Gene Gene information from NCBI Gene database.
Entrez ID 6574
Gene name Solute carrier family 20 member 1
Gene symbol SLC20A1
Synonyms (NCBI Gene)
GLVR1Glvr-1PIT1PiT-1
Chromosome 2
Chromosome location 2q14.1
Summary The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retr
miRNA miRNA information provided by mirtarbase database.
465
miRTarBase ID miRNA Experiments Reference
MIRT004960 hsa-let-7a-5p qRT-PCR 17942906
MIRT004945 hsa-miR-98-5p qRT-PCR 17942906
MIRT026069 hsa-miR-196a-5p Sequencing 20371350
MIRT004945 hsa-miR-98-5p Microarray 19088304
MIRT032183 hsa-let-7d-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ATF1 Activation 11722845
CREB1 Activation 11722845
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005315 Function Phosphate transmembrane transporter activity IBA
GO:0005315 Function Phosphate transmembrane transporter activity IEA
GO:0005316 Function High-affinity phosphate:sodium symporter activity IEA
GO:0005436 Function Sodium:phosphate symporter activity IDA 7929240, 8041748, 11009570, 16790504, 17494632, 19726692
GO:0005436 Function Sodium:phosphate symporter activity TAS 8041748
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137570 10946 ENSG00000144136
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUM9
Protein name Sodium-dependent phosphate transporter 1 (Gibbon ape leukemia virus receptor 1) (GLVR-1) (Leukemia virus receptor 1 homolog) (Phosphate transporter 1) (PiT-1) (Solute carrier family 20 member 1)
Protein function Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:11009570, PubMed:16790504, PubMed:17494632, PubMed:19726692, PubMed:7929240, PubMed:804
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01384 PHO4 39 665 Phosphate transporter family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:2078500}.
Sequence
Sequence length 679
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sodium-coupled phosphate cotransporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
AORTIC VALVE CALCIFICATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE, CALCIFICATION OF CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Achondroplasia Achondroplasia BEFREE 16618986
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 28865461, 29305680, 30975543
★☆☆☆☆
Found in Text Mining only
ACTH Deficiency, Isolated ACTH Deficiency BEFREE 31513261
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10728913, 11796836, 14759067, 18228160, 22199144, 28994039, 30627156, 31167164, 7962335, 8027225, 8077322, 8148036, 8297469, 8733768, 8834538
View all (5 more)
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 25368255
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 23376999
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 37684281 Associate
★☆☆☆☆
Found in Text Mining only
Aortic valve calcification Aortic valve calcification CTD_human_DG 23308213
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic Valve Calcification of Aortic valve disease Pubtator 23849774 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Disease Aortic valve disease Pubtator 23308213 Associate
★☆☆☆☆
Found in Text Mining only