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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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)