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POF1B premature ovarian failure, 1B [ Homo sapiens (human) ]

Gene ID: 79983, updated on 8-May-2016
Official Symbol
POF1Bprovided by HGNC
Official Full Name
premature ovarian failure, 1Bprovided by HGNC
Primary source
HGNC:HGNC:13711
See related
Ensembl:ENSG00000124429 HPRD:06679; MIM:300603; Vega:OTTHUMG00000021934
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]
Orthologs
Location:
Xq21.2
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (85276894..85379743, 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 uncharacterized LOC105369163 Neighboring gene uncharacterized LOC101928128 Neighboring gene zinc finger protein 711 Neighboring gene microRNA 1321 Neighboring gene SFR1 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22792

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
desmosome IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein POF1B
Names
premature ovarian failure protein 1B

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
    5001..107354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001307940.1NP_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
    Conserved Domains (1) summary
    TIGR02169
    Location:275531
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  2. NM_024921.3NP_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, OTTHUMP00000023625, ENST00000262753, OTTHUMT00000057391
    Conserved Domains (1) summary
    TIGR02169
    Location:275531
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    85276894..85379743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262203.2XP_005262260.1  

    Conserved Domains (1) summary
    TIGR02169
    Location:260516
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  2. XM_005262202.1XP_005262259.1  

    Related
    ENSP00000362238, OTTHUMP00000023626, ENST00000373145, OTTHUMT00000057392
    Conserved Domains (1) summary
    TIGR02169
    Location:275531
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    84426026..84528381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)