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solute carrier family 35 member D1
Summary
- Gene Symbol
-
- SLC35D1
- Aliases
-
- KIAA0260
- UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
- UGTREL7
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Dwarfism
- Endoplasmic reticulum
- Reference proteome
- Sugar transport
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NTN3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane |
|
|
| Golgi apparatus |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| antiporter activity | ||
| UDP-N-acetylglucosamine transmembrane transporter activity | ||
| UDP-N-acetylgalactosamine transmembrane transporter activity | ||
| UDP-glucuronic acid transmembrane transporter activity |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg177
- Gene Symbol
-
- SLC35D1
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | XP_216462 | XM_216462 |
| Drosophila melanogaster | NP_524126 | NM_079402 |
| Caenorhabditis elegans | NP_495436 | NM_063035 |
| Mus musculus | NP_808400 | NM_177732 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050775 | schneckenbecken dysplasia | |
| DOID:0060465 | fibrochondrogenesis | |
| DOID:0110213 | isolated cleft palate | |
| DOID:11383 | cryptorchidism | |
| DOID:12721 | multiple epiphyseal dysplasia | |
| DOID:12804 | mucopolysaccharidosis IV | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:2723 | dermatitis | |
| DOID:4976 | elephantiasis | |
| DOID:4977 | lymphedema |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000272 | Malar flattening |
| HP:0000470 | Short neck |
| HP:0000773 | Short ribs |
| HP:0000774 | Narrow chest |
| HP:0000882 | Hypoplastic scapulae |
| Disease ID | Disease Name |
|---|---|
| ORPHA:3144 |
|
| OMIM:269250 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174145 | WB:WBGene00005025 | ||
| 39943 | FB:FBgn0042641 | ||
| 100176985 | CIOIN10313 | ||
| 106701764 | LATCH11711 | ||
| 445400 | ZFIN:ZDB-GENE-040826-5 | DANRE37723 | |
| 393447 | ZFIN:ZDB-GENE-040426-1213 | ||
| 103033678 | ASTMX11555 | ||
| 108272060 | ICTPU02261 | ||
| 113570466 | ELEEL08493 | ||
| 115183230 | SALTR50752 |
