POC1A (POC1 centriolar protein A)

2003-12-01  

Identity

HGNC
POC1A
LOCATION
3p21.2
LOCUSID
25886
ALIAS
PIX2,SOFT,WDR51A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25886
MIM: 614783
HGNC: 24488
Ensembl: ENSG00000164087

Variants:

dbSNP: 25886
ClinVar: 25886
TCGA: ENSG00000164087
COSMIC: POC1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164087ENST00000296484Q8NBT0
ENSG00000164087ENST00000394970Q8NBT0
ENSG00000164087ENST00000474012Q8NBT0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
228403642012POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.33
230155942013Poc1A and Poc1B act together in human cells to ensure centriole integrity.21
228403632012Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.20
180687002008Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells.14
263361582015Truncation of POC1A associated with short stature and extreme insulin resistance.6
261628522015Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.5
267913572016SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.2

Citation

Dessen P

POC1A (POC1 centriolar protein A)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40313/poc1a