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

Gene ID: 79983, updated on 5-Jul-2020

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
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

Genomic context

See POF1B in Genome Data Viewer
Location:
Xq21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (85277396..85379709, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (84532395..84634748, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene spermidine/spermine N1-acetyl transferase like 1 Neighboring gene uncharacterized LOC101928128 Neighboring gene zinc finger protein 711 Neighboring gene microRNA 1321 Neighboring gene SFR1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22792

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
desmosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein POF1B
Names
premature ovarian failure protein 1B
premature ovarian failure, 1B

NCBI Reference Sequences (RefSeq)

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

  1. NG_016358.1 RefSeqGene

    Range
    5079..107347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001307940.2NP_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:353438
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  2. NM_024921.4NP_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
    Q8WVV4
    Related
    ENSP00000262753.4, ENST00000262753.9
    Conserved Domains (1) summary
    pfam15898
    Location:353438
    PRKG1_interact; cGMP-dependent protein kinase interacting domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    85277396..85379709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262203.4XP_005262260.1  protein POF1B isoform X1

    Conserved Domains (1) summary
    pfam15898
    Location:338423
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
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