• Gene id: 79983

Gene Summary

• Gene Symbol: POF1B   Gene   UCSC   Ensembl
• Aliases: POF, POF2B
• Gene name: POF1B actin binding protein
• Alternate names: protein POF1B, premature ovarian failure protein 1B, premature ovarian failure, 1B,
• Gene location: Xq21.1 (85379708: 85277395)     Exons: 17     NC_000023.11
• Gene summary(Entrez): 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 exte
• OMIM: 300603

Protein Summary

• Protein general information: Q8WVV4  
  • Name: Protein POF1B (Premature ovarian failure protein 1B)
  • Length: 589  
  • Mass: 68065
• Sequence:

  MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMNKVVQALDPFNSREVL
  SPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQELHSPTVKLTTYPQTTIRKYVVQNPEQEPLS
  QFLRGSHFFPGNNVIYEKTIRKVEKLNTDQGCHPQAQCHHHIIQQPQVIHSAHWQQPDSSQQIQAITGNNPISTH
  IGNELCHSGSSQICEQVIIQDDGPEKLDPRYFGELLADLSRKNTDLYHCLLEHLQRIGGSKQDFESTDESEDIES
  LIPKGLSEFTKQQIRYILQMRGMSDKSLRLVLSTFSNIREELGHLQNDMTSLENDKMRLEKDLSFKDTQLKEYEE
  LLASVRANNHQQQQGLQDSSSKCQALEENNLSLRHTLSDMEYRLKELEYCKRNLEQENQNLRMQVSETCTGPMLQ
  AKMDEIGNHYTEMVKNLRMEKDREICRLRSQLNQYHKDVSKREGSCSDFQFKLHELTSLLEEKDSLIKRQSEELS
  KLRQEIYSSHNQPSTGGRTTITTKKYRTQYPILGLLYDDYEYIPPGSETQTIVIEKTEDKYTCP

• Structural information:
  • Interpro: IPR026186  
  • PDB: 3BH9
  • PDBsum: 3BH9
  • STRING: ENSP00000262753
• Other Databases: GeneCards:  POF1B  Malacards:  POF1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0030057	desmosome	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005884	actin filament	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0003382	epithelial cell morphogenesis	IMP	biological process
GO:0051015	actin filament binding	IMP	molecular function
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0030036	actin cytoskeleton organization	IMP	biological process

Diseases

Associated diseases	References
Premature ovarian failure	KEGG:H00627
Premature ovarian failure	KEGG:H00627
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)