• Gene id: 553115

Gene Summary

• Gene Symbol: PEF1   Gene   UCSC   Ensembl
• Aliases: ABP32, PEF1A
• Gene name: penta-EF-hand domain containing 1
• Alternate names: peflin, PEF protein with a long N-terminal hydrophobic domain, epididymis secretory sperm binding protein,
• Gene location: 1p35.2 (31644875: 31629861)     Exons: 7     NC_000001.11
• Gene summary(Entrez): This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternativ
• OMIM: 618082

Protein Summary

• Protein general information: Q9UBV8  
  • Name: Peflin (PEF protein with a long N terminal hydrophobic domain) (Penta EF hand domain containing protein 1)
  • Length: 284  
  • Mass: 30381
• Sequence:

  MASYPYRQGCPGAAGQAPGAPPGSYYPGPPNSGGQYGSGLPPGGGYGGPAPGGPYGPPAGGGPYGHPNPGMFPSG
  TPGGPYGGAAPGGPYGQPPPSSYGAQQPGLYGQGGAPPNVDPEAYSWFQSVDSDHSGYISMKELKQALVNCNWSS
  FNDETCLMMINMFDKTKSGRIDVYGFSALWKFIQQWKNLFQQYDRDRSGSISYTELQQALSQMGYNLSPQFTQLL
  VSRYCPRSANPAMQLDRFIQVCTQLQVLTEAFREKDTAVQGNIRLSFEDFVTMTASRML

• Structural information:
  • Protein Domains: (114..14-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (155..18-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (181..21-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • STRING: ENSP00000362807
• Other Databases: GeneCards:  PEF1  Malacards:  PEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048208	COPII vesicle coating	IBA	biological process
GO:0030127	COPII vesicle coat	IDA	cellular component
GO:0014032	neural crest cell development	IMP	biological process
GO:0048208	COPII vesicle coating	IMP	biological process
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0014029	neural crest formation	IMP	biological process
GO:1902527	positive regulation of protein monoubiquitination	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1990756	ubiquitin ligase-substrate adaptor activity	IMP	molecular function
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051592	response to calcium ion	IPI	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq