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ASCC1 activating signal cointegrator 1 complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 51008, updated on 2-Nov-2024

Summary

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Official Symbol
ASCC1provided by HGNC
Official Full Name
activating signal cointegrator 1 complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:24268
See related
Ensembl:ENSG00000138303 MIM:614215; AllianceGenome:HGNC:24268
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p50; CGI-18; SMABF2; ASC1p50
Summary
This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ASCC1 in Genome Data Viewer
Location:
10q22.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (72096032..72217134, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72966865..73088203, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73855790..73976892, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73828839-73829346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73829527-73830028 Neighboring gene SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73840535-73841319 Neighboring gene small nucleolar RNA SNORA36 family Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73950125-73950295 Neighboring gene ribosomal protein L15 pseudogene 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73973271-73973772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73973773-73974272 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73975455-73976450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73977030-73977571 Neighboring gene anaphase promoting complex subunit 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74007658-74008225 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74008226-74008794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74008795-74009361 Neighboring gene Sharpr-MPRA regulatory region 8691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3533 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74020023-74020666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74030210-74030710 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74030711-74031211 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032179-74032702 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032703-74033226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74035325-74035848 Neighboring gene DDIT4 antisense RNA 1 Neighboring gene DNA damage inducible transcript 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase. Chinnam NB, et al. J Biol Chem, 2024 Jun. PMID 38750793, Free PMC Article
  2. A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis. Torices S, et al. J Immunol, 2015 Dec 1. PMID 26503956
  3. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Oliveira J, et al. Clin Genet, 2017 Oct. PMID 28218388
  4. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. Böhm J, et al. J Med Genet, 2019 Sep. PMID 30327447
  5. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. Sharova M, et al. Am J Med Genet A, 2022 Oct. PMID 35838082

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.
    Title: ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.
  2. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
    Title: Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
  3. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
    Title: Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
  4. Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
    Title: Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
  5. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
    Title: A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
  6. Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
    Title: Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
  7. this work expands the ASCC1 mutation spectrum, sheds light on the muscle histology of the disorder and emphasises the physiological importance of the ASC-1 complex in fetal muscle and bone development.
    Title: Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
  8. ASCC1 knockout through a CRISPR/Cas9 approach results in alkylation damage sensitivity in a manner epistatic with ASCC3.
    Title: RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage.
  9. Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra
    Title: The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
  10. ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis.
    Title: A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Barrett esophagus
MedGen: C0004763 OMIM: 614266 GeneReviews: Not available
not available
Spinal muscular atrophy with congenital bone fractures 2
MedGen: C4225176 OMIM: 616867 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA alkylation repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in DNA duplex unwinding NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of DNA repair complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription regulator complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
activating signal cointegrator 1 complex subunit 1
Names
ASC-1 complex subunit P50
trip4 complex subunit p50

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031890.1 RefSeqGene

    Range
    5859..126103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198798.2 → NP_001185727.1  activating signal cointegrator 1 complex subunit 1 isoform b

    See identical proteins and their annotated locations for NP_001185727.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC022392, BC012291, DA951859
    Consensus CDS
    CCDS31219.1
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  2. NM_001198799.3 → NP_001185728.1  activating signal cointegrator 1 complex subunit 1 isoform a

    See identical proteins and their annotated locations for NP_001185728.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC022392, AK094170, DA942671
    Consensus CDS
    CCDS55713.1
    UniProtKB/Swiss-Prot
    Q5SW06, Q5SW07, Q8N9N2, Q96EI8, Q9Y307
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Related
    ENSP00000339404.4, ENST00000342444.8
    Conserved Domains (3) summary
    PLN00108
    Location:157 → 370
    PLN00108; unknown protein; Provisional
    cd02394
    Location:99 → 148
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:161 → 349
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  3. NM_001198800.3 → NP_001185729.1  activating signal cointegrator 1 complex subunit 1 isoform b

    See identical proteins and their annotated locations for NP_001185729.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC022392, AK023436
    Consensus CDS
    CCDS31219.1
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Related
    ENSP00000500935.1, ENST00000672957.1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  4. NM_001369085.1 → NP_001356014.1  activating signal cointegrator 1 complex subunit 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    B7Z518
    Conserved Domains (2) summary
    cd02394
    Location:84 → 142
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:155 → 354
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  5. NM_001369086.1 → NP_001356015.1  activating signal cointegrator 1 complex subunit 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    B7Z518
    Conserved Domains (2) summary
    cd02394
    Location:84 → 142
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:155 → 354
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  6. NM_001369087.1 → NP_001356016.1  activating signal cointegrator 1 complex subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 332
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  7. NM_001369088.1 → NP_001356017.1  activating signal cointegrator 1 complex subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 332
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  8. NM_001369089.1 → NP_001356018.1  activating signal cointegrator 1 complex subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 332
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  9. NM_001369090.1 → NP_001356019.1  activating signal cointegrator 1 complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    H0YCB3
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 332
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  10. NM_001369091.1 → NP_001356020.1  activating signal cointegrator 1 complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    H0YCB3
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 332
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  11. NM_001369092.1 → NP_001356021.1  activating signal cointegrator 1 complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    H0YCB3
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 332
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  12. NM_001369093.1 → NP_001356022.1  activating signal cointegrator 1 complex subunit 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Consensus CDS
    CCDS31219.1
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Related
    ENSP00000500488.1, ENST00000672774.1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  13. NM_001369094.1 → NP_001356023.1  activating signal cointegrator 1 complex subunit 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Consensus CDS
    CCDS31219.1
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  14. NM_001369095.1 → NP_001356024.1  activating signal cointegrator 1 complex subunit 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Consensus CDS
    CCDS31219.1
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  15. NM_001369096.1 → NP_001356025.1  activating signal cointegrator 1 complex subunit 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 313
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  16. NM_001369097.1 → NP_001356026.1  activating signal cointegrator 1 complex subunit 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 313
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  17. NM_001369098.1 → NP_001356027.1  activating signal cointegrator 1 complex subunit 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 313
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  18. NM_001369099.1 → NP_001356028.1  activating signal cointegrator 1 complex subunit 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    B7Z518
    Conserved Domains (2) summary
    cd02394
    Location:84 → 142
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:155 → 338
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  19. NM_001369100.1 → NP_001356029.1  activating signal cointegrator 1 complex subunit 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 292
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  20. NM_001369101.1 → NP_001356030.1  activating signal cointegrator 1 complex subunit 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    H0YCB3
    Conserved Domains (2) summary
    cd02394
    Location:23 → 81
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:94 → 293
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  21. NM_001369102.1 → NP_001356031.1  activating signal cointegrator 1 complex subunit 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    H0YCB3
    Related
    ENSP00000431299.1, ENST00000486689.6
    Conserved Domains (2) summary
    cd02394
    Location:23 → 81
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:94 → 293
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  22. NM_001369103.1 → NP_001356032.1  activating signal cointegrator 1 complex subunit 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 292
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  23. NM_001369104.1 → NP_001356033.1  activating signal cointegrator 1 complex subunit 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 292
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  24. NM_001369105.1 → NP_001356034.1  activating signal cointegrator 1 complex subunit 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:23 → 81
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:94 → 317
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  25. NM_001369106.1 → NP_001356035.1  activating signal cointegrator 1 complex subunit 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:23 → 81
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:94 → 317
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  26. NM_001369107.1 → NP_001356036.1  activating signal cointegrator 1 complex subunit 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:23 → 81
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:94 → 317
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  27. NM_001369108.1 → NP_001356037.1  activating signal cointegrator 1 complex subunit 1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Consensus CDS
    CCDS91260.1
    UniProtKB/TrEMBL
    A0A5F9ZH79, A0A5F9ZHP1
    Related
    ENSP00000500074.1, ENST00000672940.1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 316
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  28. NM_001369109.1 → NP_001356038.1  activating signal cointegrator 1 complex subunit 1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Consensus CDS
    CCDS91260.1
    UniProtKB/TrEMBL
    A0A5F9ZH79, A0A5F9ZHP1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 316
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  29. NM_001369110.1 → NP_001356039.1  activating signal cointegrator 1 complex subunit 1 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZI37
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 287
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  30. NM_001369111.1 → NP_001356040.1  activating signal cointegrator 1 complex subunit 1 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    UniProtKB/TrEMBL
    A0A5F9ZI37
    Related
    ENSP00000500906.1, ENST00000671788.1
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:133 → 287
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  31. NM_001369112.1 → NP_001356041.1  activating signal cointegrator 1 complex subunit 1 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC022392, AL607035
    Consensus CDS
    CCDS91259.1
    UniProtKB/TrEMBL
    A0A5K1VW55
    Related
    ENSP00000320810.7, ENST00000317168.11
    Conserved Domains (2) summary
    cd02394
    Location:62 → 120
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    cl26521
    Location:133 → 247
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

RNA

  1. NR_045564.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks three internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC022392, AK298302, CD706699, DC361917

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    72096032..72217134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425261.1 → XP_047281217.1  activating signal cointegrator 1 complex subunit 1 isoform X6

  2. XM_047425258.1 → XP_047281214.1  activating signal cointegrator 1 complex subunit 1 isoform X4

  3. XM_047425257.1 → XP_047281213.1  activating signal cointegrator 1 complex subunit 1 isoform X3

  4. XM_047425259.1 → XP_047281215.1  activating signal cointegrator 1 complex subunit 1 isoform X5

  5. XM_024448032.2 → XP_024303800.1  activating signal cointegrator 1 complex subunit 1 isoform X1

    UniProtKB/TrEMBL
    B7Z518
    Conserved Domains (2) summary
    cd02394
    Location:84 → 142
    vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    pfam10469
    Location:155 → 335
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

  6. XM_047425256.1 → XP_047281212.1  activating signal cointegrator 1 complex subunit 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    72966865..73088203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365974.1 → XP_054221949.1  activating signal cointegrator 1 complex subunit 1 isoform X6

  2. XM_054365972.1 → XP_054221947.1  activating signal cointegrator 1 complex subunit 1 isoform X4

  3. XM_054365971.1 → XP_054221946.1  activating signal cointegrator 1 complex subunit 1 isoform X3

  4. XM_054365973.1 → XP_054221948.1  activating signal cointegrator 1 complex subunit 1 isoform X5

  5. XM_054365969.1 → XP_054221944.1  activating signal cointegrator 1 complex subunit 1 isoform X1

  6. XM_054365970.1 → XP_054221945.1  activating signal cointegrator 1 complex subunit 1 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015947.3: Suppressed sequence

    Description
    NM_015947.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N9N2.1 GenPept UniProtKB/Swiss-Prot:Q8N9N2

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