DAZAP1 (DAZ associated protein 1)

2012-11-01  

Identity

HGNC
DAZAP1
LOCATION
19p13.3
LOCUSID
26528
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26528
MIM: 607430
HGNC: 2683
Ensembl: ENSG00000071626

Variants:

dbSNP: 26528
ClinVar: 26528
TCGA: ENSG00000071626
COSMIC: DAZAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071626ENST00000233078Q96EP5
ENSG00000071626ENST00000233078A0A0S2Z569
ENSG00000071626ENST00000336761Q96EP5
ENSG00000071626ENST00000587079K7EK33
ENSG00000071626ENST00000592453K7EQ02
ENSG00000071626ENST00000592522K7EQ55

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
183910212008Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant.39
215763812011DAZAP1, an RNA-binding protein required for development and spermatogenesis, can regulate mRNA translation.19
244520132014The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration.19
218580802011Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.17
157443502005Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia.16
168487632006Phosphorylation of the ARE-binding protein DAZAP1 by ERK2 induces its dissociation from DAZ.13
192850262009DAZAP1 interacts via its RNA-recognition motifs with the C-termini of other RNA-binding proteins.11
162099982005Expression patterns of the DAZ-associated protein DAZAP1 in rat and human ovaries.5
231113262012Transcription-dependent nuclear localization of DAZAP1 requires an N-terminal signal.2
295058342018Specific intron-dependent loading of DAZAP1 onto the cox6c transcript suppresses pre-mRNA splicing efficacy and induces cell growth retardation.0

Citation

Dessen P

DAZAP1 (DAZ associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52989/dazap1