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

Gene ID: 80176, updated on 6-Jan-2019

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
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
Expression
Ubiquitous expression in endometrium (RPKM 16.9), gall bladder (RPKM 15.1) and 24 other tissues See more
Orthologs

Genomic context

See SPSB1 in Genome Data Viewer
Location:
1p36.22
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (9292882..9369532)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9335202..9429591)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MIR34A host gene Neighboring gene long non coding transcriptional activator of miR34a Neighboring gene hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Neighboring gene VISTA enhancer hs1615 Neighboring gene long intergenic non-protein coding RNA 2606

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging involved in substrate recognition for ubiquitination IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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)

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_025106.4NP_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
    Q96BD6
    UniProtKB/TrEMBL
    A0A024R4G8
    Related
    ENSP00000330221.6, ENST00000328089.10
    Conserved Domains (2) summary
    cd03744
    Location:232273
    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:54227
    SPRY_SOCS1-2-4; SPRY domain in the suppressor of cytokine signaling 1, 2, 4 families (SOCS1, SOCS2, SOCS4)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    9292882..9369532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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