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

    Gene ID: 79983, updated on 10-Dec-2024

    Summary

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    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

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    See POF1B in Genome Data Viewer
    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_000023.11Genomic 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:84682018-84682570 Neighboring gene microRNA 1321 Neighboring gene SFR1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel POF1B variant in a Chinese patient is associated with premature ovarian failure. Yuan ZZ, et al. Clin Genet, 2021 Dec. PMID 34423420
    2. FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure. Riva P, et al. Clin Genet, 1996 Oct. PMID 9001815
    3. POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines. Crespi A, et al. J Invest Dermatol, 2015 Jan. PMID 25084053
    4. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Lacombe A, et al. Am J Hum Genet, 2006 Jul. PMID 16773570, Free PMC Article
    5. Spatial and temporal expression of POF1B, a gene expressed in epithelia. Rizzolio F, et al. Gene Expr Patterns, 2007 Feb. PMID 17123869

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. The POF1B candidate gene for premature ovarian failure regulates epithelial polarity
      Title: The POF1B candidate gene for premature ovarian failure regulates epithelial polarity.
    4. 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.
    5. 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.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • FLJ22792

    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

    1. NG_016358.2 RefSeqGene

      Range
      5000..107269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      85277396..85379665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      83705917..83808182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327915.1 → XP_054183890.1  protein POF1B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVV4.3 GenPept UniProtKB/Swiss-Prot:Q8WVV4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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