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

    Gene ID: 140461, updated on 2-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 11.8), kidney (RPKM 11.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASB8 in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48147789..48157515, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48109134..48118862, complement)
    RS_2024_09 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 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

    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)

    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_2024_08

    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

    Gene LinkOut

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