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This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
CYTH4 (Cytohesin 4) is a Protein Coding gene. Diseases associated with CYTH4 include Septooptic Dysplasia. Among its related pathways are Intra-Golgi traffic and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include lipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is CYTH3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IEA,IDA | 10652308 |
GO:0005515 | protein binding | IPI | 31515488 |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA,IDA | 17398095 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Endocytosis | ||
3 | Pathogenic Escherichia coli infection | ||
4 | Phospholipase D signaling pathway | ||
5 | Salmonella infection (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032012 | regulation of ARF protein signal transduction | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - |
ExUns: | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | - | ||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYTH4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYTH4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CYTH4 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Cyth4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cyth4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CYTH4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CYTH4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYTH4 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | cyth4b 30 31 |
|
OneToMany | |
cyth4a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | step 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | grp-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEC7 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8851 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
734144 | Benign: not provided | 37,297,591(+) | C/T | SYNONYMOUS_VARIANT | |
734145 | Benign: not provided | 37,297,648(+) | A/C | MISSENSE_VARIANT | |
781618 | Benign: not provided | 37,296,051(+) | A/G | MISSENSE_VARIANT | |
rs16998061 | - | p.Met74Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
septooptic dysplasia |
|
|