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

Gene ID: 6569, updated on 23-Nov-2023

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; AllianceGenome:HGNC:11019
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
Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; phosphate ion transport; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward kidney (RPKM 54.1) See more
Orthologs
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Genomic context

See SLC34A1 in Genome Data Viewer
Location:
5q35.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177384434..177398848)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (177927652..177942066)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176811435..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 ATAC-STARR-seq lymphoblastoid active region 23706 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:176778754-176778968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176784977-176785477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23712 Neighboring gene regulator of G protein signaling 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176793955-176794594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176794595-176795233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176796333-176797184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176800703-176801203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176814616-176815116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176815117-176815617 Neighboring gene VISTA enhancer hs2229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176823005-176823660 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:176824881-176825056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176828971-176829828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176830685-176831542 Neighboring gene profilin 3 Neighboring gene coagulation factor XII

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
Hypophosphatemic nephrolithiasis/osteoporosis 1
MedGen: C2676786 OMIM: 612286 GeneReviews: Not available
Compare labs

EBI 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.
EBI GWAS Catalog
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

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)

NEW Try the new Transcript table

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_016223.2 RefSeqGene

    Range
    5002..19416
    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
    B4DPE3, Q06495
    UniProtKB/TrEMBL
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    177384434..177398848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    177927652..177942066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)