SLC35A1

Protein name: CST Aliases: CMPST Substrates: CMP-sialic acid Transport type: Exchanger / CMP Tissue and cellular expression: ubiquitous Subcellular expression: Golgi Disease: congenital disorder of glycosylation IIf Locus: 6q15 Sequence ID: NP_001161870.1, NM_001168398.1 NP_006407.1, NM_006416.4 Gene ID: 10559 Splice variants: N/D

S35A1_HUMAN (UniProt)

Gene names: SLC35A1
Protein names and data: S35A1_HUMAN, Full=CMP-sialic acid transporter;Short=CMP-SA-Tr;Short=CMP-Sia-Tr, Full=Solute carrier family 35 member A1; Length: 337 a.a., Mass: 36779 Da,
fasta formatted sequence
Function: Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function
Disease: (OMIM: 603585 605634) Defects in SLC35A1 are the cause of congenital disorder of glycosylation type 2F (CDG2F) [MIM:603585]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions
Cellular location: Golgi apparatus membrane; Multi-pass membrane protein

Database cross-references

UniProt: P78382
NextBio: 40073
OMIM: 603585 605634
Ensembl: ENST00000369556
GeneCard: GC06P087470
TCDB: 2.A.7.12.11
PharmGenUCSF: SLC35A1
Guide to Pharmacology: SLC35A1 (1138)
SLC35 family of nucleotide sugar transporters (1138)
HGNC: HGNC:11021

Genetic variants

See also Ensembl:ENST00000369556

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