STAMBP
STAM-binding protein
Also known as: AMSH, STABP_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95630
- Gene
- STAMBP
- Ensembl
- ENSG00000124356
- Chromosome
- 2
- Canonical length
- 424 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
424 residues, UniProt reviewed canonical sequence.
>O95630|STAMBP
1 MSDHGDVSLP PEDRVRALSQ LGSAVEVNED IPPRRYFRSG VEIIRMASIY SEEGNIEHAF
61 ILYNKYITLF IEKLPKHRDY KSAVIPEKKD TVKKLKEIAF PKAEELKAEL LKRYTKEYTE
121 YNEEKKKEAE ELARNMAIQQ ELEKEKQRVA QQKQQQLEQE QFHAFEEMIR NQELEKERLK
181 IVQEFGKVDP GLGGPLVPDL EKPSLDVFPT LTVSSIQPSD CHTTVRPAKP PVVDRSLKPG
241 ALSNSESIPT IDGLRHVVVP GRLCPQFLQL ASANTARGVE TCGILCGKLM RNEFTITHVL
301 IPKQSAGSDY CNTENEEELF LIQDQQGLIT LGWIHTHPTQ TAFLSSVDLH THCSYQMMLP
361 ESVAIVCSPK FQETGFFKLT DHGLEEISSC RQKGFHPHSK DPPLFCSCSH VTVVDRAVTI
421 TDLRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against STAMBP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 28 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 28 nTPM
- tongue: 24 nTPM
- duodenum: 16 nTPM
- rectum: 16 nTPM
- esophagus: 16 nTPM
- parathyroid gland: 16 nTPM
Single-cell type
- esophageal apical cells: 229 nCPM
- late spermatids: 212 nCPM
- megakaryocytes: 111 nCPM
- esophageal suprabasal cells: 110 nCPM
- myonuclei: 106 nCPM
- oligodendrocytes: 85 nCPM
Immune cell
- eosinophil: 27 nTPM
- basophil: 25 nTPM
- T-reg: 21 nTPM
- neutrophil: 21 nTPM
- intermediate monocyte: 20 nTPM
- memory B-cell: 19 nTPM
Brain region
- white matter: 31 nTPM
- medulla oblongata: 23 nTPM
- basal ganglia: 22 nTPM
- cerebellum: 21 nTPM
- spinal cord: 20 nTPM
- pons: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about STAMBP.
Disease | AllUniProt
Conditions STAMBP is implicated in, by any mechanism.
- Microcephaly-capillary malformation syndrome (MICCAP) MIM:614261
Disease | GeneticClinVar
27 pathogenic / likely-pathogenic of 251 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microcephaly-capillary malformation syndrome
- Ovarian serous cystadenocarcinoma
- STAMBP-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.76
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.89
- DepMap mean gene effect
- -0.43
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell surface receptor signaling pathway via JAK-STAT
- hippocampal neuron apoptotic process
- mitotic cytokinesis
- negative regulation of hippocampal neuron apoptotic process
- negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- negative regulation of Ras protein signal transduction
- positive regulation of cell population proliferation
- protein deubiquitination
- protein K63-linked deubiquitination
- proteolysis
Molecular functions
- deubiquitinase activity
- K63-linked deubiquitinase activity
- metal ion binding
- metal-dependent deubiquitinase activity
- protein domain specific binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of STAMBP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads STAMBP as an antibody target. Whether an autoantibody or antibody against STAMBP could matter depends on whether native STAMBP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
STAMBP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label STAMBP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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