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SLC34A1 solute carrier family 34 member 1 [ Homo sapiens (human) ]

Gene ID: 6569, updated on 13-Mar-2020

Summary

Official Symbol
SLC34A1provided by HGNC
Official Full Name
solute carrier family 34 member 1provided by HGNC
Primary source
HGNC:HGNC:11019
See related
Ensembl:ENSG00000131183 MIM:182309
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPT2; FRTS2; SLC11; HCINF2; NAPI-3; NPTIIa; NPHLOP1; SLC17A2
Summary
This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Expression
Restricted expression toward kidney (RPKM 54.1) See more
Orthologs

Genomic context

See SLC34A1 in Genome Data Viewer
Location:
5q35.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177384434..177412021)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176811432..176825849)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene lectin, mannose binding 2 Neighboring gene ribosomal protein S20 pseudogene 17 Neighboring gene regulator of G protein signaling 14 Neighboring gene VISTA enhancer hs2229 Neighboring gene profilin 3 Neighboring gene coagulation factor XII Neighboring gene G protein-coupled receptor kinase 6 Neighboring gene PRR7 antisense RNA 1 Neighboring gene proline rich 7, synaptic Neighboring gene drebrin 1

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Fanconi renotubular syndrome 2
MedGen: C3150652 OMIM: 613388 GeneReviews: Not available
Compare labs
Hypercalcemia, infantile, 2
MedGen: C4310473 OMIM: 616963 GeneReviews: Not available
Compare labs
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
MedGen: C2676786 OMIM: 612286 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
NHGRI GWA Catalog
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
sodium:phosphate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:phosphate symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
sodium:phosphate symporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
arsenate ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cellular phosphate ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to metal ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to parathyroid hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to staurosporine IEA
Inferred from Electronic Annotation
more info
 
dentinogenesis IEA
Inferred from Electronic Annotation
more info
 
gentamycin metabolic process IEA
Inferred from Electronic Annotation
more info
 
glycoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
 
indole metabolic process IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
phosphate ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
phosphate ion transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sodium-dependent phosphate transport IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion IDA
Inferred from Direct Assay
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to growth hormone IEA
Inferred from Electronic Annotation
more info
 
response to lead ion IDA
Inferred from Direct Assay
more info
PubMed 
response to magnesium ion IEA
Inferred from Electronic Annotation
more info
 
response to mercury ion IDA
Inferred from Direct Assay
more info
PubMed 
response to potassium ion IEA
Inferred from Electronic Annotation
more info
 
response to thyroid hormone IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
sodium ion import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
sodium-dependent phosphate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tricarboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
brush border membrane NAS
Non-traceable Author Statement
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sodium-dependent phosphate transport protein 2A
Names
Na(+)-dependent phosphate cotransporter 2A
Na(+)/Pi cotransporter 2A
Na+-phosphate cotransporter type II
naPi-2a
renal sodium-dependent phosphate transporter
sodium-phosphate transport protein 2A
sodium/phosphate co-transporter
sodium/phosphate cotransporter 2A
solute carrier family 17 (sodium phosphate), member 2
solute carrier family 34 (sodium phosphate), member 1
solute carrier family 34 (type II sodium/phosphate cotransporter), 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.

Genomic

  1. NG_016223.1 RefSeqGene

    Range
    5004..19418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167579.2NP_001161051.1  sodium-dependent phosphate transport protein 2A isoform 2

    See identical proteins and their annotated locations for NP_001161051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC145098, AI650347, AK298299, BI759164
    Consensus CDS
    CCDS54953.1
    UniProtKB/Swiss-Prot
    Q06495
    Related
    ENSP00000423022.1, ENST00000512593.5
    Conserved Domains (2) summary
    TIGR01013
    Location:108310
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:113204
    Na_Pi_cotrans; Na+/Pi-cotransporter
  2. NM_003052.5NP_003043.3  sodium-dependent phosphate transport protein 2A isoform 1

    See identical proteins and their annotated locations for NP_003043.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    BC050385, BC053349, BP275443
    Consensus CDS
    CCDS4418.1
    UniProtKB/Swiss-Prot
    Q06495
    UniProtKB/TrEMBL
    A0A024R7R9, Q7Z725, Q86VN6
    Related
    ENSP00000321424.4, ENST00000324417.6
    Conserved Domains (2) summary
    TIGR01013
    Location:108590
    2a58; Phosphate:Na+ Symporter (PNaS) Family
    pfam02690
    Location:113204
    Na_Pi_cotrans; Na+/Pi-cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177384434..177412021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009773.2XP_016865262.1  sodium-dependent phosphate transport protein 2A isoform X2

  2. XM_024446191.1XP_024301959.1  sodium-dependent phosphate transport protein 2A isoform X1

    Conserved Domains (1) summary
    TIGR01013
    Location:108534
    2a58; Phosphate:Na+ Symporter (PNaS) Family
  3. XM_017009775.2XP_016865264.1  sodium-dependent phosphate transport protein 2A isoform X4

  4. XM_017009774.1XP_016865263.1  sodium-dependent phosphate transport protein 2A isoform X3

RNA

  1. XR_941112.2 RNA Sequence

  2. XR_941113.2 RNA Sequence

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