• Gene id: 9267

Gene Summary

• Gene Symbol: CYTH1   Gene   UCSC   Ensembl
• Aliases: B2-1, CYTOHESIN-1, D17S811E, PSCD1, SEC7
• Gene name: cytohesin 1
• Alternate names: cytohesin-1, PH, SEC7 and coiled-coil domain-containing protein 1, SEC7 homolog B2-1, cytoadhesin 1, homolog of secretory protein SEC7, pleckstrin homology, Sec7 and coiled-coil domains 1,
• Gene location: 17q25.3 (78782341: 78674046)     Exons: 19     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The c
• OMIM: 186730

Protein Summary

• Protein general information: Q15438  
  • Name: Cytohesin 1 (PH, SEC7 and coiled coil domain containing protein 1) (SEC7 homolog B2 1)
  • Length: 398  
  • Mass: 46413
  • Tissue specificity: Ubiquitous.
• Sequence:

  MEEDDSYVPSDLTAEERQELENIRRRKQELLADIQRLKDEIAEVANEIENLGSTEERKNMQRNKQVAMGRKKFNM
  DPKKGIQFLIENDLLKNTCEDIAQFLYKGEGLNKTAIGDYLGERDEFNIQVLHAFVELHEFTDLNLVQALRQFLW
  SFRLPGEAQKIDRMMEAFAQRYCQCNNGVFQSTDTCYVLSFAIIMLNTSLHNPNVKDKPTVERFIAMNRGINDGG
  DLPEELLRNLYESIKNEPFKIPEDDGNDLTHTFFNPDREGWLLKLGGGRVKTWKRRWFILTDNCLYYFEYTTDKE
  PRGIIPLENLSIREVEDSKKPNCFELYIPDNKDQVIKACKTEADGRVVEGNHTVYRISAPTPEEKEEWIKCIKAA
  ISRDPFYEMLAARKKKVSSTKRH

• Structural information:
  • Protein Domains: (73..20-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (260..37-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR023394  IPR000904  IPR035999  
  • Prosite: PS50003 PS50190
  • CDD: cd00171
  • PDB: 1BC9 4A4P
  • PDBsum: 1BC9 4A4P
  • STRING: ENSP00000354398
• Other Databases: GeneCards:  CYTH1  Malacards:  CYTH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0090162	establishment of epithelial cell polarity	ISS	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0030155	regulation of cell adhesion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
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: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:0005829	cytosol	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04072	Phospholipase D signaling pathway

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