HSPBAP1 (HSPB (heat shock 27kDa) associated protein 1)
2004-06-01 Anita Bonné , Eric Schoenmakers , Ad Geurts van Kessel AffiliationDepartment of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
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.
Proteins
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 name
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 gene
DIRC3/HSPBAP1
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12939738 | 2003 | 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 et al |
| 11978969 | 2001 | Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain. | Jiang M et al |
| 10751411 | 2000 | Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27. | Liu C et al |
Other Information
Locus ID:
NCBI: 79663
MIM: 608263
HGNC: 16389
Ensembl: ENSG00000169087
Variants:
dbSNP: 79663
ClinVar: 79663
TCGA: ENSG00000169087
COSMIC: HSPBAP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169087 | ENST00000306103 | Q96EW2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25359680 | 2015 | Androgen receptor-interacting protein HSPBAP1 facilitates growth of prostate cancer cells in androgen-deficient conditions. | 7 |
| 25359680 | 2015 | Androgen receptor-interacting protein HSPBAP1 facilitates growth of prostate cancer cells in androgen-deficient conditions. | 7 |
| 17568411 | 2007 | HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy. | 10 |
| 17568411 | 2007 | HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy. | 10 |
| 11978969 | 2001 | Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain. | 4 |
| 11978969 | 2001 | Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain. | 4 |
Citation
Anita Bonné ; Eric Schoenmakers ; Ad Geurts van Kessel
HSPBAP1 (HSPB (heat shock 27kDa) associated protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2004-06-01
Online version: http://atlasgeneticsoncology.org/gene/513/hspbap1-(hspb-(heat-shock-27kda)-associated-protein-1)
