• Gene id: 9685

Gene Summary

• Gene Symbol: CLINT1   Gene   UCSC   Ensembl
• Aliases: CLINT, ENTH, EPN4, EPNR
• Gene name: clathrin interactor 1
• Alternate names: clathrin interactor 1, clathrin interacting protein localized in the trans-Golgi region, enthoprotin, epsin 4, epsin-related protein, epsinR,
• Gene location: 5q33.3 (157859144: 157785746)     Exons: 13     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated ve
• OMIM: 607265

Protein Summary

• Protein general information: Q14677  
  • Name: Clathrin interactor 1 (Clathrin interacting protein localized in the trans Golgi region) (Clint) (Enthoprotin) (Epsin 4) (Epsin related protein) (EpsinR)
  • Length: 625  
  • Mass: 68259
  • Tissue specificity: Ubiquitously expressed at low to intermediate levels. {ECO
• Sequence:

  MLNMWKVRELVDKATNVVMNYSEIESKVREATNDDPWGPSGQLMGEIAKATFMYEQFPELMNMLWSRMLKDNKKN
  WRRVYKSLLLLAYLIRNGSERVVTSAREHIYDLRSLENYHFVDEHGKDQGINIRQKVKELVEFAQDDDRLREERK
  KAKKNKDKYVGVSSDSVGGFRYSERYDPEPKSKWDEEWDKNKSAFPFSDKLGELSDKIGSTIDDTISKFRRKDRE
  DSPERCSDSDEEKKARRGRSPKGEFKDEEETVTTKHIHITQATETTTTRHKRTANPSKTIDLGAAAHYTGDKASP
  DQNASTHTPQSSVKTSVPSSKSSGDLVDLFDGTSQSTGGSADLFGGFADFGSAAASGSFPSQVTATSGNGDFGDW
  SAFNQAPSGPVASSGEFFGSASQPAVELVSGSQSALGPPPAASNSSDLFDLMGSSQATMTSSQSMNFSMMSTNTV
  GLGLPMSRSQNTDMVQKSVSKTLPSTWSDPSVNISLDNLLPGMQPSKPQQPSLNTMIQQQNMQQPMNVMTQSFGA
  VNLSSPSNMLPVRPQTNALIGGPMPMSMPNVMTGTMGMAPLGNTPMMNQSMMGMNMNIGMSAAGMGLTGTMGMGM
  PNIAMTSGTVQPKQDAFANFANFSK

• Structural information:
  • Protein Domains: (16..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243"-)
  • Interpro: IPR030544  IPR013809  IPR008942  
  • Prosite: PS50942
  • PDB: 1XGW 2QY7 2V8S
  • PDBsum: 1XGW 2QY7 2V8S
  • DIP: 45604
  • STRING: ENSP00000429824
• Other Databases: GeneCards:  CLINT1  Malacards:  CLINT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0030125	clathrin vesicle coat	IBA	cellular component
GO:0005768	endosome	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0006897	endocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
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:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0048268	clathrin coat assembly	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030276	clathrin binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
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)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881