CYTH1: Cytohesin 1
A guanine nucleotide exchange factor (GEF) for ADP-ribosylation factor (ARF) GTPases, involved in integrin signaling and vesicle trafficking.
Gene Information Card
| Symbol | CYTH1 |
|---|---|
| Full Name | Cytohesin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 9267 ncbi.nlm.nih.gov/gene/9267 |
| Ensembl ID | ENSG00000108798 |
| UniProt ID | Q15438 |
| OMIM ID | 605232 |
| HGNC ID | 9501 |
| Aliases | PSCD1, B2-1, cytohesin-1, ARF nucleotide-binding site opener 1 |
Description
CYTH1 (cytohesin 1) encodes a member of the cytohesin family of guanine nucleotide exchange factors (GEFs) that specifically activate ADP-ribosylation factor (ARF) GTPases. The protein plays a critical role in integrin-mediated cell adhesion, cytoskeletal reorganization, and intracellular vesicle trafficking. CYTH1 is ubiquitously expressed with highest levels in hematopoietic tissues and is involved in immune cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency (potential) | Dysregulation of ARF GTPase activation affecting integrin signaling and immune cell adhesion | Inferred from functional studies (UniProt, NCBI) |
| Cancer (various) | Altered CYTH1 expression may contribute to tumor progression via effects on cell adhesion and migration | COSMIC mutation data; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Lung | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical cancer) | 8.7 | Moderate expression |
| HepG2 (liver cancer) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ARF guanyl-nucleotide exchange factor activity (GO:0005086) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
| • cell differentiation (GO:0030154) | • regulation of Rho protein signal transduction (GO:0035023) |
Pathways
• ARF GTPase cycle (Reactome: R-HSA-9007101)
• Integrin signaling (Reactome: R-HSA-354192)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
Cytohesin 1 (CYTH1) is a 398-amino acid protein containing a Sec7 domain responsible for GEF activity toward ARF GTPases, a pleckstrin homology (PH) domain for membrane localization, and a C-terminal coiled-coil region. It regulates integrin β2 (CD18) activation in leukocytes, thereby influencing cell adhesion and migration. The protein is also implicated in endocytosis and exocytosis processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYTH1 Knockout HEK293 Cell Line | EDJ-KQ1725 | Human | 9267 | Details Get a Quote |
| CYTH1 Knockout A-549 Cell Line | EDJ-KQ21561 | Human | 9267 | Details Get a Quote |
| CYTH1 Knockout HCT 116 Cell Line | EDJ-KQ21562 | Human | 9267 | Details Get a Quote |
| CYTH1 Knockout HeLa Cell Line | EDJ-KQ21563 | Human | 9267 | Details Get a Quote |
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