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ASB1 ankyrin repeat and SOCS box containing 1 [ Homo sapiens (human) ]

Gene ID: 51665, updated on 23-Nov-2021

Summary

Official Symbol
ASB1provided by HGNC
Official Full Name
ankyrin repeat and SOCS box containing 1provided by HGNC
Primary source
HGNC:HGNC:16011
See related
Ensembl:ENSG00000065802 MIM:605758
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
ASB-1
Summary
The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
Expression
Ubiquitous expression in brain (RPKM 9.2), heart (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

See ASB1 in Genome Data Viewer
Location:
2q37.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (238426927..238452250)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239335568..239360891)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr2.7265 Neighboring gene CRISPRi-validated cis-regulatory element chr2.7266 Neighboring gene uncharacterized LOC107986003 Neighboring gene zinc finger protein 256 pseudogene Neighboring gene long intergenic non-protein coding RNA 1107 Neighboring gene uncharacterized LOC112268434

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1146, MGC11165

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in male genitalia development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cytokine production NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ankyrin repeat and SOCS box protein 1

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.

mRNA and Protein(s)

  1. NM_001040445.3NP_001035535.1  ankyrin repeat and SOCS box protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001035535.1

    Status: REVIEWED

    Source sequence(s)
    AC016999, BC014528
    Consensus CDS
    CCDS33416.1
    UniProtKB/Swiss-Prot
    Q9Y576
    Related
    ENSP00000264607.4, ENST00000264607.9
    Conserved Domains (5) summary
    PHA02875
    Location:80266
    PHA02875; ankyrin repeat protein; Provisional
    cd03720
    Location:294335
    SOCS_ASB1; SOCS (suppressors of cytokine signaling) box of ASB1-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. The general function of the SOCS box is the recruitment of the ubiquitin-transferase system. The ...
    sd00045
    Location:79108
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:82173
    Ank_2; Ankyrin repeats (3 copies)
    cl39094
    Location:22108
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001330196.2NP_001317125.1  ankyrin repeat and SOCS box protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC016999
    Consensus CDS
    CCDS82582.1
    UniProtKB/TrEMBL
    B9A047
    Related
    ENSP00000387025.1, ENST00000409297.1
    Conserved Domains (3) summary
    cd00204
    Location:39165
    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 ...
    cd03720
    Location:193234
    SOCS_ASB1; SOCS (suppressors of cytokine signaling) box of ASB1-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. The general function of the SOCS box is the recruitment of the ubiquitin-transferase system. The ...
    sd00045
    Location:3871
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    238426927..238452250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016114.3: Suppressed sequence

    Description
    NM_016114.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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