ESCRT-1, UBAP1 ()p13.3)

ESCRT-I,   UBAP1

https://www.ncbi.nlm.nih.gov/gene/51271

Also known as UAP; UBAP; NAG20; UBAP-1 Summary

This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studied as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression , Ubiquitous expression in bone marrow (RPKM 39.6), testis (RPKM 26.3) and 25 other tissues See more, Orthologs mouse all

"UBAP1 is a component of an endosome specific ESCRT-1 complex that is essential for MVB sorting."

"Expression (upregulated)  of UBA1gene and (downregulated) TSGp16 in acute leucemia"

Conserved Domains (2) summary

cd14315
Location:452 → 494

UBA1_UBAP1; UBA1 domain found in vertebrate ubiquitin-associated protein 1 (UBAP-1)

cd14316
Location:524 → 560

UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

Peptide sequence 538 a.a.

https://www.ncbi.nlm.nih.gov/protein/NP_001164673.1

Related articles in PubMed

1. Purification of novel UBAP1 protein and its decreased expression on nasopharyngeal carcinoma tissue microarray. Xiao B, et al. Protein Expr Purif, 2006 May. PMID 16226037
2. [Identification of digital differential expression patterns of a novel human gene (UBAP1) by an expressed sequence tag strategy]. Qian J, et al. Ai Zheng, 2002 Mar. PMID 12451983
3. Cloning and Expression Analysis of a Novel Gene, UBAP1, Possibly Involved in Ubiquitin Pathway. Qian J, et al. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai), 2001. PMID 12050802
4. A Pseudomonas aeruginosa TIR effector mediates immune evasion by targeting UBAP1 and TLR adaptors. Imbert PR, et al. EMBO J, 2017 Jul 3. PMID 28483816, Free PMC Article
5. [Expression of ubiquitin associated protein 1 gene and tumor-suppressor gene p16 in acute leukemia]. Guan LJ, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010 Oct. PMID 21129243
   

See all (41) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. Combined targeting of UBAP1 and toll-like receptor adaptors TIRAP and MyD88 by Pseudomonas aeruginosa PumA impedes both cytokine and toll-like receptor signalling, highlighting a novel strategy for innate immune evasion.
2. Results present crystal structures of the coiled-coil domain of the HD-PTP phosphatase and its complex with UBAP1. The coiled-coil domain adopts an unexpected open and rigid conformation. The HD-PTP:UBAP1 structure identifies the molecular determinants of the interaction and provides a molecular basis for the specific functional cooperation between HD-PTP and UBAP1.
3. The biochemical specificity in ESCRT-I assembly is matched by functional specialisation as siRNA-mediated depletion of UBAP1
4. The upregulation of ubap1 gene expression mainly and the downregulation of p16 gene expression mainly may simultaneously participate in the pathogenesis of acute leukemia.
5. Observational study of gene-disease association. (HuGE Navigator)
6. Our data for the first time identifies UBAP1 as a genetic risk factor for FTLD and suggests a mechanistic relationship between this protein and TDP-43. In addition, we identified a case of familial FTLD that demonstrated colocalisation of UBAP1 and TDP-43 in the neuronal cytoplasmic inclusions in the brain of this individual. Our data for the first time identifies UBAP1 as a genetic risk factor for FTLD and suggests a mechanistic relationship between this protein and TDP-43 (Transactive response DNA-binding protein of 43 kDa).
7. Decreased expression of UBAP1 protein is a possible point of dysfunction along the pathogenesis pathway for nasopharyngeal carcinoma that may contribute to malignant transformation.
8. the identification of differential expression patterns of ubap1 in different tumors.
   

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Reference: Simo Sjödin: Evaluation of the endo-lysosomal system nd the ubiquitin-proteosome system in neurodegenerative diseases. , http://hdl.handle.net/2077/54533 , page 7-8