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Aliases for STAMBP Gene

Aliases for STAMBP Gene

  • STAM Binding Protein 2 3 5
  • Associated Molecule With The SH3 Domain Of STAM 3 4
  • Endosome-Associated Ubiquitin Isopeptidase 3 4
  • AMSH 3 4
  • Testicular Secretory Protein Li 54 3
  • STAM-Binding Protein 3
  • EC 3.1.2.15 61
  • EC 3.4.19.- 4
  • MICCAP 3

External Ids for STAMBP Gene

Previous GeneCards Identifiers for STAMBP Gene

  • GC02P074030
  • GC02P073968
  • GC02P074056

Summaries for STAMBP Gene

Entrez Gene Summary for STAMBP Gene

  • Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for STAMBP Gene

STAMBP (STAM Binding Protein) is a Protein Coding gene. Diseases associated with STAMBP include Microcephaly-Capillary Malformation Syndrome and Microcephaly. Among its related pathways are Internalization of ErbB1 and EGFR1 Signaling Pathway. GO annotations related to this gene include protein domain specific binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is STAMBPL1.

UniProtKB/Swiss-Prot for STAMBP Gene

  • Zinc metalloprotease that specifically cleaves Lys-63-linked polyubiquitin chains. Does not cleave Lys-48-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways.

Gene Wiki entry for STAMBP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAMBP Gene

Genomics for STAMBP Gene

Regulatory Elements for STAMBP Gene

Enhancers for STAMBP 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
GH02F073892 1.7 FANTOM5 Ensembl ENCODE 15.7 +64.8 64834 3.2 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 STAMBP SEMA4F SMYD5 ACTG2 C2orf81 MTHFD2 DGUOK TET3 DCTN1 BOLA3
GH02F073925 1.4 FANTOM5 ENCODE 11.3 +98.1 98118 3.5 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ACTG2 STAMBP BOLA3 BOLA3-AS1 DUSP11 DGUOK-AS1 DGUOK GC02M073969
GH02F073968 1.4 Ensembl ENCODE 10.5 +142.1 142085 5.2 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SEMA4F C2orf81 LOC107985899 KRT18P26 RPSAP28 SMYD5 DGUOK-AS1 DCTN1 DGUOK WBP1
GH02F073921 1.2 Ensembl ENCODE 11.3 +92.4 92386 0.6 HDGF ATF1 PKNOX1 ARNT SIN3A DMAP1 YY1 GLIS2 KDM4B KLF13 ACTG2 STAMBP BOLA3 BOLA3-AS1 DGUOK GC02M073905
GH02F073877 0.7 Ensembl 16.7 +48.7 48685 0.8 BCOR SMARCA5 CTCF PKNOX1 ZNF280D L3MBTL2 REST TBX21 RAD21 ATF3 STAMBP DGUOK TET3 BOLA3 BOLA3-AS1 LOC100420774 ACTG2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STAMBP on UCSC Golden Path with GeneCards custom track

Promoters for STAMBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000592897 184 1801 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for STAMBP Gene

Chromosome:
2
Start:
73,828,916 bp from pter
End:
73,873,659 bp from pter
Size:
44,744 bases
Orientation:
Plus strand

Genomic View for STAMBP Gene

Genes around STAMBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for STAMBP Gene

Proteins for STAMBP Gene

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

    Protein Symbol:
    O95630-STABP_HUMAN
    Recommended name:
    STAM-binding protein
    Protein Accession:
    O95630
    Secondary Accessions:
    • B5M0B6
    • D6W5H7
    • Q3MJE7

    Protein attributes for STAMBP Gene

    Size:
    424 amino acids
    Molecular mass:
    48077 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with STAM. Interacts with SMAD6 and SMAD7. Interacts with CHMP3; the interaction appears to relieve the autoinhibition of CHMP3. Interacts with SMURF2 and RNF11; this interaction promotes ubiquitination.
    Miscellaneous:
    • X-ray crystallography studies of STAMBPL1, another member of the peptidase M67C family, has shown that Glu-280 binds zinc indirectly via a water molecule. Nevertheless, this residue is essential for catalytic activity.

    Three dimensional structures from OCA and Proteopedia for STAMBP Gene

    Alternative splice isoforms for STAMBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAMBP Gene

Selected DME Specific Peptides for STAMBP Gene

O95630:
  • AFILYNKYITLFIEKLPKHRDYK
  • CRQKGFHPH
  • ETCGILCGKL
  • AIVCSPKFQETGFFKLTD
  • SSVDLHTHCSYQ

Post-translational modifications for STAMBP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for STAMBP (AMSH)
  • Cloud-Clone Corp. Antibodies for STAMBP

Domains & Families for STAMBP Gene

Protein Domains for STAMBP Gene

Suggested Antigen Peptide Sequences for STAMBP Gene

Graphical View of Domain Structure for InterPro Entry

O95630

UniProtKB/Swiss-Prot:

STABP_HUMAN :
  • The JAMM motif is essential for the protease activity.
  • Belongs to the peptidase M67C family.
Domain:
  • The JAMM motif is essential for the protease activity.
  • Contains 1 MPN (JAB/Mov34) domain.
Family:
  • Belongs to the peptidase M67C family.
genes like me logo Genes that share domains with STAMBP: view

No data available for Gene Families for STAMBP Gene

Function for STAMBP Gene

Molecular function for STAMBP Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by N-ethylmaleimide.
UniProtKB/Swiss-Prot Function:
Zinc metalloprotease that specifically cleaves Lys-63-linked polyubiquitin chains. Does not cleave Lys-48-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways.

Enzyme Numbers (IUBMB) for STAMBP Gene

Gene Ontology (GO) - Molecular Function for STAMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 18388320
GO:0005515 protein binding IPI 10383417
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with STAMBP: view
genes like me logo Genes that share phenotypes with STAMBP: view

Human Phenotype Ontology for STAMBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAMBP Gene

MGI Knock Outs for STAMBP:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for STAMBP Gene

Localization for STAMBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAMBP Gene

Nucleus. Membrane; Peripheral membrane protein. Cytoplasm. Early endosome.

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 STAMBP gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
endosome 5
lysosome 2

Gene Ontology (GO) - Cellular Components for STAMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 10383417
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
genes like me logo Genes that share ontologies with STAMBP: view

Pathways & Interactions for STAMBP Gene

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

Pathways by source for STAMBP Gene

1 KEGG pathway for STAMBP Gene
1 R&D Systems pathway for STAMBP Gene

Gene Ontology (GO) - Biological Process for STAMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 18388320
GO:0006508 proteolysis IEA --
GO:0007259 JAK-STAT cascade TAS 10383417
GO:0008284 positive regulation of cell proliferation TAS 10383417
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IMP 23542699
genes like me logo Genes that share ontologies with STAMBP: view

No data available for SIGNOR curated interactions for STAMBP Gene

Drugs & Compounds for STAMBP Gene

(1) Drugs for STAMBP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(1) Additional Compounds for STAMBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STAMBP: view

Transcripts for STAMBP Gene

Unigene Clusters for STAMBP Gene

STAM binding protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - -
SP2: -
SP3:
SP4: - - - -
SP5: - -
SP6: -
SP7:
SP8: - -

Relevant External Links for STAMBP Gene

GeneLoc Exon Structure for
STAMBP
ECgene alternative splicing isoforms for
STAMBP

Expression for STAMBP Gene

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

Protein differential expression in normal tissues from HIPED for STAMBP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.5) and Cervix (11.2).

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



Protein tissue co-expression partners for STAMBP Gene

NURSA nuclear receptor signaling pathways regulating expression of STAMBP Gene:

STAMBP

SOURCE GeneReport for Unigene cluster for STAMBP Gene:

Hs.469018

mRNA Expression by UniProt/SwissProt for STAMBP Gene:

O95630-STABP_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with STAMBP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for STAMBP Gene

Orthologs for STAMBP Gene

This gene was present in the common ancestor of animals.

Orthologs for STAMBP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAMBP 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia STAMBP 34 35
  • 90.72 (n)
cow
(Bos Taurus)
Mammalia STAMBP 34 35
  • 90.54 (n)
rat
(Rattus norvegicus)
Mammalia Stambp 34
  • 81.13 (n)
mouse
(Mus musculus)
Mammalia Stambp 34 16 35
  • 80.66 (n)
oppossum
(Monodelphis domestica)
Mammalia STAMBP 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAMBP 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC771090 34
  • 71.38 (n)
STAMBP 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STAMBP 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stambp 34
  • 68.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3527 34
zebrafish
(Danio rerio)
Actinopterygii stambpa 34 35
  • 64.43 (n)
stambpb 35
  • 60 (a)
OneToMany
zgc66147 34
fruit fly
(Drosophila melanogaster)
Insecta CG2224 34 35
  • 53.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000960 34
  • 50.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
Species where no ortholog for STAMBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 STAMBP Gene

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

Paralogs for STAMBP Gene

Paralogs for STAMBP Gene

(1) SIMAP similar genes for STAMBP Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for STAMBP Gene

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

Variants for STAMBP Gene

Sequence variations from dbSNP and Humsavar for STAMBP Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs143739249 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261], Pathogenic 73,830,968(+) ACTTC(C/T)GCTCT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs202100019 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] 73,850,446(+) CAACA(C/T)AGAGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs397509387 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261], Pathogenic 73,830,981(+) AGTTG(A/G)GATTA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs397514697 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261], Pathogenic 73,845,186(+) TGCAT(A/T)TCCCA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs781694797 Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] 73,831,044(+) CCTCT(A/G)TAACA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2759060 CNV gain 17122850
esv3305439 CNV mobile element insertion 20981092
esv3324638 CNV insertion 20981092
nsv2780 CNV deletion 18451855
nsv834260 CNV gain 17160897

Variation tolerance for STAMBP Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STAMBP Gene

Human Gene Mutation Database (HGMD)
STAMBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAMBP

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

Disorders for STAMBP Gene

MalaCards: The human disease database

(5) MalaCards diseases for STAMBP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly-capillary malformation syndrome
  • mic-cap syndrome
microcephaly
  • microcephalus
capillary disease
  • disease of capillaries
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
dental pulp disease
  • dental pulp disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

STABP_HUMAN
  • Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]: A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects. {ECO:0000269 PubMed:23542699}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for STAMBP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STAMBP
genes like me logo Genes that share disorders with STAMBP: view

No data available for Genatlas for STAMBP Gene

Publications for STAMBP Gene

  1. Targeting of AMSH to endosomes is required for epidermal growth factor receptor degradation. (PMID: 17261583) Ma Y.M. … Kirchhausen T. (J. Biol. Chem. 2007) 3 4 22 64
  2. AMSH is an endosome-associated ubiquitin isopeptidase. (PMID: 15314065) McCullough J. … Urbe S. (J. Cell Biol. 2004) 3 4 22 64
  3. Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads. (PMID: 11483516) Itoh F. … Itoh S. (EMBO J. 2001) 3 4 22 64
  4. Possible involvement of a novel STAM-associated molecule 'AMSH' in intracellular signal transduction mediated by cytokines. (PMID: 10383417) Tanaka N. … Sugamura K. (J. Biol. Chem. 1999) 2 3 4 64
  5. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. (PMID: 23542699) McDonell L.M. … Boycott K.M. (Nat. Genet. 2013) 3 4 64

Products for STAMBP Gene

Sources for STAMBP Gene

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