POC1B POC1 centriolar protein B [Homo sapiens (human)] - Gene

Summary

Official Symbol: POC1Bprovided by HGNC
Official Full Name: POC1 centriolar protein Bprovided by HGNC
Primary source: HGNC:HGNC:30836
See related: Ensembl:ENSG00000139323 MIM:614784; AllianceGenome:HGNC:30836
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: PIX1; CORD20; TUWD12; WDR51B
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. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Expression: Ubiquitous expression in colon (RPKM 7.2), small intestine (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (89419718..89526047, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (89401658..89507903, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (89813495..89919824, complement)

Chromosome 12 - NC_000012.12 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
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?

Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Title: Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.
Title: Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.
Title: Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.
A homozygous POC1B variant causes recessive cone-rod dystrophy.
Title: A homozygous POC1B variant causes recessive cone-rod dystrophy.
Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure.
Title: Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure.
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Title: Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Title: Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.
Title: Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Compound heterozygous mutation in the POC1B gene is associated with peripheral cone dystrophy.
Title: Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases.
Title: Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Cone-rod dystrophy 20 MedGen: C4014856 OMIM: 615973 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH69261 (e-PCR)
- UniSTS:68163

D12S1429 (e-PCR)
- UniSTS:81489

RH94137 (e-PCR)
- UniSTS:89169

G64424 (e-PCR)
- UniSTS:163921

D12S1071 (e-PCR)
- UniSTS:6997

RH17759 (e-PCR)
- UniSTS:67927

SHGC-107392 (e-PCR)
- UniSTS:170332

D12S1373 (e-PCR)
- UniSTS:153693

WI-14715 (e-PCR)
- UniSTS:64889

G64452 (e-PCR)
- UniSTS:163983

SHGC-36408 (e-PCR)
- UniSTS:61866

RH45433 (e-PCR)
- UniSTS:78551

D12S2100 (e-PCR)
- UniSTS:61947

Readthrough POC1B-GALNT4

Readthrough gene: POC1B-GALNT4, Included gene: GALNT4

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 cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centriole replication	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed

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 B

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

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_041783.1 RefSeqGene

Range

5216..111545

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199777.2 → NP_001186706.1 POC1 centriolar protein homolog B isoform b

See identical proteins and their annotated locations for NP_001186706.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AK027829, AK123106, AW149266, BU521431, DA851891

Consensus CDS

CCDS55859.1

UniProtKB/Swiss-Prot

Q8TC44

Related

ENSP00000447916.1, ENST00000549035.1

Conserved Domains (3) summary

COG2319
Location:13 → 258

WD40; WD40 repeat [General function prediction only]

cd00200
Location:2 → 256

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:21 → 58

7WD40; WD40 repeat [structural motif]
NM_001425771.1 → NP_001412700.1 POC1 centriolar protein homolog B isoform c

Status: REVIEWED

Source sequence(s)

AC010201, AC025034
NM_001425772.1 → NP_001412701.1 POC1 centriolar protein homolog B isoform d

Status: REVIEWED

Source sequence(s)

AC010201, AC025034
NM_001425773.1 → NP_001412702.1 POC1 centriolar protein homolog B isoform e

Status: REVIEWED

Source sequence(s)

AC010201, AC025034

UniProtKB/TrEMBL

B4DIH4
NM_172240.3 → NP_758440.1 POC1 centriolar protein homolog B isoform a

See identical proteins and their annotated locations for NP_758440.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AK027829, AW149266, BC026080, DC354425

Consensus CDS

CCDS31869.1

UniProtKB/Swiss-Prot

G3V1X0, Q8TC44

UniProtKB/TrEMBL

A0MNP0

Related

ENSP00000323302.3, ENST00000313546.8

Conserved Domains (2) summary

cd00200
Location:10 → 298

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:63 → 100

7WD40; WD40 repeat [structural motif]

RNA

NR_037659.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal exon in the 5' region, but includes an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK027829, AK295596, AW149266, BU521431, DC354425
NR_037660.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are expected to inhibit translation of the longest ORF; translation of an upstream ORF would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB053266, AK027829, AW149266, BU521431, DA851891

Related

ENST00000393179.8