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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
  • EC 3.1.2.15 63
  • 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 Endocytosis and Internalization of ErbB1. 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

Promoters for STAMBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STAMBP on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the STAMBP gene promoter:

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

Proteomics data for STAMBP Gene at MOPED

Selected DME Specific Peptides for STAMBP Gene

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

InterPro:
Blocks:
ProtoNet:

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:0008237 metallopeptidase activity IEA --
GO:0046872 metal ion binding 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

  • Taconic Biosciences Mouse Models for STAMBP

Inhibitory RNA Products

In Situ Assay 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
Jensen Localization Image for STAMBP Gene COMPARTMENTS Subcellular localization image for STAMBP gene
Compartment Confidence
endosome 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for STAMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005769 early endosome IEA --
GO:0070062 extracellular exosome IDA 19056867
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 BioSystems pathway 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:0007259 JAK-STAT cascade TAS 10383417
GO:0008284 positive regulation of cell proliferation TAS 10383417
GO:0043524 negative regulation of neuron apoptotic process IEA --
GO:0046580 negative regulation of Ras protein signal transduction 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

(2) Additional Compounds for STAMBP Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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 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, MOPED, and MaxQB for STAMBP Gene



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

Protein tissue co-expression partners for STAMBP Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia STAMBP 35
  • 90.54 (n)
  • 92.2 (a)
STAMBP 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STAMBP 35
  • 90.72 (n)
  • 94.58 (a)
STAMBP 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stambp 35
  • 80.66 (n)
  • 83.49 (a)
Stambp 16
Stambp 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STAMBP 35
  • 99.45 (n)
  • 99.53 (a)
STAMBP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stambp 35
  • 81.13 (n)
  • 84.2 (a)
oppossum
(Monodelphis domestica)
Mammalia STAMBP 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAMBP 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC771090 35
  • 71.38 (n)
  • 74.94 (a)
STAMBP 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STAMBP 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stambp 35
  • 68.68 (n)
  • 71.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3527 35
zebrafish
(Danio rerio)
Actinopterygii stambpa 35
  • 64.43 (n)
  • 64.99 (a)
zgc66147 35
stambpa 36
  • 64 (a)
OneToMany
stambpb 36
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000960 35
  • 50.38 (n)
  • 42.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2224 35
  • 53.1 (n)
  • 50 (a)
CG2224 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for STAMBP:
  • 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
VAR_069806 Microcephaly-capillary malformation syndrome (MICCAP)
VAR_069807 Microcephaly-capillary malformation syndrome (MICCAP)
VAR_069808 Microcephaly-capillary malformation syndrome (MICCAP)
VAR_069809 Microcephaly-capillary malformation syndrome (MICCAP)
VAR_069810 Microcephaly-capillary malformation syndrome (MICCAP)

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

Variant ID Type Subtype PubMed ID
dgv1197e1 CNV Complex 17122850
essv105 CNV CNV 17122850
nsv834260 CNV Gain 17160897
nsv2780 CNV Loss 18451855
esv269716 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
STAMBP
Human Gene Mutation Database (HGMD)
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. 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 67
  2. 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 23
  3. The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation. (PMID: 17711858) Row P.E. … Urbe S. (J. Biol. Chem. 2007) 3 23
  4. The ubiquitin isopeptidase UBPY regulates endosomal ubiquitin dynamics and is essential for receptor down-regulation. (PMID: 16520378) Row P.E. … Urbe S. (J. Biol. Chem. 2006) 3 23
  5. Clathrin anchors deubiquitinating enzymes, AMSH and AMSH-like protein, on early endosomes. (PMID: 16716190) Nakamura M. … Komada M. (Genes Cells 2006) 3 23

Products for STAMBP Gene

Sources for STAMBP Gene

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