Q9NTN3 · S35D1_HUMAN
- ProteinNucleotide sugar transporter SLC35D1
- GeneSLC35D1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids355 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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).
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).
Catalytic activity
- UDP-alpha-D-glucuronate(out) + UDP-N-acetyl-alpha-D-glucosamine(in) = UDP-alpha-D-glucuronate(in) + UDP-N-acetyl-alpha-D-glucosamine(out)This reaction proceeds in the forward direction.
- UDP-alpha-D-glucuronate(out) + UDP-N-acetyl-alpha-D-galactosamine(in) = UDP-alpha-D-glucuronate(in) + UDP-N-acetyl-alpha-D-galactosamine(out)This reaction proceeds in the forward direction.
- UDP-N-acetyl-alpha-D-glucosamine(in) + UMP(out) = UDP-N-acetyl-alpha-D-glucosamine(out) + UMP(in)
- UDP-N-acetyl-alpha-D-galactosamine(in) + UMP(out) = UDP-N-acetyl-alpha-D-galactosamine(out) + UMP(in)
- UDP-alpha-D-glucuronate(in) + UMP(out) = UDP-alpha-D-glucuronate(out) + UMP(in)
- UDP-alpha-D-galactose(in) + UMP(out) = UDP-alpha-D-galactose(out) + UMP(in)
- UDP-alpha-D-glucose(in) + UMP(out) = UDP-alpha-D-glucose(out) + UMP(in)
- UDP-alpha-D-xylose(in) + UMP(out) = UDP-alpha-D-xylose(out) + UMP(in)
- UDP-beta-L-arabinopyranose(in) + UMP(out) = UDP-beta-L-arabinopyranose(out) + UMP(in)
- UDP-beta-L-arabinofuranose(in) + UMP(out) = UDP-beta-L-arabinofuranose(out) + UMP(in)
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
6 μM | UDP-alpha-D-glucuronate | |||||
37 μM | UDP-N-acetyl-alpha-D-glucosamine | |||||
27 μM | UDP-N-acetyl-alpha-D-galactosamine | |||||
36 μM | UDP-alpha-D-xylose | |||||
106 μM | UDP-beta-L-arabinopyranose | |||||
108 μM | UDP-alpha-D-glucose | |||||
126 μM | UDP-alpha-D-galactose |
kcat is 0.1 sec-1 with UDP-alpha-D-glucuronate as substrate. kcat is 0.4 sec-1 with UDP-N-acetyl-alpha-D-glucosamine as substrate. kcat is 0.3 sec-1 with UDP-N-acetyl-alpha-D-galactosamine as substrate. kcat is 0.2 sec-1 with UDP-alpha-D-xylose as substrate. kcat is 0.1 sec-1 with UDP-beta-L-arabinopyranose as substrate. kcat is 0.2 sec-1 with UDP-alpha-D-glucose as substrate. kcat is 0.2 sec-1 with UDP-alpha-D-galactose as substrate.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | Golgi apparatus | |
Molecular Function | antiporter activity | |
Molecular Function | UDP-glucuronic acid transmembrane transporter activity | |
Molecular Function | UDP-N-acetylgalactosamine transmembrane transporter activity | |
Molecular Function | UDP-N-acetylglucosamine transmembrane transporter activity | |
Biological Process | nucleotide-sugar transmembrane transport | |
Biological Process | pyrimidine nucleotide-sugar transmembrane transport |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameNucleotide sugar transporter SLC35D1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NTN3
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 37-59 | Helical | ||||
Sequence: LTVFLKLLAAGFYGVSSFLIVVV | ||||||
Transmembrane | 69-88 | Helical | ||||
Sequence: FPSSLCVGLGQMVATVAVLW | ||||||
Transmembrane | 158-177 | Helical | ||||
Sequence: FSWGIKMTVFAMIIGAFVAA | ||||||
Transmembrane | 187-205 | Helical | ||||
Sequence: GYAFILINDVLTAANGAYV | ||||||
Transmembrane | 217-239 | Helical | ||||
Sequence: YGLLYYNALFMILPTLAIAYFTG | ||||||
Transmembrane | 254-276 | Helical | ||||
Sequence: LFLLQFTLSCVMGFILMYATVLC | ||||||
Transmembrane | 281-303 | Helical | ||||
Sequence: SALTTTIVGCIKNILITYIGMVF | ||||||
Transmembrane | 308-330 | Helical | ||||
Sequence: IFTWTNFIGLNISIAGSLVYSYI |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Schneckenbecken dysplasia (SHNKND)
- Note
- DescriptionA 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.
- See alsoMIM:269250
Natural variants in SHNKND
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_087509 | 65 | T>P | in SHNKND; loss of transporter activity; dbSNP:rs267607062 | |
VAR_087511 | 311-355 | missing | in SHNKND; loss of transporter activity |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_087509 | 65 | in SHNKND; loss of transporter activity; dbSNP:rs267607062 | |||
Sequence: T → P | ||||||
Natural variant | VAR_042729 | 82 | in dbSNP:rs10157422 | |||
Sequence: A → T | ||||||
Natural variant | VAR_087510 | 133 | found in a patient with type II collagenopathy; markedly decreases transporter activity; dbSNP:rs1558168052 | |||
Sequence: P → L | ||||||
Natural variant | VAR_087511 | 311-355 | in SHNKND; loss of transporter activity | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 382 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000213394 | 1-355 | Nucleotide sugar transporter SLC35D1 | |||
Sequence: MAEVHRRQHARVKGEAPAKSSTLRDEEELGMASAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFPSSLCVGLGQMVATVAVLWVGKALRVVKFPDLDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRRFSILFTMFAEGVLLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYAFILINDVLTAANGAYVKQKLDSKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAVEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYNSALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEANNKLDIKGKGAV |
Proteomic databases
PTM databases
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-22 | Disordered | ||||
Sequence: MAEVHRRQHARVKGEAPAKSST |
Sequence similarities
Belongs to the TPT transporter family. SLC35D subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9NTN3-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length355
- Mass (Da)39,240
- Last updated2000-10-01 v1
- ChecksumCAFF15D49605CA27
Q9NTN3-2
- Name2
Sequence caution
Features
Showing features for alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB044343 EMBL· GenBank· DDBJ | BAB18586.1 EMBL· GenBank· DDBJ | mRNA | ||
D87449 EMBL· GenBank· DDBJ | BAA13390.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK289800 EMBL· GenBank· DDBJ | BAF82489.1 EMBL· GenBank· DDBJ | mRNA | ||
AK296449 EMBL· GenBank· DDBJ | BAH12358.1 EMBL· GenBank· DDBJ | mRNA | ||
AL133320 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC093786 EMBL· GenBank· DDBJ | AAH93786.1 EMBL· GenBank· DDBJ | mRNA | ||
BC112031 EMBL· GenBank· DDBJ | AAI12032.1 EMBL· GenBank· DDBJ | mRNA |