SLC35A3
entrez
23443
canonical
uniprot
Q9Y2D2
canonical
ensembl
ENSG00000117620
resolver
ensp
ENSP00000359172
resolver
ensp
ENSP00000414947
resolver
ensp
ENSP00000433849
resolver
ensp
ENSP00000491145
resolver
ensp
ENSP00000492128
resolver
ensp
ENSP00000492169
resolver
ensp
ENSP00000492771
resolver
ensp
ENSP00000492801
resolver
ensp
ENSP00000523008
resolver
ensp
ENSP00000593335
resolver
ensp
ENSP00000623046
resolver
ensp
ENSP00000695242
resolver
ensp
ENSP00000739315
resolver
enst
ENST00000639221
resolver
enst
ENST00000640715
resolver
enst
ENST00000640726
resolver
enst
ENST00000640732
resolver
enst
ENST00000852949
resolver
enst
ENST00000923276
resolver
enst
ENST00000952987
resolver
genesymbol
SLC35A3
resolver
hgnc
HGNC:11023
resolver
uniprot
A0A1W2PQL8
resolver
uniprot
A0A1W2PR66
resolver
uniprot
A0A1W2PRT7
resolver
uniprot
A0A1W2PSD1
resolver
uniprot
A8K3F8
resolver
uniprot
D3DT54
resolver
uniprot
Q68CR2
resolver
uniprot
Q9BSB7
resolver
uniprot_entry
A0A1W2PQL8_HUMAN
resolver
uniprot_entry
A0A1W2PR66_HUMAN
resolver
uniprot_entry
A0A1W2PRT7_HUMAN
resolver
uniprot_entry
A0A1W2PSD1_HUMAN
resolver
uniprot_entry
S35A3_HUMAN
resolver
uniprot_sec
A8K3F8
resolver
uniprot_sec
D3DT54
resolver
uniprot_sec
Q68CR2
resolver
uniprot_sec
Q9BSB7
resolver
amino_acid_sequence
MFANLKYVSLGILVFQTTSLVLTMRYSRTLKEEGPRYLSSTAVVVAELLKIMACILLVYKDSKCSLRALNRVLHDEILNKPMETLKLAIPSGIYTLQNNLLYVALSNLDAATYQVTYQLKILTTALFSVSMLSKKLGVYQWLSLVILMTGVAFVQWPSDSQLDSKELSAGSQFVGLMAVLTACFSSGFAGVYFEKILKETKQSVWIRNIQLGFFGSIFGLMGVYIYDGELVSKNGFFQGYNRLTWIVVVLQALGGLVIAAVIKYADNILKGFATSLSIILSTLISYFWLQDFVPTSVFFLGAILVITATFLYGYDPKPAGNPTKA
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis, impaired intellectual development, and seizures (AMRS) [MIM:615553]: A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. {ECO:0000269|PubMed:24031089, ECO:0000269|PubMed:28328131}. Note=The disease is caused by variants affecting the gene represented in this entry. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar is significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms.
uniprot
proteins
function
FUNCTION: Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP (PubMed:10393322). May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate highly branched, multiantennary complex N-glycans and keratan sulfate (PubMed:23766508, PubMed:34981577). However, the exact role of SLC35A3 still needs to be elucidated, it could be a member of a catalytically more efficient multiprotein complex rather than function independently as a single transporter (PubMed:32938718). {ECO:0000269|PubMed:10393322, ECO:0000269|PubMed:23766508, ECO:0000269|PubMed:32938718, ECO:0000269|PubMed:34981577}.
uniprot
proteins
mass_dalton
35985
uniprot
proteins
post_translational_modification
PTM: O-Glcnacylation regulates the stability of SLC35A3 and the specific complex formation with MGAT4B. {ECO:0000269|PubMed:34981577}.
uniprot
proteins
protein_family
Nucleotide-sugar transporter family
uniprot
proteins
protein_family
SLC35A subfamily
uniprot
proteins
pubmed
10393322
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23089177
uniprot
proteins
pubmed
23766508
uniprot
proteins
pubmed
24031089
uniprot
proteins
pubmed
28167211
uniprot
proteins
pubmed
28328131
uniprot
proteins
pubmed
32938718
uniprot
proteins
pubmed
34981577
uniprot
proteins
sequence_length
325
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:10393322, ECO:0000269|PubMed:23766508, ECO:0000269|PubMed:28167211}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 42..58; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 138..154; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 173..189; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 209..225; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 246..262; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 268..284; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 295..311; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins