POC1A POC1 centriolar protein A [Homo sapiens (human)] - Gene

Summary

Official Symbol: POC1Aprovided by HGNC
Official Full Name: POC1 centriolar protein Aprovided by HGNC
Primary source: HGNC:HGNC:24488
See related: Ensembl:ENSG00000164087 MIM:614783; AllianceGenome:HGNC:24488
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIX2; SOFT; WDR51A
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]
Expression: Broad expression in testis (RPKM 5.0), bone marrow (RPKM 2.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52075226..52154423, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52108129..52187328, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52109242..52188439, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis.
Title: Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis.
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Title: Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer.
Title: POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer.
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Title: Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families.
Title: SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement.
Title: Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance.
Title: Truncation of POC1A associated with short stature and extreme insulin resistance.
Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression.
Title: Poc1A and Poc1B act together in human cells to ensure centriole integrity.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Title: POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Title: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MedGen: C3542022 OMIM: 614813 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_11811-11812:1029265368:1 (e-PCR)
- UniSTS:267268

SHGC-146170 (e-PCR)
- UniSTS:172558

D3S4107 (e-PCR)
- UniSTS:68379

SHGC-2444 (e-PCR)
- UniSTS:91471

RH99127 (e-PCR)
- UniSTS:88216

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: POC1 centriolar protein homolog A

Names: WD repeat domain 51A; WD repeat-containing protein 51A; proteome of centriole protein 1A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032947.1 RefSeqGene

Range

5268..84465

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161580.2 → NP_001155052.1 POC1 centriolar protein homolog A isoform 2

See identical proteins and their annotated locations for NP_001155052.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.

Source sequence(s)

AC115284, BC110877, CA944751

Consensus CDS

CCDS54592.1

UniProtKB/Swiss-Prot

Q8NBT0

Related

ENSP00000378421.2, ENST00000394970.6

Conserved Domains (2) summary

cd00200
Location:11 → 299

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]
NM_001161581.2 → NP_001155053.1 POC1 centriolar protein homolog A isoform 3

See identical proteins and their annotated locations for NP_001155053.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1 and initiates translation at an in-frame downstream AUG. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC115284, BC110877, BC119693, CA944751

Consensus CDS

CCDS54591.1

UniProtKB/TrEMBL

B2RDV4

Related

ENSP00000418968.1, ENST00000474012.1

Conserved Domains (2) summary

cd00200
Location:19 → 260

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:26 → 63

7WD40; WD40 repeat [structural motif]
NM_015426.5 → NP_056241.3 POC1 centriolar protein homolog A isoform 1

See identical proteins and their annotated locations for NP_056241.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC115284, BC110877, BC119692, CA944751

Consensus CDS

CCDS2846.1

UniProtKB/Swiss-Prot

A4FUW4, E9PFC6, Q0VDF8, Q2TAK6, Q8NBT0, Q96IK6, Q9UFJ8

Related

ENSP00000296484.2, ENST00000296484.7

Conserved Domains (2) summary

cd00200
Location:11 → 299

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

52075226..52154423 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533561.2 → XP_011531863.1 POC1 centriolar protein homolog A isoform X3

See identical proteins and their annotated locations for XP_011531863.1

Conserved Domains (3) summary

COG2319
Location:15 → 298

WD40; WD40 repeat [General function prediction only]

cd00200
Location:11 → 292

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]
XM_011533560.2 → XP_011531862.1 POC1 centriolar protein homolog A isoform X1

Conserved Domains (3) summary

COG2319
Location:13 → 293

WD40; WD40 repeat [General function prediction only]

cd00200
Location:11 → 292

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]
XM_047447908.1 → XP_047303864.1 POC1 centriolar protein homolog A isoform X6
XM_047447907.1 → XP_047303863.1 POC1 centriolar protein homolog A isoform X2
XM_017006104.2 → XP_016861593.1 POC1 centriolar protein homolog A isoform X4

UniProtKB/TrEMBL

B2RDV4

Conserved Domains (3) summary

COG2319
Location:2 → 263

WD40; WD40 repeat [General function prediction only]

cd00200
Location:19 → 260

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:26 → 63

7WD40; WD40 repeat [structural motif]
XM_011533563.2 → XP_011531865.1 POC1 centriolar protein homolog A isoform X7

See identical proteins and their annotated locations for XP_011531865.1

Conserved Domains (2) summary

cd00200
Location:7 → 226

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]
XM_011533562.3 → XP_011531864.1 POC1 centriolar protein homolog A isoform X5

Conserved Domains (3) summary

COG2319
Location:13 → 295

WD40; WD40 repeat [General function prediction only]

cd00200
Location:11 → 295

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]
XM_047447909.1 → XP_047303865.1 POC1 centriolar protein homolog A isoform X7
XM_011533565.3 → XP_011531867.1 POC1 centriolar protein homolog A isoform X7

See identical proteins and their annotated locations for XP_011531867.1

Conserved Domains (2) summary

cd00200
Location:7 → 226

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:23 → 59

7WD40; WD40 repeat [structural motif]