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ACIN1 apoptotic chromatin condensation inducer 1 [ Homo sapiens (human) ]

Gene ID: 22985, updated on 3-Nov-2024

Summary

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Official Symbol
ACIN1provided by HGNC
Official Full Name
apoptotic chromatin condensation inducer 1provided by HGNC
Primary source
HGNC:HGNC:17066
See related
Ensembl:ENSG00000100813 MIM:604562; AllianceGenome:HGNC:17066
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
ACN; ACINUS; fSAP152
Summary
Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Expression
Ubiquitous expression in bone marrow (RPKM 24.7), spleen (RPKM 23.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ACIN1 in Genome Data Viewer
Location:
14q11.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23058564..23095614, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17259183..17296258, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23527773..23564680, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene proteasome subunit beta 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23521379-23521879 Neighboring gene cadherin 24 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5601 Neighboring gene collagen alpha-2(I) chain-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:23530845-23532044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23537671-23538195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8161 Neighboring gene uncharacterized LOC124903288 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23547601-23548800 Neighboring gene hESC enhancers GRCh37_chr14:23564101-23564624 and GRCh37_chr14:23564625-23565148 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene Sharpr-MPRA regulatory region 2207 Neighboring gene ciliated left-right organizer metallopeptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23583091-23583809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 Neighboring gene CCAAT enhancer binding protein epsilon

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. The ACIN1 gene is hypermethylated in early stage lung adenocarcinoma. Shu Y, et al. J Thorac Oncol, 2006 Feb. PMID 17409846
  2. Splicing activator RNPS1 suppresses errors in pre-mRNA splicing: A key factor for mRNA quality control. Fukumura K, et al. Biochem Biophys Res Commun, 2018 Feb 12. PMID 29366779
  3. The RNA-binding profile of Acinus, a peripheral component of the exon junction complex, reveals its role in splicing regulation. Rodor J, et al. RNA, 2016 Sep. PMID 27365209, Free PMC Article
  4. The SAP motif and C-terminal RS- and RD/E-rich region influences the sub-nuclear localization of Acinus isoforms. Wang F, et al. J Cell Biochem, 2014 Dec. PMID 25079509, Free PMC Article
  5. Functional Proteomics Identifies Acinus L as a Direct Insulin- and Amino Acid-Dependent Mammalian Target of Rapamycin Complex 1 (mTORC1) Substrate. Schwarz JJ, et al. Mol Cell Proteomics, 2015 Aug. PMID 25907765, Free PMC Article

See all (184) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The SRSF3-MBNL1-Acin1 circuit constitutes an emerging axis to lessen DNA fragmentation in colorectal cancer via an alternative splicing mechanism.
    Title: The SRSF3-MBNL1-Acin1 circuit constitutes an emerging axis to lessen DNA fragmentation in colorectal cancer via an alternative splicing mechanism.
  2. ACIN1 mRNA was highly expressed in platelets of lung cancer patients
    Title: [Expression and Significance of ACIN1 mRNA in Platelets of Lung Cancer].
  3. We conclude that RNPS1 is a key factor for the quality control of mRNAs that is essential for the phenotypes including cell division.
    Title: Splicing activator RNPS1 suppresses errors in pre-mRNA splicing: A key factor for mRNA quality control.
  4. Genome-wide identification of RNA targets of Acinus revealed its role in splicing regulation as well as its involvement in other cellular pathways, including cell cycle progression.
    Title: The RNA-binding profile of Acinus, a peripheral component of the exon junction complex, reveals its role in splicing regulation.
  5. acinus L was identified as a potential novel mTORC1 target.
    Title: Functional Proteomics Identifies Acinus L as a Direct Insulin- and Amino Acid-Dependent Mammalian Target of Rapamycin Complex 1 (mTORC1) Substrate.
  6. Differences in the nuclear localization of Acinus-S' and Acinus-L may suggest that these two isoforms have different functional roles.
    Title: The SAP motif and C-terminal RS- and RD/E-rich region influences the sub-nuclear localization of Acinus isoforms.
  7. the ligand-dependent splicing activity of Acinus is related to the retinoic acid-activated retinoic acid receptor
    Title: Role of Acinus in regulating retinoic acid-responsive gene pre-mRNA splicing.
  8. An electronegative region on acinusS restricts SRPK2 phosphorylation to a single specific site.
    Title: Primary structural features of SR-like protein acinusS govern the phosphorylation mechanism by SRPK2.
  9. Chronic low-dose radiation increases the levels of AKT and acinus proteins via NF-kappaB activation
    Title: Chronic low-dose radiation inhibits the cells death by cytotoxic high-dose radiation increasing the level of AKT and acinus proteins via NF-κB activation.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, apoptotic chromatin condensation inducer 1 (ACIN1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with ACIN1 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • KIAA0670, DKFZp667N107

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP hydrolysis activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables RNA binding HDA PubMed 
enables enzyme binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables nucleic acid binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apoptotic chromosome condensation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in erythrocyte differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of monocyte differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
part_of ASAP complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ASAP complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of exon-exon junction complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
apoptotic chromatin condensation inducer in the nucleus
Names
functional spliceosome-associated protein 152

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_030461.2 RefSeqGene

    Range
    5478..42050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164814.2 → NP_001158286.2  apoptotic chromatin condensation inducer in the nucleus isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL117258, AL132780
    Consensus CDS
    CCDS55905.1
    Related
    ENSP00000451328.1, ENST00000555053.5

  2. NM_001164815.2 → NP_001158287.2  apoptotic chromatin condensation inducer in the nucleus isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AL117258, AL132780
    Consensus CDS
    CCDS53889.1
    UniProtKB/TrEMBL
    E7EQT4
    Related
    ENSP00000405677.1, ENST00000457657.5

  3. NM_001164816.2 → NP_001158288.1  apoptotic chromatin condensation inducer in the nucleus isoform 4

    See identical proteins and their annotated locations for NP_001158288.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4), also known as ACINUS-S', has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF124728, AL132780
    Consensus CDS
    CCDS53888.1
    UniProtKB/Swiss-Prot
    Q9UKV3
    Related
    ENSP00000345541.6, ENST00000338631.10
    Conserved Domains (2) summary
    pfam16294
    Location:479 → 509
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
    cd12432
    Location:284 → 370
    RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins

  4. NM_001164817.2 → NP_001158289.1  apoptotic chromatin condensation inducer in the nucleus isoform 5

    See identical proteins and their annotated locations for NP_001158289.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5), also known as ACINUS-S, has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF124728, AL132780, CX786860
    Consensus CDS
    CCDS53887.1
    UniProtKB/TrEMBL
    G3V3B0
    Related
    ENSP00000350073.2, ENST00000357481.6
    Conserved Domains (2) summary
    pfam16294
    Location:448 → 478
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
    cd12432
    Location:253 → 339
    RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins

  5. NM_001386863.1 → NP_001373792.1  apoptotic chromatin condensation inducer in the nucleus isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses a downstream transcription start site and a downstream in-frame translation start site, compared to variant 1. The encoded isoform (6) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL117258, AL132780
    Consensus CDS
    CCDS91850.1
    UniProtKB/TrEMBL
    S4R3H4
    Related
    ENSP00000474349.1, ENST00000605057.6
    Conserved Domains (4) summary
    smart00513
    Location:14 → 48
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    PTZ00121
    Location:152 → 355
    PTZ00121; MAEBL; Provisional
    pfam16294
    Location:1148 → 1178
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
    cd12432
    Location:953 → 1039
    RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins

  6. NM_014977.4 → NP_055792.2  apoptotic chromatin condensation inducer in the nucleus isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as ACINUS-L.
    Source sequence(s)
    AL117258, AL132780
    Consensus CDS
    CCDS9587.1
    UniProtKB/Swiss-Prot
    B2RTT4, D3DS45, O75158, Q9UG91, Q9UKV1, Q9UKV2, Q9UKV3
    Related
    ENSP00000262710.1, ENST00000262710.5

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23058564..23095614 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431115.1 → XP_047287071.1  apoptotic chromatin condensation inducer in the nucleus isoform X5

  2. XM_047431113.1 → XP_047287069.1  apoptotic chromatin condensation inducer in the nucleus isoform X3

  3. XM_047431114.1 → XP_047287070.1  apoptotic chromatin condensation inducer in the nucleus isoform X4

  4. XM_005267415.5 → XP_005267472.1  apoptotic chromatin condensation inducer in the nucleus isoform X1

    Conserved Domains (3) summary
    smart00513
    Location:72 → 106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd12432
    Location:1010 → 1096
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:1164 → 1235
    RSB_motif; RNSP1-SAP18 binding (RSB) motif

  5. XM_005267416.5 → XP_005267473.1  apoptotic chromatin condensation inducer in the nucleus isoform X2

    Conserved Domains (3) summary
    smart00513
    Location:72 → 106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd12432
    Location:999 → 1085
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:1153 → 1224
    RSB_motif; RNSP1-SAP18 binding (RSB) motif

  6. XM_047431116.1 → XP_047287072.1  apoptotic chromatin condensation inducer in the nucleus isoform X6

  7. XM_005267418.2 → XP_005267475.1  apoptotic chromatin condensation inducer in the nucleus isoform X14

    See identical proteins and their annotated locations for XP_005267475.1

    UniProtKB/TrEMBL
    G3V3B0
    Related
    ENSP00000380502.3, ENST00000397341.7
    Conserved Domains (2) summary
    pfam16294
    Location:448 → 478
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
    cd12432
    Location:253 → 339
    RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins

  8. XM_047431117.1 → XP_047287073.1  apoptotic chromatin condensation inducer in the nucleus isoform X9

  9. XM_047431120.1 → XP_047287076.1  apoptotic chromatin condensation inducer in the nucleus isoform X13

  10. XM_024449512.2 → XP_024305280.1  apoptotic chromatin condensation inducer in the nucleus isoform X12

    Conserved Domains (2) summary
    smart00513
    Location:72 → 106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cl26511
    Location:141 → 373
    Neuromodulin_N; Gap junction protein N-terminal region

  11. XM_047431119.1 → XP_047287075.1  apoptotic chromatin condensation inducer in the nucleus isoform X11

  12. XM_011536570.4 → XP_011534872.1  apoptotic chromatin condensation inducer in the nucleus isoform X7

    Conserved Domains (1) summary
    smart00513
    Location:72 → 106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

  13. XM_047431118.1 → XP_047287074.1  apoptotic chromatin condensation inducer in the nucleus isoform X10

  14. XM_006720081.5 → XP_006720144.1  apoptotic chromatin condensation inducer in the nucleus isoform X8

    Conserved Domains (1) summary
    smart00513
    Location:72 → 106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17259183..17296258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375614.1 → XP_054231589.1  apoptotic chromatin condensation inducer in the nucleus isoform X5

  2. XM_054375612.1 → XP_054231587.1  apoptotic chromatin condensation inducer in the nucleus isoform X3

  3. XM_054375613.1 → XP_054231588.1  apoptotic chromatin condensation inducer in the nucleus isoform X4

  4. XM_054375610.1 → XP_054231585.1  apoptotic chromatin condensation inducer in the nucleus isoform X1

  5. XM_054375611.1 → XP_054231586.1  apoptotic chromatin condensation inducer in the nucleus isoform X2

  6. XM_054375622.1 → XP_054231597.1  apoptotic chromatin condensation inducer in the nucleus isoform X14

  7. XM_054375617.1 → XP_054231592.1  apoptotic chromatin condensation inducer in the nucleus isoform X9

  8. XM_054375621.1 → XP_054231596.1  apoptotic chromatin condensation inducer in the nucleus isoform X13

  9. XM_054375620.1 → XP_054231595.1  apoptotic chromatin condensation inducer in the nucleus isoform X12

  10. XM_054375619.1 → XP_054231594.1  apoptotic chromatin condensation inducer in the nucleus isoform X11

  11. XM_054375615.1 → XP_054231590.1  apoptotic chromatin condensation inducer in the nucleus isoform X7

  12. XM_054375618.1 → XP_054231593.1  apoptotic chromatin condensation inducer in the nucleus isoform X10

  13. XM_054375616.1 → XP_054231591.1  apoptotic chromatin condensation inducer in the nucleus isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKV3.2 GenPept UniProtKB/Swiss-Prot:Q9UKV3

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