SLC35B1 (solute carrier family 35 member B1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10237 |
| Gene name | Solute carrier family 35 member B1 |
| Gene symbol | SLC35B1 |
| Synonyms (NCBI Gene) |
AXERUGTREL1
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| Chromosome | 17 |
| Chromosome location | 17q21.33 |
| Summary | This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcr |
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miRNA
miRNA information provided by mirtarbase database.
96
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P78383 | ||||||||||
| Protein name | Solute carrier family 35 member B1 (ATP/ADP exchanger ER) (AXER) (Endoplasmic reticulum ATP/ADP translocase) (UDP-galactose transporter-related protein 1) (UGTrel1) | ||||||||||
| Protein function | ATP:ADP antiporter that catalyzes the exchange of ATP and ADP across the endoplasmic reticulum (ER) membrane. Imports ATP from the cytosol to the ER lumen and exports ADP in the opposite direction (PubMed:30154480, PubMed:35041824). Regulates ER | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 322 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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