• Gene id: 83449

Gene Summary

• Gene Symbol: PMFBP1   Gene   UCSC   Ensembl
• Aliases: SPGF31, STAP
• Gene name: polyamine modulated factor 1 binding protein 1
• Alternate names: polyamine-modulated factor 1-binding protein 1, PMF-1 binding protein,
• Gene location: 16q22.2 (72173907: 72116696)     Exons: 27     NC_000016.10
• OMIM: 618085

Protein Summary

• Protein general information: Q8TBY8  
  • Name: Polyamine modulated factor 1 binding protein 1 (PMF 1 binding protein)
  • Length: 1007  
  • Mass: 117494
• Sequence:

  MKDEAGERDREVSSLNSKLLSLQLDIKNLHDVCKRQRKTLQDNQLCMEEAMNSSHDKKQAQALAFEESEVEFGSS
  KQCHLRQLQQLKKKLLVLQQELEFHTEELQTSYYSLRQYQSILEKQTSDLVLLHHHCKLKEDEVILYEEEMGNHN
  ENTGEKLHLAQEQLALAGDKIASLERSLNLYRDKYQSSLSNIELLECQVKMLQGELGGIMGQEPENKGDHSKVRI
  YTSPCMIQEHQETQKRLSEVWQKVSQQDDLIQELRNKLACSNALVLEREKALIKLQADFASCTATHRYPPSSSEE
  CEDIKKILKHLQEQKDSQCLHVEEYQNLVKDLRVELEAVSEQKRNIMKDMMKLELDLHGLREETSAHIERKDKDI
  TILQCRLQELQLEFTETQKLTLKKDKFLQEKDEMLQELEKKLTQVQNSLLKKEKELEKQQCMATELEMTVKEAKQ
  DKSKEAECKALQAEVQKLKNSLEEAKQQERLAAQQAAQCKEEAALAGCHLEDTQRKLQKGLLLDKQKADTIQELQ
  RELQMLQKESSMAEKEQTSNRKRVEELSLELSEALRKLENSDKEKRQLQKTVAEQDMKMNDMLDRIKHQHREQGS
  IKCKLEEDLQEATKLLEDKREQLKKSKEHEKLMEGELEALRQEFKKKDKTLKENSRKLEEENENLRAELQCCSTQ
  LESSLNKYNTSQQVIQDLNKEIALQKESLMSLQAQLDKALQKEKHYLQTTITKEAYDALSRKSAACQDDLTQALE
  KLNHVTSETKSLQQSLTQTQEKKAQLEEEIIAYEERMKKLNTELRKLRGFHQESELEVHAFDKKLEEMSCQVLQW
  QKQHQNDLKMLAAKEEQLREFQEEMAALKENLLEDDKEPCCLPQWSVPKDTCRLYRGNDQIMTNLEQWAKQQKVA
  NEKLGNQLREQVKYIAKLSGEKDHLHSVMVHLQQENKKLKKEIEEKKMKAENTRLCTKALGPSRTESTQREKVCG
  TLGWKGLPQDMGQRMDLTKYIGMPHCPGSSYC

• Structural information:
  • Interpro: IPR037391  
  • STRING: ENSP00000237353
• Other Databases: GeneCards:  PMFBP1  Malacards:  PMFBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097224	sperm connecting piece	IDA	cellular component
GO:0007283	spermatogenesis	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097224	sperm connecting piece	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Acephalic spermatozoa syndrome	MIK: 30032984
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30032984	Acephalic spermatozoa syndrome	[c.1462C>T (p.Gln488?)], [c.2404C>T (p.Gln802?)], [c.2725C>T (p.Arg909?)], [c.2725C>T (p.Arg909?)], [c.2092delG (p.Ala698Profs?7)]		112(100 controls, 12 male infertility)	Male infertility	NGS
30298696	Acephalic spermatozoa	c.2561_2562del:p.K854Rfs*5 and c.327 T > A:p.Y109X	Chinese	2 with acephalic spermatozoa	Male infertility	NGS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray