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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

Alias_namesHSPB (heat shock 27kDa) associated protein 1
Alias_symbol (synonym)FLJ22623
PASS1
Other alias3_123833568
HGNC (Hugo) HSPBAP1
LocusID (NCBI) 79663
Atlas_Id 513
Location 3q21.1  [Link to chromosome band 3q21]
Location_base_pair Starts at 122458844 and ends at 122512666 bp from pter ( according to hg19-Feb_2009)  [Mapping HSPBAP1.png]
Fusion genes
(updated 2016)
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
HGNC (Hugo)HSPBAP1   16389
Cards
AtlasHSPBAP1ID513
Entrez_Gene (NCBI)HSPBAP1  79663  HSPB1 associated protein 1
AliasesPASS1
GeneCards (Weizmann)HSPBAP1
Ensembl hg19 (Hinxton)ENSG00000169087 [Gene_View]  chr3:122458844-122512666 [Contig_View]  HSPBAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169087 [Gene_View]  chr3:122458844-122512666 [Contig_View]  HSPBAP1 [Vega]
ICGC DataPortalENSG00000169087
TCGA cBioPortalHSPBAP1
AceView (NCBI)HSPBAP1
Genatlas (Paris)HSPBAP1
WikiGenes79663
SOURCE (Princeton)HSPBAP1
Genetics Home Reference (NIH)HSPBAP1
Genomic and cartography
GoldenPath hg19 (UCSC)HSPBAP1  -     chr3:122458844-122512666 -  3q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSPBAP1  -     3q21.1   [Description]    (hg38-Dec_2013)
EnsemblHSPBAP1 - 3q21.1 [CytoView hg19]  HSPBAP1 - 3q21.1 [CytoView hg38]
Mapping of homologs : NCBIHSPBAP1 [Mapview hg19]  HSPBAP1 [Mapview hg38]
OMIM608263   
Gene and transcription
Genbank (Entrez)AF400663 AK026276 AK096705 AK289410 BC011897
RefSeq transcript (Entrez)NM_001320728 NM_024610
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_030032 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)HSPBAP1
Cluster EST : UnigeneHs.29169 [ NCBI ]
CGAP (NCI)Hs.29169
Alternative Splicing GalleryENSG00000169087
Gene ExpressionHSPBAP1 [ NCBI-GEO ]   HSPBAP1 [ EBI - ARRAY_EXPRESS ]   HSPBAP1 [ SEEK ]   HSPBAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)HSPBAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79663
GTEX Portal (Tissue expression)HSPBAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EW2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EW2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EW2
Splice isoforms : SwissVarQ96EW2
PhosPhoSitePlusQ96EW2
Domaine pattern : Prosite (Expaxy)JMJC (PS51184)   
Domains : Interpro (EBI)HSPB1-associated_protein_1    JmjC_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)JmjC (SM00558)  
Conserved Domain (NCBI)HSPBAP1
DMDM Disease mutations79663
Blocks (Seattle)HSPBAP1
SuperfamilyQ96EW2
Human Protein AtlasENSG00000169087
Peptide AtlasQ96EW2
HPRD12197
IPIIPI00440544   IPI00298207   IPI00303932   
Protein Interaction databases
DIP (DOE-UCLA)Q96EW2
IntAct (EBI)Q96EW2
FunCoupENSG00000169087
BioGRIDHSPBAP1
STRING (EMBL)HSPBAP1
ZODIACHSPBAP1
Ontologies - Pathways
QuickGOQ96EW2
Ontology : AmiGOprotein binding  cytoplasm  
Ontology : EGO-EBIprotein binding  cytoplasm  
NDEx NetworkHSPBAP1
Atlas of Cancer Signalling NetworkHSPBAP1
Wikipedia pathwaysHSPBAP1
Orthology - Evolution
OrthoDB79663
GeneTree (enSembl)ENSG00000169087
Phylogenetic Trees/Animal Genes : TreeFamHSPBAP1
HOVERGENQ96EW2
HOGENOMQ96EW2
Homologs : HomoloGeneHSPBAP1
Homology/Alignments : Family Browser (UCSC)HSPBAP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSPBAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSPBAP1
dbVarHSPBAP1
ClinVarHSPBAP1
1000_GenomesHSPBAP1 
Exome Variant ServerHSPBAP1
ExAC (Exome Aggregation Consortium)HSPBAP1 (select the gene name)
Genetic variants : HAPMAP79663
Genomic Variants (DGV)HSPBAP1 [DGVbeta]
DECIPHER (Syndromes)3:122458844-122512666  ENSG00000169087
CONAN: Copy Number AnalysisHSPBAP1 
Mutations
ICGC Data PortalHSPBAP1 
TCGA Data PortalHSPBAP1 
Broad Tumor PortalHSPBAP1
OASIS PortalHSPBAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSPBAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSPBAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HSPBAP1
DgiDB (Drug Gene Interaction Database)HSPBAP1
DoCM (Curated mutations)HSPBAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSPBAP1 (select a term)
intoGenHSPBAP1
NCG5 (London)HSPBAP1
Cancer3DHSPBAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608263   
Orphanet23138   
MedgenHSPBAP1
Genetic Testing Registry HSPBAP1
NextProtQ96EW2 [Medical]
TSGene79663
GENETestsHSPBAP1
Huge Navigator HSPBAP1 [HugePedia]
snp3D : Map Gene to Disease79663
BioCentury BCIQHSPBAP1
ClinGenHSPBAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79663
Chemical/Pharm GKB GenePA29515
Clinical trialHSPBAP1
Miscellaneous
canSAR (ICR)HSPBAP1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSPBAP1
EVEXHSPBAP1
GoPubMedHSPBAP1
iHOPHSPBAP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:42:18 CET 2017

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