• Gene id: 63943

Gene Summary

• Gene Symbol: FKBPL   Gene   UCSC   Ensembl
• Aliases: DIR1, FKBP4, NG7, WISP39
• Gene name: FK506 binding protein like
• Alternate names: FK506-binding protein-like, WAF-1/CIP1 stabilizing protein 39, peptidyl-prolyl cis-trans isomerase,
• Gene location: 6p21.32 (32130289: 32128706)     Exons: 2     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in th
• OMIM: 617076

SNPs

rs200847762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32129371G>A
NC_000006.11   g.32097148G>A
NG_033940.1   g.3870C>T
NT_113891.3   g.3567702G>A
NT_113891.2   g.3567808G>A
NT_167247.2   g.3471391G>A
NT_167247.1   g.3476976G>A
NT_167245.2   g.3370735G>A
NT_167245.1   g.3376320G>A
NM_022110.4   c.410C>T
NM_  

Protein Summary

• Protein general information: Q9UIM3  
  • Name: FK506 binding protein like (WAF 1/CIP1 stabilizing protein 39) (WISp39)
  • Length: 349  
  • Mass: 38,176
  • Tissue specificity: Testis-specific in fetus (aged from 6 to 11 weeks). In adult, expressed predominantly in testis, with some expression in lung, heart, kidney, adrenal gland and whole brain (PubMed
• Sequence:

  METPPVNTIGEKDTSQPQQEWEKNLRENLDSVIQIRQQPRDPPTETLELEVSPDPASQILEHTQGAEKLVAELEG
  DSHKSHGSTSQMPEALQASDLWYCPDGSFVKKIVIRGHGLDKPKLGSCCRVLALGFPFGSGPPEGWTELTMGVGP
  WREETWGELIEKCLESMCQGEEAELQLPGHSGPPVRLTLASFTQGRDSWELETSEKEALAREERARGTELFRAGN
  PEGAARCYGRALRLLLTLPPPGPPERTVLHANLAACQLLLGQPQLAAQSCDRVLEREPGHLKALYRRGVAQAALG
  NLEKATADLKKVLAIDPKNRAAQEELGKVVIQGKNQDAGLAQGLRKMFG

• Structural information:
  • Interpro: IPR023566  IPR013026  IPR011990  IPR001440  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000364298
• Other Databases: GeneCards:  FKBPL  Malacards:  FKBPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009314	response to radiation	NAS	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009314	response to radiation	NAS	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009314	response to radiation	NAS	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0061077	chaperone-mediated protein folding	IBA	biological process

Diseases

Associated diseases	References
Systemic lupus erythematosus (SLE)	GAD: 19851445
Male factor infertility	MIK: 20210997
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 20210997
Non-obstructive azoospermia	MIK: 26199320

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20210997	Male infertility		Japanes e	116 (60 infertile patients, 56 controls)	Male infertility
26199320	Non-obstructive azoospermia	rs200847762 (p.Pro137Leu)	Han Chi nese	9726 (3130 cases, 6596 controls)	Male infertility	NGS
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881