SLC35A1
entrez
10559
canonical
uniprot
P78382
canonical
ensembl
ENSG00000164414
resolver
ensp
ENSP00000358565
resolver
ensp
ENSP00000358569
resolver
genesymbol
SLC35A1
resolver
hgnc
HGNC:11021
resolver
uniprot
Q5W1L8
resolver
uniprot_entry
S35A1_HUMAN
resolver
uniprot_sec
Q5W1L8
resolver
amino_acid_sequence
MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMAFLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAGVYFEKVLKSSDTSLWVRNIQMYLSGIIVTLAGVYLSDGAEIKEKGFFYGYTYYVWFVIFLASVGGLYTSVVVKYTDNIMKGFSAAAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 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. {ECO:0000269|PubMed:15576474, ECO:0000269|PubMed:23873973, ECO:0000269|PubMed:28856833}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transports CMP-sialic acid from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges CMP-sialic acid for CMP (PubMed:12682060, PubMed:15576474, PubMed:23873973). Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity). Also able to exchange CMP-sialic acid for AMP and UMP (PubMed:12682060). Also mediates the transport of CDP-ribitol (By similarity). {ECO:0000250|UniProtKB:Q61420, ECO:0000269|PubMed:12682060, ECO:0000269|PubMed:15576474, ECO:0000269|PubMed:23873973}.
uniprot
proteins
mass_dalton
36779
uniprot
proteins
protein_family
Nucleotide-sugar transporter family
uniprot
proteins
protein_family
SLC35A subfamily
uniprot
proteins
pubmed
12682060
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15576474
uniprot
proteins
pubmed
23873973
uniprot
proteins
pubmed
28856833
uniprot
proteins
pubmed
30985278
uniprot
proteins
pubmed
9010752
uniprot
proteins
sequence_length
337
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q61420}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q61420}. Golgi apparatus {ECO:0000269|PubMed:23873973}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..30; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 46..64; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 115..135; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 142..160; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 210..228; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 244..262; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 270..288; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420"; TRANSMEM 297..315; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q61420
uniprot
proteins