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HSPBAP1 (HSPB (heat shock 27kDa) associated protein 1)

Written2004-06Anita Bonné, Eric Schoenmakers, Ad Geurts van Kessel
Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

(Note : for Links provided by Atlas : click)

Identity

Other aliasPASS1
FLJ22623
3_123833568
LocusID (NCBI) 79663
Atlas_Id 513
Location 3q21.1  [Link to chromosome band 3q21]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DIRC3 (2q35) / HSPBAP1 (3q21.1)HSPBAP1 (3q21.1) / DIRC3 (2q35)

DNA/RNA

Description The HSPBAP1 gene covers 54.67 kb. The gene contains 13 confirmed introns, 12 of which are alternative. In the t(2;3)(q35;q21) translocation, HSPBAP1 was found to be fused to DIRC3.

Protein

Description 488 amino acids
Localisation Plasma membrane
Function The protein encodes a set of transcription factor jumonji, jmjC family members. The Transcription factor jumonji, jmjC motif, is found in 2 isoforms from this gene. Jumonji protein is required for neural tube formation in mice.There is evidence of domain swapping within the jumonji family of transcription factors. This domain is often associated with jmjN.

Implicated in

Note
  
Entity t(2;3)(q35;q21) and hereditary renal cell cancer.
Disease Familial renal cell cancer
Cytogenetics Disruption of the gene because of the t(2;3) translocation.
Hybrid/Mutated Gene DIRC3/HSPBAP1
  

Bibliography

Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).
Bodmer D, Schepens M, Eleveld MJ, Schoenmakers EF, Geurts van Kessel A
Genes, chromosomes & cancer. 2003 ; 38 (2) : 107-116.
PMID 12939738
 
Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain.
Jiang M, Ma Y, Cheng H, Ni X, Guo L, Xie Y, Mao Y
Cytogenetics and cell genetics. 2001 ; 95 (1-2) : 48-51.
PMID 11978969
 
Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27.
Liu C, Gilmont RR, Benndorf R, Welsh MJ
The Journal of biological chemistry. 2000 ; 275 (25) : 18724-18731.
PMID 10751411
 

Citation

This paper should be referenced as such :
Bonné, A ; Schoenmakers, EFPMG ; Geurts, van Kessel A
HSPBAP1 (HSPB (heat shock 27kDa) associated protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):214-214.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HSPBAP1ID513.html


External links

Nomenclature
Cards
AtlasHSPBAP1ID513.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)79663
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:39:06 CEST 2018

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