ASB4 ankyrin repeat and SOCS box containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB4provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 4provided by HGNC
Primary source: HGNC:HGNC:16009
See related: Ensembl:ENSG00000005981 MIM:605761; AllianceGenome:HGNC:16009
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-4
Summary: The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain 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, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
Expression: Biased expression in adrenal (RPKM 15.4) and placenta (RPKM 0.7) See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (95470656..95551317)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (96722134..96790011)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (95115255..95169545)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Roles of Obesity and ASB4 in Preeclampsia Pathogenesis.
Title: The Roles of Obesity and ASB4 in Preeclampsia Pathogenesis.
This analysis identified an antigen, ASB4, which was processed and presented by a cancer stem cell (CSC) subset but not by non-CSCs. The ASB4 gene was expressed in CSCs of colorectal cancer, but not in cells that had differentiated into non-CSCs.ASB4 is a tumor-associated antigen that can elicit CTL responses specific to CSCs and can discriminate between two cellular subsets of colorectal cancer.
Title: The Antigen ASB4 on Cancer Stem Cells Serves as a Target for CTL Immunotherapy of Colorectal Cancer.
Based on its differential expression, neuroanatomical distribution and colocalisation, we hypothesise that rat Asb-4 is a gene involved in energy homeostasis.
Title: Arcuate nucleus transcriptome profiling identifies ankyrin repeat and suppressor of cytokine signalling box-containing protein 4 as a gene regulated by fasting in central nervous system feeding circuits.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2482 (e-PCR), detects polymorphism
- UniSTS:8212

NoName (e-PCR)
- UniSTS:480536

ASB4_8047 (e-PCR)
- UniSTS:467568

D7S2431 (e-PCR)
- UniSTS:65934

MARC_51748-51749:1152645132:4 (e-PCR)
- UniSTS:508092

D7S2482 (e-PCR), detects polymorphism
- UniSTS:76486

G42093 (e-PCR)
- UniSTS:93139

NoName (e-PCR)
- UniSTS:483295

D7S2431 (e-PCR)
- UniSTS:20967

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autoubiquitination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Cul5-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 4

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)

NM_016116.3 → NP_057200.1 ankyrin repeat and SOCS box protein 4 isoform a

See identical proteins and their annotated locations for NP_057200.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC002451, AC003079, AF156779, AK096449, BC113479

Consensus CDS

CCDS5641.1

UniProtKB/Swiss-Prot

A4D1H6, O14586, Q14D68, Q8TBT2, Q9Y574

Related

ENSP00000321388.5, ENST00000325885.6

Conserved Domains (3) summary

PHA03095
Location:80 → 321

PHA03095; ankyrin-like protein; Provisional

cd03723
Location:379 → 426

SOCS_ASB4_ASB18; SOCS (suppressors of cytokine signaling) box of ASB4 and ASB18 proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Asb4 was identified as imprinted gene in mice. The general function of the SOCS box is the ...

sd00045
Location:77 → 104

ANK; ANK repeat [structural motif]
NM_145872.3 → NP_665879.1 ankyrin repeat and SOCS box protein 4 isoform b

See identical proteins and their annotated locations for NP_665879.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus which lacks a SOCS box domain compared to isoform a.

Source sequence(s)

BC025024, BC113479

Consensus CDS

CCDS5642.1

UniProtKB/Swiss-Prot

Q9Y574

Related

ENSP00000397070.1, ENST00000428113.5

Conserved Domains (2) summary

cd00204
Location:77 → 191

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:77 → 104

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

95470656..95551317

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420471.1 → XP_047276427.1 ankyrin repeat and SOCS box protein 4 isoform X2
XM_017012303.2 → XP_016867792.1 ankyrin repeat and SOCS box protein 4 isoform X1