• Gene id: 150350

Gene Summary

• Gene Symbol: ENTHD1   Gene   UCSC   Ensembl
• Aliases: CACNA1I, dJ370M22.3
• Gene name: ENTH domain containing 1
• Alternate names: ENTH domain-containing protein 1, dJ370M22.3 (EPSIN 2B), epsin-2B,
• Gene location: 22q13.1 (39893883: 39743043)     Exons: 11     NC_000022.11

Protein Summary

• Protein general information: Q8IYW4  
  • Name: ENTH domain containing protein 1 (Epsin 2B)
  • Length: 607  
  • Mass: 67538
• Sequence:

  MAFRRQVKNFVKNYSDAEIKVREATSNDPWGPSSSLMLDISDLTFNTISLSEIMNMLWHRLNDHGKNWRHVYKSL
  TLMDYLIKNGSKKVIQHCREGFCNLQTLKDFQHIDEAGKDQGYYIREKSKQVITLLMDEPLLCKEREVACRTRQR
  TSHSILFSKRQLGSSNSLTACTSAPTPDISASEKKYKLPKFGRLHNKRNVCKAGLKQEHCQDVHLPTETMLSQET
  LPLKIHGWKSTEDLMTFLDDDPELPLLATPPSIVSPITCLSEAEEVCNLSGADAVPTLSENSPSGQRDVSLDKRS
  DGIFTNTVTENLLETPLEKQSAAEGLKTLTILPACWSSKEEFISPDLRVSKSDSTFHNQASVETLCLSPSFKIFD
  RVKEIVINKAYQKPAQSSIQMDDKILKTTTRVSTASEGASSFSPLSMSSPDLASPEKSAHLLSPILAGPSFWTLS
  HQQLSSTSFKDEDKTAKLHHSFASRGPVSSDVEENDSLNLLGILPNNSDSAKKNISHISSSHWGEFSTQNVDQFI
  PLSCSGFQSTKDFPQEPEAKNSISVLLREVKRAIARLHEDLSTVIQELNVINNILMSMSLNSSQISQSSQVPQSS
  EGSSDQI

• Structural information:
  • Protein Domains: (9..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243"-)
  • Interpro: IPR013809  IPR008942  
  • Prosite: PS50942
  • STRING: ENSP00000317431
• Other Databases: GeneCards:  ENTHD1  Malacards:  ENTHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0030276	clathrin binding	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0030125	clathrin vesicle coat	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq