STAMBP

Last updated

STAMBP
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases STAMBP , AMSH, MICCAP, STAM binding protein
External IDs OMIM: 606247; MGI: 1917777; HomoloGene: 4719; GeneCards: STAMBP; OMA:STAMBP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006463
NM_201647
NM_213622

NM_024239
NM_001362078
NM_001362079
NM_001362080

RefSeq (protein)

NP_077201
NP_001349007
NP_001349008
NP_001349009

Location (UCSC)n/a Chr 6: 83.52 – 83.55 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

STAM-binding protein is a protein that in humans is encoded by the STAMBP gene. [4] [5]

Function

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. [5]

Clinical significance

Mutations in this gene have been associated with a unique congenital progressive encephalopathy known as MIC-CAP. [6]

Interactions

STAMBP has been shown to interact with RNF11, [7] Signal transducing adaptor molecule [4] [8] and GRAP2. [9] [10]

References

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006906 Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 1 2 Tanaka N, Kaneko K, Asao H, Kasai H, Endo Y, Fujita T, et al. (July 1999). "Possible involvement of a novel STAM-associated molecule "AMSH" in intracellular signal transduction mediated by cytokines". The Journal of Biological Chemistry. 274 (27): 19129–19135. doi: 10.1074/jbc.274.27.19129 . PMID   10383417.
  5. 1 2 "Entrez Gene: STAMBP STAM binding protein".
  6. McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, et al. (FORGE Canada Consortium) (2013). "Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome". Nature Genetics. 45 (5): 556–562. doi: 10.1038/ng.2602 . ISSN   1061-4036. PMC   4000253 . PMID   23542699.
  7. Li H, Seth A (March 2004). "An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein". Oncogene. 23 (10): 1801–1808. doi:10.1038/sj.onc.1207319. PMID   14755250. S2CID   37253372.
  8. Kato M, Miyazawa K, Kitamura N (December 2000). "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP". The Journal of Biological Chemistry. 275 (48): 37481–37487. doi: 10.1074/jbc.M007251200 . PMID   10982817.
  9. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
  10. Asada H, Ishii N, Sasaki Y, Endo K, Kasai H, Tanaka N, et al. (May 1999). "Grf40, A novel Grb2 family member, is involved in T cell signaling through interaction with SLP-76 and LAT". The Journal of Experimental Medicine. 189 (9): 1383–1390. doi:10.1084/jem.189.9.1383. PMC   2193052 . PMID   10224278.

Further reading