SLC35D1
entrez
23169
canonical
uniprot
Q9NTN3
canonical
ensembl
ENSG00000116704
resolver
ensp
ENSP00000235345
resolver
ensp
ENSP00000571571
resolver
ensp
ENSP00000673683
resolver
ensp
ENSP00000673686
resolver
genesymbol
SLC35D1
resolver
genesymbol_syn
KIAA0260
resolver
genesymbol_syn
UGTREL7
resolver
hgnc
HGNC:20800
resolver
uniprot
A8K185
resolver
uniprot
B7Z3X2
resolver
uniprot
Q52LU5
resolver
uniprot
Q92548
resolver
uniprot_entry
S35D1_HUMAN
resolver
uniprot_sec
A8K185
resolver
uniprot_sec
B7Z3X2
resolver
uniprot_sec
Q52LU5
resolver
uniprot_sec
Q92548
resolver
amino_acid_sequence
MAEVHRRQHARVKGEAPAKSSTLRDEEELGMASAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKALRVVKFPDLDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGVLLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYAFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAVEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEANNKLDIKGKGAV
uniprot
proteins
disease_involvement
DISEASE: Schneckenbecken dysplasia (SHNKND) [MIM:269250]: A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period. {ECO:0000269|PubMed:17952091, ECO:0000269|PubMed:31423530}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for either their cognate nucleoside monophosphate or another nucleotide sugar (PubMed:16965264, PubMed:17599910, PubMed:31423530). Transports various UDP-sugars including UDP-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc), UDP-N-acetyl-alpha-D-galactosamine (UDP-GalNAc) and UDP-alpha-D-glucuronate (UDP-GlcA), which are used by ER glucosyltransferases as sugar donors for the synthesis of sugar chains of glycoproteins, glycolipids and oligosaccharides (PubMed:11322953, PubMed:16965264, PubMed:17599910, PubMed:17952091, PubMed:31423530). May couple UDP-GlcNAc or UDP-GalNAc efflux to UDP-GlcA influx into the ER lumen that in turn stimulates glucuronidation and subsequent excretion of endobiotics and xenobiotics (PubMed:16965264, PubMed:17599910). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity). {ECO:0000250|UniProtKB:A2AKQ0, ECO:0000269|PubMed:11322953, ECO:0000269|PubMed:16965264, ECO:0000269|PubMed:17599910, ECO:0000269|PubMed:17952091, ECO:0000269|PubMed:31423530}.
uniprot
proteins
mass_dalton
39240
uniprot
proteins
protein_family
SLC35D subfamily
uniprot
proteins
protein_family
TPT transporter family
uniprot
proteins
pubmed
11322953
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16965264
uniprot
proteins
pubmed
17599910
uniprot
proteins
pubmed
17952091
uniprot
proteins
pubmed
31423530
uniprot
proteins
pubmed
9039502
uniprot
proteins
sequence_length
355
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11322953}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..59; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 69..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 158..177; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 217..239; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 254..276; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 281..303; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 308..330; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins