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

2004-06-01 Anita Bonné , Eric Schoenmakers , Ad Geurts van Kessel Affiliation

Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

Identity

HGNC

HSPBAP1

LOCATION

3q21.1

LOCUSID

79663

ALIAS

PASS1

FUSION GENES

Show Gene Fusions

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

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17568411	2007	HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy.	5
25359680	2015	Androgen receptor-interacting protein HSPBAP1 facilitates growth of prostate cancer cells in androgen-deficient conditions.	4
11978969	2001	Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain.	3

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