SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPSB1provided by HGNC
Official Full Name: splA/ryanodine receptor domain and SOCS box containing 1provided by HGNC
Primary source: HGNC:HGNC:30628
See related: Ensembl:ENSG00000171621 MIM:611657; AllianceGenome:HGNC:30628
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: SSB1; SSB-1
Summary: Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in endometrium (RPKM 16.9), gall bladder (RPKM 15.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (9292894..9369532)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (8827769..8904391)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (9352953..9429591)

Chromosome 1 - NC_000001.11 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

Expression

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See details

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

What's a GeneRIF?

SUMOylation stabilizes hSSB1 and enhances the recruitment of NBS1 to DNA damage sites.
Title: SUMOylation stabilizes hSSB1 and enhances the recruitment of NBS1 to DNA damage sites.
Cullin-5 Adaptor SPSB1 Controls NF-kappaB Activation Downstream of Multiple Signaling Pathways.
Title: Cullin-5 Adaptor SPSB1 Controls NF-κB Activation Downstream of Multiple Signaling Pathways.
Our results indicate that the paralogs Spsb1 and Spsb4, but not Spsb2 and Spsb3, can interact with and facilitate RevErbalpha ubiquitination and degradation and regulate circadian clock periodicity.
Title: The E3 Ligases Spsb1 and Spsb4 Regulate RevErbα Degradation and Circadian Period.
SPSB1 plays a key role in ovarian cancer cell survival and proliferation. The data also reveal a novel mechanism of regulating p21 stability by SPSB1.
Title: SPSB1 enhances ovarian cancer cell survival by destabilizing p21.
EGF signaling upregulates an E3 ubiquitin (Ub) ligase adaptor, SPRY domain-containing SOCS box protein 1 (SPSB1), which recruits Elongin B/C-Cullin complexes to conjugate lysine 29-linked poly Ubiquitin chains onto hnRNP A1.
Title: SPSB1-mediated HnRNP A1 ubiquitylation regulates alternative splicing and cell migration in EGF signaling.
SPSB1 negatively regulates the TGF-beta signaling pathway through its interaction with both endogenous and overexpressed TbetaRII (and not TbetaRI) via its Spry domain.
Title: SPSB1, a Novel Negative Regulator of the Transforming Growth Factor-β Signaling Pathway Targeting the Type II Receptor.
Findings define a novel pathway that contributes to breast cancer recurrence and provide evidence implicating SPSB proteins in cancer.
Title: SPSB1 promotes breast cancer recurrence by potentiating c-MET signaling.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
SSB1/2 is part of an ssDNA-binding heterotrimeric complex, SOSS which is involved in the maintenance of genome stability.
Title: SOSS complexes participate in the maintenance of genomic stability.

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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

EBI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3275 (e-PCR)
- UniSTS:9086

D1S1465 (e-PCR)
- UniSTS:149661

D1S503 (e-PCR), detects polymorphism
- UniSTS:35757

SHGC-74186 (e-PCR)
- UniSTS:22191

D1S503 (e-PCR), detects polymorphism
- UniSTS:16314

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of SCF ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	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: SPRY domain-containing SOCS box protein 1

Names: SPRY domain-containing SOCS box protein SSB-1; novel SPRY domain containing protein

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_025106.4 → NP_079382.2 SPRY domain-containing SOCS box protein 1

See identical proteins and their annotated locations for NP_079382.2

Status: VALIDATED

Source sequence(s)

AL008734, AL358252, BC015711, DB242202

Consensus CDS

CCDS102.1

UniProtKB/Swiss-Prot

A2A275, Q59FA1, Q5TIH9, Q96BD6, Q9BRY9, Q9H6C5

Related

ENSP00000330221.6, ENST00000328089.11

Conserved Domains (2) summary

cd03744
Location:232 → 273

SOCS_SSB1; SOCS (suppressors of cytokine signaling) box of SSB1 (SPRY domain-containing SOCS box proteins)-like proteins. SSB proteins contain a central SPRY domain and a C-terminal SOCS. SSB1 has been shown to bind to MET, the receptor protein-tyrosine kinase for ...

cd12906
Location:54 → 227

SPRY_SOCS1-2-4; SPRY domain in the suppressor of cytokine signaling 1, 2, 4 families (SOCS1, SOCS2, SOCS4)