POF1B POF1B actin binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: POF1Bprovided by HGNC
Official Full Name: POF1B actin binding proteinprovided by HGNC
Primary source: HGNC:HGNC:13711
See related: Ensembl:ENSG00000124429 MIM:300603; AllianceGenome:HGNC:13711
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: POF; POF2B
Summary: Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]
Expression: Biased expression in skin (RPKM 60.6), colon (RPKM 34.9) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (85277396..85379665, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (83705917..83808182, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (84532402..84634670, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
Title: A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
POF1B was restricted to granular layers in human healthy epidermis, whereas it largely increased in hyperproliferative human skin diseases, thus demonstrating the localization of POF1B also in desmosomes of multistratified epithelia.
Title: POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines.
The POF1B candidate gene for premature ovarian failure regulates epithelial polarity
Title: The POF1B candidate gene for premature ovarian failure regulates epithelial polarity.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
Our findings could not demonstrate any involvement of POF1B in premature ovarian failure
Title: Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

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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
Premature ovarian failure 2B MedGen: C1845105 OMIM: 300604 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

AL022445 (e-PCR)
- UniSTS:46852

DXS7672 (e-PCR)
- UniSTS:63394

POF1B__5741 (e-PCR)
- UniSTS:463811

DXS7604 (e-PCR)
- UniSTS:70609

G65252 (e-PCR)
- UniSTS:166364

G65264 (e-PCR)
- UniSTS:166365

G65257 (e-PCR)
- UniSTS:166366

G65265 (e-PCR)
- UniSTS:166367

G65256 (e-PCR)
- UniSTS:166368

G65266 (e-PCR)
- UniSTS:166369

G65271 (e-PCR)
- UniSTS:166370

G65225 (e-PCR)
- UniSTS:166371

G65275 (e-PCR)
- UniSTS:166372

G65255 (e-PCR)
- UniSTS:166373

G65268 (e-PCR)
- UniSTS:166374

G65259 (e-PCR)
- UniSTS:166375

G65260 (e-PCR)
- UniSTS:166376

G65226 (e-PCR)
- UniSTS:166377

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein POF1B

Names: premature ovarian failure protein 1B; premature ovarian failure, 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_016358.2 RefSeqGene

Range

5000..107269

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001307940.2 → NP_001294869.1 protein POF1B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate 3' exon and its 3' terminal exon extends past a splice site that is used in variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.

Source sequence(s)

AF309774, AK128541, BC017500

Consensus CDS

CCDS78497.1

UniProtKB/Swiss-Prot

Q8WVV4

Related

ENSP00000362238.3, ENST00000373145.3

Conserved Domains (1) summary

pfam15898
Location:353 → 438

PRKG1_interact; cGMP-dependent protein kinase interacting domain
NM_024921.4 → NP_079197.3 protein POF1B isoform 1

See identical proteins and their annotated locations for NP_079197.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AF309774, AI591162, AK290360

Consensus CDS

CCDS14452.1

UniProtKB/Swiss-Prot

A8K2U5, Q5H9E9, Q5H9F0, Q8NG12, Q8WVV4, Q9H5Y2, Q9H738, Q9H744

Related

ENSP00000262753.4, ENST00000262753.9

Conserved Domains (1) summary

pfam15898
Location:353 → 438

PRKG1_interact; cGMP-dependent protein kinase interacting domain

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

85277396..85379665 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005262203.5 → XP_005262260.1 protein POF1B isoform X1

Conserved Domains (1) summary

pfam15898
Location:338 → 423

PRKG1_interact; cGMP-dependent protein kinase interacting domain