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ASB10 ankyrin repeat and SOCS box containing 10 [ Homo sapiens (human) ]

Gene ID: 136371, updated on 2-Nov-2024

Summary

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Official Symbol
ASB10provided by HGNC
Official Full Name
ankyrin repeat and SOCS box containing 10provided by HGNC
Primary source
HGNC:HGNC:17185
See related
Ensembl:ENSG00000146926 MIM:615054; AllianceGenome:HGNC:17185
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
GLC1F
Summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]
Expression
Biased expression in heart (RPKM 1.4), prostate (RPKM 0.5) and 1 other tissue See more
Orthologs
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Genomic context

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See ASB10 in Genome Data Viewer
Location:
7q36.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151175698..151187792, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152348791..152360884, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150872785..150884879, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150786615-150787125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150787126-150787635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150787761-150788266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150788267-150788772 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150800613-150801520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150805265-150805927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150828941-150829442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150829443-150829942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150833002-150833976 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:150834950-150835923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:150835924-150836896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150840191-150841150 Neighboring gene gastrulation brain homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18804 Neighboring gene Sharpr-MPRA regulatory region 15220 Neighboring gene MPRA-validated peak6845 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150893037-150893776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150895718-150896704 Neighboring gene IQ motif containing with AAA domain 1 like Neighboring gene ABCF2-H2BK1 readthrough Neighboring gene H2B.K variant histone 1

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea.
    Title: Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea.
  2. Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population
    Title: Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.
  4. These findings suggested that the genes in the GLC1F locus may be associated with the pathogenesis of normal tension glaucoma.
    Title: Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.
  5. ASB10 may play a role in ubiquitin-mediated degradation pathways in tabecular meshwork cells.
    Title: Ankyrin repeat and suppressor of cytokine signaling box containing protein-10 is associated with ubiquitin-mediated degradation pathways in trabecular meshwork cells.
  6. non-synonymous mutations in ASB10 do not cause Mendelian forms of primary open angle glaucoma
    Title: Analysis of ASB10 variants in open angle glaucoma.
  7. Variants in ASB10 are associated with open-angle glaucoma.
    Title: Variants in ASB10 are associated with open-angle glaucoma.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glaucoma 1, open angle, F
MedGen: C1863926 OMIM: 603383 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ankyrin repeat and SOCS box protein 10

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_017016.1 RefSeqGene

    Range
    5583..17135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142459.2 → NP_001135931.2  ankyrin repeat and SOCS box protein 10 isoform 1

    See identical proteins and their annotated locations for NP_001135931.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The transcript contains an in-frame start site 45 codons upstream from the currently annotated site. The annotated downstream AUG is better conserved and has a strong Kozak signal.
    Source sequence(s)
    AF417920, AK055536
    Consensus CDS
    CCDS47750.2
    UniProtKB/Swiss-Prot
    A0AVH0, Q6ZUL6, Q8WXI3
    Related
    ENSP00000391137.2, ENST00000420175.3
    Conserved Domains (4) summary
    cd00204
    Location:148 → 256
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:148 → 178
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:117 → 168
    Ank_4; Ankyrin repeats (many copies)
    cl02533
    Location:421 → 439
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...

  2. NM_001142460.1 → NP_001135932.2  ankyrin repeat and SOCS box protein 10 isoform 2

    See identical proteins and their annotated locations for NP_001135932.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. The transcript contains an in-frame start site 45 codons upstream from the currently annotated site. The annotated downstream AUG is better conserved and has a strong Kozak signal.
    Source sequence(s)
    AF417920, AK055536
    Consensus CDS
    CCDS47749.2
    UniProtKB/TrEMBL
    A0A090N8I2
    Related
    ENSP00000275838.1, ENST00000275838.5
    Conserved Domains (5) summary
    cd00204
    Location:148 → 256
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:152 → 245
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:117 → 168
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:148 → 178
    ANK; ANK repeat [structural motif]
    cl02533
    Location:383 → 401
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...

  3. NM_080871.4 → NP_543147.2  ankyrin repeat and SOCS box protein 10 isoform 3

    See identical proteins and their annotated locations for NP_543147.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF417920, AK055536, AK125565, DA898875
    Consensus CDS
    CCDS5921.2
    UniProtKB/Swiss-Prot
    Q8WXI3
    Related
    ENSP00000367098.3, ENST00000377867.7
    Conserved Domains (5) summary
    cd00204
    Location:133 → 241
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:137 → 230
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:102 → 153
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:133 → 163
    ANK; ANK repeat [structural motif]
    cl02533
    Location:406 → 424
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    151175698..151187792 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    152348791..152360884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WXI3.2 GenPept UniProtKB/Swiss-Prot:Q8WXI3

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