Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9267
Gene name Gene Name - the full gene name approved by the HGNC.
Cytohesin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYTH1
Synonyms (NCBI Gene) Gene synonyms aliases
B2-1, CYTOHESIN-1, D17S811E, PSCD1, SEC7
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016372 hsa-miR-193b-3p Microarray 20304954
MIRT017284 hsa-miR-335-5p Microarray 18185580
MIRT029189 hsa-miR-26b-5p Microarray 19088304
MIRT047342 hsa-miR-34a-5p CLASH 23622248
MIRT486034 hsa-miR-3940-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10652308
GO:0005515 Function Protein binding IPI 11867758, 28514442, 29420262, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 12606567
GO:0005829 Component Cytosol ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182115 9501 ENSG00000108669
Protein
UniProt ID Q15438
Protein name Cytohesin-1 (PH, SEC7 and coiled-coil domain-containing protein 1) (SEC7 homolog B2-1)
Protein function Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, t
PDB 1BC9 , 4A4P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7 62 244 Sec7 domain Domain
PF00169 PH 261 377 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phospholipase D signaling pathway
Endocytosis
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
  Intra-Golgi traffic
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
29892015, 30061737
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 29892015 ClinVar
Diabetes Diabetes GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Ulcerative colitis Ulcerative colitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Connective Tissue Diseases Associate 22208759
Genetic Diseases Inborn Associate 22208759
Heredodegenerative Disorders Nervous System Associate 22208759
Leukemia Myelogenous Chronic BCR ABL Positive Associate 27713165
Lymphoma Large Cell Anaplastic Associate 12181047
Myotonia with Skeletal Abnormalities and Mental Retardation Associate 22208759
Polyradiculoneuropathy Chronic Inflammatory Demyelinating Associate 33408168
Prostatic Neoplasms Associate 21670894