SCFD1 is a 642 amino acid protein that belongs to the STXBP/unc-18/SEC1 family. Phosphorylated upon DNA damage, probably by Atm or ATR, SCFD1 is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi. The SCFD1 protein plays a role in SNARE-pin assembly and Golgi to ER retrograde transport via its interaction with COG4. The SCFD1 protein also binds Syntaxin 5. The SCFD1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, mosquito, Drosophila, C.elegans, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, N.crassa, A.thaliana and rice, and maps to human chromosome 14q12. Deletion of a region of chromosome 14 that contains SF-1, PKC ? SCFD1, Cochlin and SG2NA genes, is responsible for a condition resulting in severe mental retardation, epilepsy, microcephaly and Rett-like features.
Function:
Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi.
Subcellular Location:
Cytoplasm. Endoplasmic reticulum membrane. Golgi apparatus > Golgi stack membrane.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Belongs to the STXBP/unc-18/SEC1 family.
SWISS:
Q8WVM8
Gene ID:
23256
Database links:
Entrez Gene: 100140328 Cow
Entrez Gene: 96281 Dog
Entrez Gene: 23256 Human
Entrez Gene: 76983 Mouse
Entrez Gene: 54350 Rat
SwissProt: Q8WVM8 Human
SwissProt: Q8BRF7 Mouse
SwissProt: Q62991 Rat
Unigene: 369168 Human
Unigene: 216511 Mouse
Unigene: 10761 Rat
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