SLC35A2
entrez
7355
canonical
uniprot
P78381
canonical
ensembl
ENSG00000102100
resolver
ensembl
ENSG00000292209
resolver
ensp
ENSP00000247138
resolver
ensp
ENSP00000365698
resolver
ensp
ENSP00000365704
resolver
ensp
ENSP00000365712
resolver
ensp
ENSP00000402726
resolver
ensp
ENSP00000416002
resolver
ensp
ENSP00000478617
resolver
ensp
ENSP00000489197
resolver
ensp
ENSP00000518021
resolver
ensp
ENSP00000518026
resolver
ensp
ENSP00000518028
resolver
enst
ENST00000376515
resolver
enst
ENST00000376529
resolver
enst
ENST00000616181
resolver
enst
ENST00000710054
resolver
enst
ENST00000710059
resolver
enst
ENST00000710061
resolver
genesymbol
SLC35A2
resolver
genesymbol_syn
UGALT
resolver
genesymbol_syn
UGT
resolver
genesymbol_syn
UGTL
resolver
hgnc
HGNC:11022
resolver
uniprot
A0AAG2UWE1
resolver
uniprot
A6NFI1
resolver
uniprot
A6NKM8
resolver
uniprot
A8K2L9
resolver
uniprot
A8K9V1
resolver
uniprot
B4DE11
resolver
uniprot
B4DE15
resolver
uniprot
B4DPT2
resolver
uniprot
E7EW45
resolver
uniprot
Q8IV21
resolver
uniprot
Q92553
resolver
uniprot_entry
A0AAG2UWE1_HUMAN
resolver
uniprot_entry
A6NFI1_HUMAN
resolver
uniprot_entry
A6NKM8_HUMAN
resolver
uniprot_entry
B4DE15_HUMAN
resolver
uniprot_entry
S35A2_HUMAN
resolver
uniprot_sec
A8K2L9
resolver
uniprot_sec
A8K9V1
resolver
uniprot_sec
B4DE11
resolver
uniprot_sec
B4DPT2
resolver
uniprot_sec
E7EW45
resolver
uniprot_sec
Q8IV21
resolver
uniprot_sec
Q92553
resolver
amino_acid_sequence
MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]: An X-linked dominant, severe neurologic disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:23561849, ECO:0000269|PubMed:24115232, ECO:0000269|PubMed:25778940, ECO:0000269|PubMed:30817854, ECO:0000269|PubMed:30834435, ECO:0000269|PubMed:34384782, ECO:0000269|PubMed:37069668}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP (PubMed:12682060, PubMed:9010752). It is also able to exchange UDP-galactose for AMP and CMP, and to transport UDP-N-acetylgalactosamine (UDP-GalNAc) and other nucleotide sugars (PubMed:11784306, PubMed:12682060). As a provider of UDP-galactose to galactosyltransferases present in the Golgi apparatus, it is necessary for globotriaosylceramide/globoside (Gb3Cer) synthesis from lactosylceramide (PubMed:30817854). {ECO:0000269|PubMed:11784306, ECO:0000269|PubMed:12682060, ECO:0000269|PubMed:23561849, ECO:0000269|PubMed:30817854, ECO:0000269|PubMed:30834435, ECO:0000269|PubMed:9010752}.
uniprot
proteins
mass_dalton
41307
uniprot
proteins
mutagenesis
MUTAGEN 65; /note="F->L: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 75; /note="E->A: Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 78; /note="K->A: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport."; /evidence="ECO:0000269|PubMed:30834435"; MUTAGEN 125; /note="Q->A: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-126, A-129 and A-278. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 126; /note="N->A: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-125, A-129 and A-278. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 129; /note="Q->A: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-125, A-126 and A-278. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 141; /note="F->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 142; /note="Q->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 145; /note="Y->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 146; /note="Q->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 148; /note="K->A: Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 152; /note="T->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 152; /note="T->F: Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 202; /note="G->I: Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport."; /evidence="ECO:0000269|PubMed:30834435"; MUTAGEN 213; /note="S->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 214; /note="G->I: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport."; /evidence="ECO:0000269|PubMed:30834435"; MUTAGEN 235; /note="N->A,Q: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 239; /note="G->Y: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 277; /note="N->K: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 278; /note="Q->A: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-125, A-126 and A-129. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 285; /note="V->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 294; /note="N->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 297; /note="K->A: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport."; /evidence="ECO:0000269|PubMed:30834435"; MUTAGEN 297; /note="K->E: Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport. No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 301; /note="T->A: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782"; MUTAGEN 308; /note="S->F: No effect on localization to Golgi apparatus."; /evidence="ECO:0000269|PubMed:34384782
uniprot
proteins
protein_family
Nucleotide-sugar transporter family
uniprot
proteins
protein_family
SLC35A subfamily
uniprot
proteins
pubmed
11784306
uniprot
proteins
pubmed
12682060
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15932921
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
23089177
uniprot
proteins
pubmed
23561849
uniprot
proteins
pubmed
24115232
uniprot
proteins
pubmed
25778940
uniprot
proteins
pubmed
25877686
uniprot
proteins
pubmed
26350515
uniprot
proteins
pubmed
26740508
uniprot
proteins
pubmed
28167211
uniprot
proteins
pubmed
29679388
uniprot
proteins
pubmed
30817854
uniprot
proteins
pubmed
30834435
uniprot
proteins
pubmed
32827291
uniprot
proteins
pubmed
34384782
uniprot
proteins
pubmed
37069668
uniprot
proteins
pubmed
8128316
uniprot
proteins
pubmed
8889805
uniprot
proteins
pubmed
9010752
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15932921}. Golgi apparatus membrane {ECO:0000269|PubMed:15932921, ECO:0000269|PubMed:24115232, ECO:0000269|PubMed:28167211}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus membrane {ECO:0000269|PubMed:15932921}.
uniprot
proteins
transmembrane_region
TRANSMEM 3..23; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 65..85; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 97..117; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 140..160; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 200..220; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 238..258; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 269..289; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 315..335; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins