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POC1A

GENERAL INFORMATION

Gene name

 POC1A

Gene description

 POC1 centriolar protein A

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (testis)
GTEx:Tissue enriched (testis)
FANTOM5:Tissue enriched (testis)

Protein evidence

 Evidence at protein level

Protein expression

 General granular cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA040600
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (testis)

GENE INFORMATION

Gene name

 POC1A (HGNC Symbol)

Synonyms

 DKFZP434C245, WDR51A

Description

 POC1 centriolar protein A (HGNC Symbol)

Entrez gene summary

 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

Chromosome

 3

Cytoband

 p21.2

Chromosome location (bp)

 52075253 - 52154690

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000164087 (version 83.38)

Entrez gene

 25886

UniProt

 Q8NBT0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8NBT0

Antibodypedia

 POC1A antibodies

PROTEIN BROWSER
POC1A-001
POC1A-002
POC1A-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
POC1A-001
ENSP00000296484
ENST00000296484
Q8NBT0 [Direct mapping]
POC1 centriolar protein homolog A
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922 [spindle pole]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0030030 [cell projection organization]
GO:0036064 [ciliary basal body]
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 407 aa
45 kDa 		No 0
POC1A-002
ENSP00000378421
ENST00000394970
Q8NBT0 [Direct mapping]
POC1 centriolar protein homolog A
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922 [spindle pole]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0030030 [cell projection organization]
GO:0036064 [ciliary basal body]
Show all
 359 aa
39.8 kDa 		No 0
POC1A-003
ENSP00000418968
ENST00000474012
Q8NBT0 [Direct mapping]
POC1 centriolar protein homolog A
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922 [spindle pole]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0030030 [cell projection organization]
GO:0036064 [ciliary basal body]
Show all
 369 aa
40.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.