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

    Gene ID: 51665, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:16011
    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
    mouse all
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    Genomic context

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    See ASB1 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238426927..238452250)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238917065..238942362)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239335568..239360891)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 234, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239330367-239331026 Neighboring gene uncharacterized LOC124908002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239334149-239334684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17383 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:239347665-239348864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239349077-239349578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239349579-239350078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239358923-239359430 Neighboring gene uncharacterized LOC107986003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239359431-239359936 Neighboring gene zinc finger protein 256 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:239363467-239363967 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:239417633-239418320 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:239418321-239419006 Neighboring gene long intergenic non-protein coding RNA 1107 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:239426272-239427471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239431154-239432062 Neighboring gene uncharacterized LOC124906130

    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
    • 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. Anxiety Associated Increased CpG Methylation in the Promoter of Asb1: A Translational Approach Evidenced by Epidemiological and Clinical Studies and a Murine Model. Emeny RT, et al. Neuropsychopharmacology, 2018 Jan. PMID 28540928, Free PMC Article
    2. Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4. Kile BT, et al. Gene, 2000 Nov 27. PMID 11111040
    3. Functional analysis of Asb-1 using genetic modification in mice. Kile BT, et al. Mol Cell Biol, 2001 Sep. PMID 11509662, Free PMC Article
    4. Characterization of Cullin-box sequences that direct recruitment of Cul2-Rbx1 and Cul5-Rbx2 modules to Elongin BC-based ubiquitin ligases. Mahrour N, et al. J Biol Chem, 2008 Mar 21. PMID 18187417
    5. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. Kohroki J, et al. FEBS Lett, 2005 Dec 19. PMID 16325183

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic regulation of the stress-responsive Asb1 gene in anxiety-related phenotypes.
      Title: Anxiety Associated Increased CpG Methylation in the Promoter of Asb1: A Translational Approach Evidenced by Epidemiological and Clinical Studies and a Murine Model.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog

    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

    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 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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_001040445.3 → NP_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
      A6NL50, Q4ZG29, Q9ULS4, Q9Y576
      Related
      ENSP00000264607.4, ENST00000264607.9
      Conserved Domains (5) summary
      PHA02875
      Location:80 → 266
      PHA02875; ankyrin repeat protein; Provisional
      cd03720
      Location:294 → 335
      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:79 → 108
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:82 → 173
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:22 → 108
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001330196.2 → NP_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:39 → 165
      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:193 → 234
      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:38 → 71
      ANK; ANK repeat [structural motif]

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238917065..238942362
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y576.1 GenPept UniProtKB/Swiss-Prot:Q9Y576

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