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Aliases for SPSB1 Gene

Aliases for SPSB1 Gene

  • SplA/Ryanodine Receptor Domain And SOCS Box Containing 1 2 3 5
  • SSB-1 3 4
  • SSB1 3 4
  • SPRY Domain-Containing SOCS Box Protein SSB-1 3
  • SPRY Domain-Containing SOCS Box Protein 1 3
  • Novel SPRY Domain Containing Protein 3

External Ids for SPSB1 Gene

Previous GeneCards Identifiers for SPSB1 Gene

  • GC01P009288
  • GC01P008547

Summaries for SPSB1 Gene

GeneCards Summary for SPSB1 Gene

SPSB1 (SplA/Ryanodine Receptor Domain And SOCS Box Containing 1) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is SPSB4.

UniProtKB/Swiss-Prot for SPSB1 Gene

  • Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Wiki entry for SPSB1 Gene

Additional gene information for SPSB1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPSB1 Gene

Genomics for SPSB1 Gene

Regulatory Elements for SPSB1 Gene

Enhancers for SPSB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H009274 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -17.2 -17217 1 SIN3A ARID4B BATF RAD21 RARA RFX5 TCF12 GLIS2 EGR1 ATF7 SPSB1 H6PD SLC25A33 PIR55180
GH01H009278 1.3 Ensembl ENCODE dbSUPER 6.9 -12.6 -12563 3 ELF3 TBP TFAP4 SAP130 ARID4B MAX SIN3A CEBPG ZIC2 ZNF644 SPSB1 SLC2A5 H6PD PIK3CD PIR55180
GH01H009291 1.3 ENCODE dbSUPER 5.7 +1.1 1109 5 HDGF PKNOX1 ZNF133 ARID4B SIN3A FEZF1 YBX1 ZNF2 TCF12 ZNF121 SLC45A1 CLSTN1 LOC102724552 SPSB1 ENSG00000284652
GH01H009290 1.1 ENCODE dbSUPER 5 -2.6 -2571 1 PKNOX1 FOXA2 SIN3A RAD21 YY1 ZNF121 FOS USF2 CEBPB MAFF SPSB1 CTNNBIP1 PIR55180
GH01H009262 0.4 dbSUPER 12.5 -29.0 -29002 2 HIC1 HNF4A SPSB1 PIR53045 H6PD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPSB1 on UCSC Golden Path with GeneCards custom track

Promoters for SPSB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000250187 420 1801 HDGF ZNF133 ARID4B SIN3A YBX1 ZNF2 TCF12 ZNF121 GLIS2 ZNF207
ENSR00000001103 1620 201 ZNF146 JUN SIN3A YBX1 ZIC2 TCF12 JUND GLIS2 POLR2A PATZ1

Genomic Location for SPSB1 Gene

Chromosome:
1
Start:
9,292,880 bp from pter
End:
9,369,532 bp from pter
Size:
76,653 bases
Orientation:
Plus strand

Genomic View for SPSB1 Gene

Genes around SPSB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPSB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPSB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPSB1 Gene

Proteins for SPSB1 Gene

  • Protein details for SPSB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BD6-SPSB1_HUMAN
    Recommended name:
    SPRY domain-containing SOCS box protein 1
    Protein Accession:
    Q96BD6
    Secondary Accessions:
    • A2A275
    • Q59FA1
    • Q5TIH9
    • Q9BRY9
    • Q9H6C5

    Protein attributes for SPSB1 Gene

    Size:
    273 amino acids
    Molecular mass:
    30942 Da
    Quaternary structure:
    • Component of the probable ECS(SPSB1) E3 ubiquitin-protein ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and SPSB1 (PubMed:15601820). Interacts with CUL5, RNF7, ELOB and ELOC (PubMed:15601820). Directly interacts with MET tyrosine kinase domain in the presence and in the absence of HGF, however HGF treatment has a positive effect on this interaction (PubMed:15713673). When phosphorylated, interacts with RASA1 without affecting its stability (PubMed:15713673). Interacts (via B30.2/SPRY domain) with PAWR; this interaction is direct and occurs in association with the Elongin BC complex (PubMed:17189197, PubMed:20561531).
    SequenceCaution:
    • Sequence=BAD92796.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPSB1 Gene

neXtProt entry for SPSB1 Gene

Post-translational modifications for SPSB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPSB1 Gene

No data available for DME Specific Peptides for SPSB1 Gene

Domains & Families for SPSB1 Gene

Gene Families for SPSB1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SPSB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BD6

UniProtKB/Swiss-Prot:

SPSB1_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity). The B30.2/SPRY domain is involved in MET and PAWR binding (PubMed:15713673, PubMed:20561531).
  • Belongs to the SPSB family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity). The B30.2/SPRY domain is involved in MET and PAWR binding (PubMed:15713673, PubMed:20561531).
Family:
  • Belongs to the SPSB family.
genes like me logo Genes that share domains with SPSB1: view

Function for SPSB1 Gene

Molecular function for SPSB1 Gene

UniProtKB/Swiss-Prot Function:
Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Phenotypes From GWAS Catalog for SPSB1 Gene

Gene Ontology (GO) - Molecular Function for SPSB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 20561531
genes like me logo Genes that share ontologies with SPSB1: view
genes like me logo Genes that share phenotypes with SPSB1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SPSB1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SPSB1
  • Applied Biological Materials Clones for SPSB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPSB1 Gene

Localization for SPSB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPSB1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPSB1 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPSB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SPSB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPSB1 Gene

Pathways & Interactions for SPSB1 Gene

genes like me logo Genes that share pathways with SPSB1: view

UniProtKB/Swiss-Prot Q96BD6-SPSB1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for SPSB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with SPSB1: view

No data available for SIGNOR curated interactions for SPSB1 Gene

Drugs & Compounds for SPSB1 Gene

No Compound Related Data Available

Transcripts for SPSB1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SPSB1
  • Applied Biological Materials Clones for SPSB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPSB1 Gene

No ASD Table

Relevant External Links for SPSB1 Gene

GeneLoc Exon Structure for
SPSB1
ECgene alternative splicing isoforms for
SPSB1

Expression for SPSB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPSB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPSB1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPSB1 Gene



Protein tissue co-expression partners for SPSB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPSB1 Gene:

SPSB1

SOURCE GeneReport for Unigene cluster for SPSB1 Gene:

Hs.8261

Evidence on tissue expression from TISSUES for SPSB1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with SPSB1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPSB1 Gene

Orthologs for SPSB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPSB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPSB1 33 34
  • 99.39 (n)
oppossum
(Monodelphis domestica)
Mammalia SPSB1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPSB1 34 33
  • 91.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPSB1 34 33
  • 91.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Spsb1 33 16 34
  • 88.64 (n)
rat
(Rattus norvegicus)
Mammalia Spsb1 33
  • 88.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPSB1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPSB1 33 34
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia SPSB1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spsb1 33
  • 75.09 (n)
Str.16969 33
African clawed frog
(Xenopus laevis)
Amphibia nszf-e326-prov 33
zebrafish
(Danio rerio)
Actinopterygii spsb1 34 33
  • 74.24 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7541 33
fruit fly
(Drosophila melanogaster)
Insecta gus 34
  • 70 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8004 34
  • 48 (a)
OneToMany
Species where no ortholog for SPSB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPSB1 Gene

ENSEMBL:
Gene Tree for SPSB1 (if available)
TreeFam:
Gene Tree for SPSB1 (if available)

Paralogs for SPSB1 Gene

Paralogs for SPSB1 Gene

(3) SIMAP similar genes for SPSB1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SPSB1: view

Variants for SPSB1 Gene

Sequence variations from dbSNP and Humsavar for SPSB1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000106252 -- 9,338,034(+) CTCAG(C/T)TGGGG intron-variant
rs1000192268 -- 9,352,006(+) GCCTC(C/T)CTCCT intron-variant
rs1000222770 -- 9,357,392(+) AGGTG(G/T)TCTTT intron-variant
rs1000281576 -- 9,356,700(+) TATTC(C/T)AGTGT intron-variant
rs1000295711 -- 9,326,080(+) AGTTC(A/G)TCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPSB1 Gene

Variant ID Type Subtype PubMed ID
dgv12e212 CNV gain 25503493
dgv13e212 CNV gain 25503493
dgv16n100 CNV gain 25217958
dgv17n100 CNV gain 25217958
dgv2e55 CNV gain 17911159
dgv3n27 CNV gain 19166990
dgv96n54 CNV gain 21841781
dgv97n54 CNV gain 21841781
esv1000068 CNV insertion 20482838
esv2201511 CNV deletion 18987734
esv2743574 CNV deletion 23290073
esv2743586 CNV deletion 23290073
esv2750845 CNV gain 17911159
esv2763409 CNV gain 21179565
esv3577722 CNV loss 25503493
esv3585168 CNV gain 21293372
esv3585169 CNV gain 21293372
nsv464172 CNV loss 19166990
nsv520191 CNV gain 19592680
nsv545350 CNV gain 21841781
nsv545362 CNV loss 21841781
nsv832092 CNV loss 17160897

Variation tolerance for SPSB1 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPSB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPSB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPSB1 Gene

Disorders for SPSB1 Gene

Relevant External Links for SPSB1

Genetic Association Database (GAD)
SPSB1
Human Genome Epidemiology (HuGE) Navigator
SPSB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPSB1

No disorders were found for SPSB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPSB1 Gene

Publications for SPSB1 Gene

  1. The SPRY domain-containing SOCS box protein 1 (SSB-1) interacts with MET and enhances the hepatocyte growth factor-induced Erk-Elk-1-serum response element pathway. (PMID: 15713673) Wang D … Wu G (The Journal of biological chemistry 2005) 2 3 4 22 60
  2. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Structural basis for Par-4 recognition by the SPRY domain- and SOCS box-containing proteins SPSB1, SPSB2, and SPSB4. (PMID: 20561531) Filippakopoulos P … Bullock AN (Journal of molecular biology 2010) 3 4 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60

Products for SPSB1 Gene

  • Addgene plasmids for SPSB1

Sources for SPSB1 Gene

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