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Gene Gene information from NCBI Gene database.
Entrez ID 6561
Gene name Solute carrier family 13 member 1
Gene symbol SLC13A1
Synonyms (NCBI Gene)
NAS1NaSi-1
Chromosome 7
Chromosome location 7q31.32
Summary The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
miRNA miRNA information provided by mirtarbase database.
161 Show/Hide all (161)
miRTarBase ID miRNA Experiments Reference
MIRT1352416 hsa-miR-1273 CLIP-seq
MIRT1352417 hsa-miR-1279 CLIP-seq
MIRT1352418 hsa-miR-15a CLIP-seq
MIRT1352419 hsa-miR-15b CLIP-seq
MIRT1352420 hsa-miR-16 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0006811 Process Monoatomic ion transport IEA
GO:0006814 Process Sodium ion transport IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606193 10916 ENSG00000081800
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZW2
Protein name Solute carrier family 13 member 1 (Renal sodium/sulfate cotransporter) (Na(+)/sulfate cotransporter) (hNaSi-1)
Protein function Sodium:sulfate symporter that mediates sulfate reabsorption in the kidney and small intestine (PubMed:11161786). Can also mediate the transport of selenate and thiosulfate (By similarity). {ECO:0000250|UniProtKB:Q07782, ECO:0000269|PubMed:111617
PDB 8W6H , 8W6N , 8W6O , 8W6T , 8Y5U , 8Y5W , 8Y5X , 8Y5Y , 8Y5Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00939 Na_sulph_symp 6 → 579 Sodium:sulfate symporter transmembrane region Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney; not detectable in the other tissues tested. {ECO:0000269|PubMed:11161786}.
Sequence
Sequence length 595
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Sodium-coupled sulphate, di- and tri-carboxylate transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Abnormality of neuronal migration Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (12)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic Disorder Autism Pubtator 36175384 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 31600309
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 36175384 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Cardiomegaly Pubtator 36175384 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Pain Chronic pain Pubtator 36943258, 37895311 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38062804 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism BEFREE 24193406
★★★★★
★☆☆☆☆
Found in Text Mining only
Intervertebral disc disease Intervertebral disc disease Pubtator 35110524 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic Diseases BEFREE 23300579
★★★★★
★☆☆☆☆
Found in Text Mining only
Mucopolysaccharidosis IV Mucopolysaccharidosis BEFREE 23300579
★★★★★
★☆☆☆☆
Found in Text Mining only