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ASB6 ankyrin repeat and SOCS box containing 6 [ Homo sapiens (human) ]

Gene ID: 140459, updated on 10-Dec-2024

Summary

Official Symbol
ASB6provided by HGNC
Official Full Name
ankyrin repeat and SOCS box containing 6provided by HGNC
Primary source
HGNC:HGNC:17181
See related
Ensembl:ENSG00000148331 MIM:615051; AllianceGenome:HGNC:17181
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
Summary
The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in testis (RPKM 8.1), bone marrow (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

See ASB6 in Genome Data Viewer
Location:
9q34.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129634605..129642151, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141839213..141846767, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132396884..132404430, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132346053-132346610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132349961-132350644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132362549-132363048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132366575-132367074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132369161-132369798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132373341-132373842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132373843-132374342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132382842-132383492 Neighboring gene chromosome 9 open reading frame 50 Neighboring gene N-terminal Xaa-Pro-Lys N-methyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132388415-132388953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132393630-132394420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132402376-132402933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132402934-132403490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132409664-132410412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132431437-132431938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132431939-132432438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132439411-132440254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132441550-132442050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132442051-132442551 Neighboring gene paired related homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132448034-132448578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132474701-132475516 Neighboring gene PRRX2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132486991-132487490 Neighboring gene uncharacterized LOC124902284 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132489030-132489223

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

Interactions

General gene information

Clone Names

  • MGC1024, FLJ20548

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol  

General protein information

Preferred Names
ankyrin repeat and SOCS box protein 6

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_001202403.2NP_001189332.1  ankyrin repeat and SOCS box protein 6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AL590369
    Consensus CDS
    CCDS75919.1
    UniProtKB/TrEMBL
    A8K9U2, F6TX30
    Related
    ENSP00000416172.3, ENST00000450050.6
    Conserved Domains (5) summary
    PHA02884
    Location:7130
    PHA02884; ankyrin repeat protein; Provisional
    cd00204
    Location:71171
    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 ...
    cd03725
    Location:341384
    SOCS_ASB6; SOCS (suppressors of cytokine signaling) box of ASB6-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ASB6 interacts with the adaptor protein APS and recruits elongin B/C to the insulin receptor ...
    sd00045
    Location:7299
    ANK; ANK repeat [structural motif]
    cl26073
    Location:88256
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_017873.4NP_060343.1  ankyrin repeat and SOCS box protein 6 isoform 1

    See identical proteins and their annotated locations for NP_060343.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL590369
    Consensus CDS
    CCDS6924.1
    UniProtKB/Swiss-Prot
    Q5SZB7, Q9BV15, Q9NWX5
    UniProtKB/TrEMBL
    A8K9U2
    Related
    ENSP00000277458.4, ENST00000277458.5
    Conserved Domains (5) summary
    PHA02884
    Location:7130
    PHA02884; ankyrin repeat protein; Provisional
    cd00204
    Location:71197
    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 ...
    cd03725
    Location:370413
    SOCS_ASB6; SOCS (suppressors of cytokine signaling) box of ASB6-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ASB6 interacts with the adaptor protein APS and recruits elongin B/C to the insulin receptor ...
    sd00045
    Location:105133
    ANK; ANK repeat [structural motif]
    cl26073
    Location:133285
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_177999.3NP_821066.1  ankyrin repeat and SOCS box protein 6 isoform 2

    See identical proteins and their annotated locations for NP_821066.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a unique C-terminus compared to isoform 1.
    Source sequence(s)
    AL590369
    Consensus CDS
    CCDS6925.1
    UniProtKB/Swiss-Prot
    Q9NWX5
    Related
    ENSP00000277459.4, ENST00000277459.8
    Conserved Domains (3) summary
    PHA02884
    Location:7130
    PHA02884; ankyrin repeat protein; Provisional
    cd00204
    Location:71160
    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:6799
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    129634605..129642151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    141839213..141846767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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