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SLC17A1 solute carrier family 17 member 1 [ Homo sapiens (human) ]

Gene ID: 6568, updated on 17-Jun-2019

Summary

Official Symbol
SLC17A1provided by HGNC
Official Full Name
solute carrier family 17 member 1provided by HGNC
Primary source
HGNC:HGNC:10929
See related
Ensembl:ENSG00000124568 MIM:182308
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPT1; NPT-1; NAPI-1
Expression
Restricted expression toward kidney (RPKM 52.9) See more
Orthologs

Genomic context

See SLC17A1 in Genome Data Viewer
Location:
6p22.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (25723743..25832108, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25783125..25832287, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene capping protein regulator and myosin 1 linker 1 Neighboring gene RNA, U6 small nuclear 987, pseudogene Neighboring gene PRELI domain containing 1 pseudogene 2 Neighboring gene secretagogin, EF-hand calcium binding protein Neighboring gene histone cluster 1 H2B pseudogene 1 Neighboring gene histone cluster 1 H2A pseudogene 1 Neighboring gene histone cluster 1 H2A family member a Neighboring gene histone cluster 1 H2B family member a Neighboring gene solute carrier family 17 member 4 Neighboring gene histone cluster 1 H2A pseudogene 2 Neighboring gene solute carrier family 17 member 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of red blood cell traits using the electronic medical record.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Common variants on chromosome 6p22.1 are associated with schizophrenia.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
NHGRI GWA Catalog
Identification of low-frequency variants associated with gout and serum uric acid levels.
NHGRI GWA Catalog
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
NHGRI GWA Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
NHGRI GWA Catalog
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
NHGRI GWA Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126794, MGC126796

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sialic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium-dependent phosphate transmembrane transporter activity TAS
Traceable Author Statement
more info
 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ion transport TAS
Traceable Author Statement
more info
 
phosphate ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
phosphate ion transport TAS
Traceable Author Statement
more info
PubMed 
sialic acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
sodium-dependent phosphate transport IEA
Inferred from Electronic Annotation
more info
 
urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
urate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium-dependent phosphate transport protein 1
Names
Na(+)/PI cotransporter 1
na/Pi-4
renal Na(+)-dependent phosphate cotransporter 1
renal sodium-dependent phosphate transport protein 1
renal sodium-phosphate transport protein 1
sodium phosphate transporter
sodium/phosphate cotransporter 1
sodium/phosphate type I cotransporter
solute carrier family 17 (organic anion transporter), member 1
solute carrier family 17 (sodium phosphate), member 1
solute carrier family 17 (vesicular glutamate transporter), member 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005074.4NP_005065.2  sodium-dependent phosphate transport protein 1

    See identical proteins and their annotated locations for NP_005065.2

    Status: VALIDATED

    Source sequence(s)
    BC101745, BG054690, D28532, DC362172
    Consensus CDS
    CCDS4565.1
    UniProtKB/Swiss-Prot
    Q14916
    Related
    ENSP00000244527.4, ENST00000244527.8
    Conserved Domains (2) summary
    cd06174
    Location:73451
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:3466
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    25723743..25832108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011201.2XP_016866690.1  sodium-dependent phosphate transport protein 1 isoform X1

  2. XM_017011200.1XP_016866689.1  sodium-dependent phosphate transport protein 1 isoform X1

  3. XM_011514818.2XP_011513120.2  sodium-dependent phosphate transport protein 1 isoform X2

  4. XM_017011202.1XP_016866691.1  sodium-dependent phosphate transport protein 1 isoform X3

  5. XM_011514819.2XP_011513121.2  sodium-dependent phosphate transport protein 1 isoform X4

  6. XM_011514820.2XP_011513122.2  sodium-dependent phosphate transport protein 1 isoform X5

    Related
    ENSP00000420546.1, ENST00000468082.1
  7. XM_017011199.1XP_016866688.1  sodium-dependent phosphate transport protein 1 isoform X1

  8. XM_011514821.2XP_011513123.1  sodium-dependent phosphate transport protein 1 isoform X6

    Conserved Domains (2) summary
    cd06174
    Location:2380
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:2339
    MFS_1; Major Facilitator Superfamily
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