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ASB8 ankyrin repeat and SOCS box containing 8 [ Homo sapiens (human) ]

Gene ID: 140461, updated on 5-Mar-2024

Summary

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Official Symbol
ASB8provided by HGNC
Official Full Name
ankyrin repeat and SOCS box containing 8provided by HGNC
Primary source
HGNC:HGNC:17183
See related
Ensembl:ENSG00000177981 MIM:615053; AllianceGenome:HGNC:17183
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP14212
Summary
Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 11.8), kidney (RPKM 11.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48147789..48157515, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48109134..48118862, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48541572..48551298, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SUMO specific peptidase 1 Neighboring gene V-type proton ATPase subunit F-like Neighboring gene ReSE screen-validated silencer GRCh37_chr12:48484832-48485048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:48498859-48499734 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:48499735-48500608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6279 Neighboring gene phosphofructokinase, muscle Neighboring gene microRNA 6505 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48536214-48537195 Neighboring gene NANOG hESC enhancer GRCh37_chr12:48551082-48551604 Neighboring gene SCO1 cytochrome c oxidase assembly protein pseudogene Neighboring gene Sharpr-MPRA regulatory regions 9525 and 5417 Neighboring gene PHB1 pseudogene 18

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. Molecular cloning and characterization of the human ASB-8 gene encoding a novel member of ankyrin repeat and SOCS box containing protein family. Liu Y, et al. Biochem Biophys Res Commun, 2003 Jan 24. PMID 12559969
  2. E3 ubiquitin ligase ASB8 negatively regulates interferon via regulating TBK1/IKKi homeostasis. Guo Y, et al. Mol Immunol, 2020 May. PMID 32298923
  3. Array MAPPIT: high-throughput interactome analysis in mammalian cells. Lievens S, et al. J Proteome Res, 2009 Feb. PMID 19159283
  4. The SOCS box: a tale of destruction and degradation. Kile BT, et al. Trends Biochem Sci, 2002 May. PMID 12076535
  5. Protein interaction screening for the ankyrin repeats and suppressor of cytokine signaling (SOCS) box (ASB) family identify Asb11 as a novel endoplasmic reticulum resident ubiquitin ligase. Andresen CA, et al. J Biol Chem, 2014 Jan 24. PMID 24337577, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC5540, FLJ21255

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 cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ankyrin repeat and SOCS box protein 8

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_001319296.2 → NP_001306225.1  ankyrin repeat and SOCS box protein 8 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AF464877, BC001321, DA071750
    Consensus CDS
    CCDS8761.1
    UniProtKB/Swiss-Prot
    A8K1P2, Q547Q2, Q9H765
    UniProtKB/TrEMBL
    Q6IA19
    Conserved Domains (3) summary
    PHA02876
    Location:26 → 215
    PHA02876; ankyrin repeat protein; Provisional
    cd03727
    Location:245 → 287
    SOCS_ASB8; SOCS (suppressors of cytokine signaling) box of ASB8-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Human ASB8 is highly transcribed in skeletal muscle and in lung carcinoma cell lines. The ...
    sd00045
    Location:56 → 83
    ANK; ANK repeat [structural motif]

  2. NM_001319297.2 → NP_001306226.1  ankyrin repeat and SOCS box protein 8 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AF464877, AK289957, BC001321
    Consensus CDS
    CCDS8761.1
    UniProtKB/Swiss-Prot
    A8K1P2, Q547Q2, Q9H765
    UniProtKB/TrEMBL
    Q6IA19
    Related
    ENSP00000445622.1, ENST00000536549.5
    Conserved Domains (3) summary
    PHA02876
    Location:26 → 215
    PHA02876; ankyrin repeat protein; Provisional
    cd03727
    Location:245 → 287
    SOCS_ASB8; SOCS (suppressors of cytokine signaling) box of ASB8-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Human ASB8 is highly transcribed in skeletal muscle and in lung carcinoma cell lines. The ...
    sd00045
    Location:56 → 83
    ANK; ANK repeat [structural motif]

  3. NM_001319298.2 → NP_001306227.1  ankyrin repeat and SOCS box protein 8 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' UTR, contains an alternate exon in the 5' region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 4 and 5 encode the same isoform (b).
    Source sequence(s)
    AF464877, BC001321, BP372866
    UniProtKB/Swiss-Prot
    Q9H765
    Conserved Domains (3) summary
    cd03727
    Location:184 → 226
    SOCS_ASB8; SOCS (suppressors of cytokine signaling) box of ASB8-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Human ASB8 is highly transcribed in skeletal muscle and in lung carcinoma cell lines. The ...
    sd00045
    Location:24 → 54
    ANK; ANK repeat [structural motif]
    cl39094
    Location:8 → 120
    Ank_2; Ankyrin repeats (3 copies)

  4. NM_001319299.2 → NP_001306228.1  ankyrin repeat and SOCS box protein 8 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice site in the 5' UTR, contains an alternate exon in the 5' region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 4 and 5 encode the same isoform (b).
    Source sequence(s)
    AF464877, BC001321, DA979010
    UniProtKB/Swiss-Prot
    Q9H765
    Conserved Domains (3) summary
    cd03727
    Location:184 → 226
    SOCS_ASB8; SOCS (suppressors of cytokine signaling) box of ASB8-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Human ASB8 is highly transcribed in skeletal muscle and in lung carcinoma cell lines. The ...
    sd00045
    Location:24 → 54
    ANK; ANK repeat [structural motif]
    cl39094
    Location:8 → 120
    Ank_2; Ankyrin repeats (3 copies)

  5. NM_001319300.2 → NP_001306229.1  ankyrin repeat and SOCS box protein 8 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon in the 5' UTR and contains an alternate exon in the 3' region, which results in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter, distinct C-terminus compared to isoform a. Variants 6 and 7 encode the same isoform (c).
    Source sequence(s)
    AF464877, BC001321, BP195070
    Consensus CDS
    CCDS81686.1
    UniProtKB/TrEMBL
    F5GYF0, F5H772
    Related
    ENSP00000438498.1, ENST00000536953.5
    Conserved Domains (2) summary
    cd00204
    Location:34 → 77
    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:51 → 77
    ANK; ANK repeat [structural motif]

  6. NM_001319301.2 → NP_001306230.1  ankyrin repeat and SOCS box protein 8 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon and uses an alternate splice site in the 5' UTR and contains an alternate exon in the 3' region, which results in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter, distinct C-terminus compared to isoform a. Variants 6 and 7 encode the same isoform (c).
    Source sequence(s)
    AF464877, BC001321, BP210910
    Consensus CDS
    CCDS81686.1
    UniProtKB/TrEMBL
    F5GYF0, F5H772
    Related
    ENSP00000440773.1, ENST00000535055.5
    Conserved Domains (2) summary
    cd00204
    Location:34 → 77
    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:51 → 77
    ANK; ANK repeat [structural motif]

  7. NM_024095.5 → NP_077000.1  ankyrin repeat and SOCS box protein 8 isoform a

    See identical proteins and their annotated locations for NP_077000.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AF464877, BC001321, BM837218
    Consensus CDS
    CCDS8761.1
    UniProtKB/Swiss-Prot
    A8K1P2, Q547Q2, Q9H765
    UniProtKB/TrEMBL
    Q6IA19
    Related
    ENSP00000320893.3, ENST00000317697.8
    Conserved Domains (3) summary
    PHA02876
    Location:26 → 215
    PHA02876; ankyrin repeat protein; Provisional
    cd03727
    Location:245 → 287
    SOCS_ASB8; SOCS (suppressors of cytokine signaling) box of ASB8-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Human ASB8 is highly transcribed in skeletal muscle and in lung carcinoma cell lines. The ...
    sd00045
    Location:56 → 83
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    48147789..48157515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    48109134..48118862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H765.1 GenPept UniProtKB/Swiss-Prot:Q9H765

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