SLC35C1
entrez
55343
canonical
uniprot
Q96A29
canonical
ensembl
ENSG00000181830
resolver
ensp
ENSP00000313318
resolver
ensp
ENSP00000412408
resolver
ensp
ENSP00000432145
resolver
ensp
ENSP00000623788
resolver
ensp
ENSP00000796604
resolver
genesymbol
SLC35C1
resolver
genesymbol_syn
FUCT1
resolver
hgnc
HGNC:20197
resolver
uniprot
B2RDB2
resolver
uniprot
B3KQH0
resolver
uniprot
Q9BV76
resolver
uniprot
Q9NUJ8
resolver
uniprot_entry
B3KQH0_HUMAN
resolver
uniprot_entry
FUCT1_HUMAN
resolver
uniprot_sec
B2RDB2
resolver
uniprot_sec
Q9BV76
resolver
uniprot_sec
Q9NUJ8
resolver
amino_acid_sequence
MNRAPLKRSRILHMALTGASDPSAEAEANGEKPFLLRALQIALVVSLYWVTSISMVFLNKYLLDSPSLRLDTPIFVTFYQCLVTTLLCKGLSALAACCPGAVDFPSLRLDLRVARSVLPLSVVFIGMITFNNLCLKYVGVAFYNVGRSLTTVFNVLLSYLLLKQTTSFYALLTCGIIIGGFWLGVDQEGAEGTLSWLGTVFGVLASLCVSLNAIYTTKVLPAVDGSIWRLTFYNNVNACILFLPLLLLLGELQALRDFAQLGSAHFWGMMTLGGLFGFAIGYVTGLQIKFTSPLTHNVSGTAKACAQTVLAVLYYEETKSFLWWTSNMMVLGGSSAYTWVRGWEMKKTPEEPSPKDSEKSAMGV
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. {ECO:0000269|PubMed:11326279, ECO:0000269|PubMed:11326280}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. {ECO:0000269|PubMed:11326279, ECO:0000269|PubMed:11326280, ECO:0000269|PubMed:27738779}.
uniprot
proteins
mass_dalton
39809
uniprot
proteins
protein_family
SLC35C subfamily
uniprot
proteins
protein_family
TPT transporter family
uniprot
proteins
pubmed
11326279
uniprot
proteins
pubmed
11326280
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
27738779
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:11326279, ECO:0000305|PubMed:11326280, ECO:0000305|PubMed:27738779}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 34..56; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 76..98; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 140..162; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 167..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 195..214; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 227..249; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 264..286; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins