• Gene id: 79674

Gene Summary

• Gene Symbol: VEPH1   Gene   UCSC   Ensembl
• Aliases: MELT, VEPH
• Gene name: ventricular zone expressed PH domain containing 1
• Alternate names: ventricular zone-expressed PH domain-containing protein homolog 1, protein melted, ventricular zone expressed PH domain homolog 1,
• Gene location: 3q25.31-q25.32 (157503776: 157259741)     Exons: 19     NC_000003.12
• OMIM: 186960

Protein Summary

• Protein general information: Q14D04  
  • Name: Ventricular zone expressed PH domain containing protein homolog 1 (Protein melted)
  • Length: 833  
  • Mass: 94745
• Sequence:

  MHQLFRLVLGQKDLSRAGDLFSLDDSEIEDSLTEALEQIKIISSSSDYQTNNNDQAVVEICITRITTAIRETESI
  EKHAKALVGLWDSCLEHNLRPFGKDEDTPHAKIASDIMSCILQNYNRPPVMALAIPIAVKFLHRGNKELCRNMSN
  YLSLAAITKADLLADHTEVIVKSILQGNTMLLRVLPAVYEKQPQPINRHLTELLALMSQLEQPEQYHLLRLLHVA
  AKKKQLEVVQKCIPFLIGHLKDSTHNDIILNILIEIAVYEPVALNSFLPMLKEIGERFPYLTGQMARIYGAVGHV
  DEERARSCLTYLVSQLANMEHSFHHILLLEIKSITDTFSSILGPQSRDIFRMSNSFTAIAKLLTRQLENTKAGSG
  RRKISTEIEFPEKLEETKLIVTENEDHEKLQVKIQAFEDKINAGSNTPGSIRRYSLGQVSKEERKNIRFNRSKSL
  AFHTMLTKGVGSDDGEDENRGDIPASISLSEIDPLGQGNDKLPFKTDTERSQLGESSVSYPNIIHIDSENLSETV
  KENSQEETPETTASPIEYQDKLYLHLKKNLSKVKAYAMEIGKKIPVPDQCTIEDTVRSCVAKLFFTCSLKGHYCL
  YSKSSFILISQEPQPWIQIMFLFQQSLFPEPLSIQSHSVQFLRALWEKTQAGGAHSFETAMMESTFPQQKDLDQV
  QLHLEEVRFFDVFGFSETAGAWQCFMCNNPEKATVVNQDGQPLIEGKLKEKQVRWKFIKRWKTRYFTLAGNQLLF
  QKGKSKDDPDDCPIELSKVQSVKAVAKKRRDRSLPRAFEIFTDNKTYVFKAKDEKNAEEWLQCINVAVAQAKERE
  SREVTTYL

• Structural information:
  • Protein Domains: (716..81-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR016024  IPR039888  IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000354919
• Other Databases: GeneCards:  VEPH1  Malacards:  VEPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010314	phosphatidylinositol-5-phosphate binding	IBA	molecular function
GO:0009966	regulation of signal transduction	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0060392	negative regulation of SMAD protein signal transduction	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0010314	phosphatidylinositol-5-phosphate binding	IBA	molecular function
GO:0009966	regulation of signal transduction	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0060392	negative regulation of SMAD protein signal transduction	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq