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

Identity

Other names	PASS1
	FLJ22623
	3_123833568
Hugo	HSPBAP1
Location	3q21.1

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

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

External links

	Nomenclature
Hugo	HSPBAP1
GDB	HSPBAP1
Entrez_Gene	HSPBAP1  79663  HSPB (heat shock 27kDa) associated protein 1
	Cards
Atlas	HSPBAP1ID513
GeneCards	HSPBAP1
Ensembl	HSPBAP1 [Search_View]   ENSG00000169087 [Gene_View]
Genatlas	HSPBAP1
GeneLynx	HSPBAP1
eGenome	HSPBAP1
euGene	79663
	Genomic and cartography
GoldenPath	HSPBAP1  -  3q21.1   chr3:123941536-123995340 -  3q21.1   [Description]    (hg18-Mar_2006)
Ensembl	HSPBAP1 - 3q21.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	HSPBAP1
	Gene and transcription
Genbank	AF400663 [ ENTREZ ]
Genbank	AK026276 [ ENTREZ ]
Genbank	AK096705 [ ENTREZ ]
Genbank	AK289410 [ ENTREZ ]
Genbank	BC011897 [ ENTREZ ]
RefSeq	NM_024610 [ SRS ]    NM_024610 [ ENTREZ ]
RefSeq	AC_000046 [ SRS ]    AC_000046 [ ENTREZ ]
RefSeq	AC_000135 [ SRS ]    AC_000135 [ ENTREZ ]
RefSeq	NC_000003 [ SRS ]    NC_000003 [ ENTREZ ]
RefSeq	NT_005612 [ SRS ]    NT_005612 [ ENTREZ ]
RefSeq	NW_001838882 [ SRS ]    NW_001838882 [ ENTREZ ]
RefSeq	NW_921807 [ SRS ]    NW_921807 [ ENTREZ ]
AceView	HSPBAP1 AceView - NCBI
Unigene	Hs.29169 [ SRS ]    Hs.29169 [ NCBI ]     HS29169 [ spliceNest ]
Fast-db	11661 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q96EW2 [ SRS]    Q96EW2 [ EXPASY ]     Q96EW2 [ INTERPRO ]
Prosite	PS51184 JMJC [ SRS ]    PS51184 JMJC [ Expasy ]
Interpro	IPR013296 PASS1 [ SRS ]    IPR013296 PASS1 [ EBI ]
Interpro	IPR013129 TF_JmjC [ SRS ]    IPR013129 TF_JmjC [ EBI ]
Interpro	IPR003347 TF_JmjC_AAH [ SRS ]    IPR003347 TF_JmjC_AAH [ EBI ]
CluSTr	Q96EW2
Pfam	PF02373 JmjC [ SRS ]    PF02373 JmjC [ Sanger ]    pfam02373 [ NCBI-CDD ]
Smart	SM00558 JmjC [EMBL]
Blocks	Q96EW2
PDB	HSPBAP1 [ SRS ]    HSPBAP1 [ PdbSum ],   HSPBAP1 [ IMB ]   HSPBAP1 [ RSDB ]
HPRD	12197
	Protein Interaction databases
DIP	Q96EW2
IntAct	Q96EW2
	Polymorphism : SNP, mutations, diseases
OMIM	608263    [ map ]
GENECLINICS	608263
SNP	HSPBAP1 [dbSNP-NCBI]
SNP	NM_024610 [SNP-NCI]
SNP	HSPBAP1 [GeneSNPs - Utah]  HSPBAP1] [HGBASE - SRS]
HAPMAP	HSPBAP1 [HAPMAP]
COSMIC	HSPBAP1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	HSPBAP1
	General knowledge
Family Browser	HSPBAP1 [UCSC Family Browser]
SOURCE	NM_024610
SMD	Hs.29169
SAGE	Hs.29169
GO	cytoplasm [Amigo]  cytoplasm
PubGene	HSPBAP1
TreeFam	HSPBAP1
CTD	79663 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	HSPBAP1 Related clones (RZPD - Berlin)
	PubMed
PubMed	5 Pubmed reference(s) in LocusLink

Bibliography

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

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

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	06-2004	Anita Bonné, Eric Schoenmakers, Ad Geurts van Kessel

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. June 2004 . URL : http://AtlasGeneticsOncology.org/Genes/HSPBAP1ID513.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 17:45:22 2008