Gene Gene information from NCBI Gene database.
Entrez ID 10237
Gene name Solute carrier family 35 member B1
Gene symbol SLC35B1
Synonyms (NCBI Gene)
AXERUGTREL1
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
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT650464 hsa-miR-5586-5p HITS-CLIP 23824327
MIRT650463 hsa-miR-4699-3p HITS-CLIP 23824327
MIRT650462 hsa-miR-4267 HITS-CLIP 23824327
MIRT621298 hsa-miR-1470 HITS-CLIP 23824327
MIRT621297 hsa-miR-4667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0005459 Function UDP-galactose transmembrane transporter activity IBA
GO:0005459 Function UDP-galactose transmembrane transporter activity TAS 9010752
GO:0005460 Function UDP-glucose transmembrane transporter activity IBA
GO:0005471 Function ATP:ADP antiporter activity IDA 30154480
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610790 20798 ENSG00000121073
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF08449 UAA 13 313 UAA transporter family Family
Sequence
Sequence length 322
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC35B1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 28533516 Associate
★☆☆☆☆
Found in Text Mining only