Slc34a1 solute carrier family 34 (sodium phosphate), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc34a1provided by MGI
Official Full Name: solute carrier family 34 (sodium phosphate), member 1provided by MGI
Primary source: MGI:MGI:1345284
See related: Ensembl:ENSMUSG00000021490 AllianceGenome:MGI:1345284
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Npt2; Npt2a; Slc17a2; NaPi-IIa
Summary: Predicted to enable PDZ domain binding activity; identical protein binding activity; and sodium:phosphate symporter activity. Acts upstream of or within bone remodeling. Located in basolateral plasma membrane and vesicle. Is expressed in genitourinary system; ileum; skeleton; and tooth. Used to study hereditary hypophosphatemic rickets with hypercalciuria. Human ortholog(s) of this gene implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. Orthologous to human SLC34A1 (solute carrier family 34 member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward kidney adult (RPKM 2731.8) See more
Orthologs: human all
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Genomic context

Location:: 13 B1; 13 29.81 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (55547435..55562508)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (55399622..55414695)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.
Title: The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.
Cre/loxP approach-mediated downregulation of Pik3c3 inhibits the hypertrophic growth of renal proximal tubule cells.
Title: Cre/loxP approach-mediated downregulation of Pik3c3 inhibits the hypertrophic growth of renal proximal tubule cells.
Selective pharmacological inhibition of the sodium-dependent phosphate cotransporter NPT2a promotes phosphate excretion.
Title: Selective pharmacological inhibition of the sodium-dependent phosphate cotransporter NPT2a promotes phosphate excretion.
Nampt/NAD(+) system for Npt2 regulation and cellular shifts to tissues such as the liver play an important role in generating daily oscillation of plasma inorganic phosphate levels.
Title: The sodium phosphate cotransporter family and nicotinamide phosphoribosyltransferase contribute to the daily oscillation of plasma inorganic phosphate concentration.
Results show that urine pyrophosphate (PPI) levels are increased in Npt2a-/- mice when compared to WT, possibly to protect from renal mineralization in the setting of hyperphosphaturia. However, the presence of two hypomorphic Enpp1asj/asj alleles decreases urine PPi and worsens renal calcium phosphate deposit formation in Npt2a-/- mice.
Title: Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice.
Npt2a-/- mice respond differently to dietary phosphate when compared to WT mice
Title: Response of Npt2a knockout mice to dietary calcium and phosphorus.
observed a marked decrease of renal gene expression and urinary excretion of osteopontin in Npt2a(-/-) mice
Title: Impaired urinary osteopontin excretion in Npt2a-/- mice.
Analysis of calcium and phosphate metabolism in Slc34a1-knockout mice highlighted the effect of phosphate depletion and fibroblast growth factor-23 suppression on the development of the idiopathic infantile hypercalcemia phenotype.
Title: Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
AC6 in the proximal tubule modulates cAMP formation, Npt2a trafficking, and urinary phosphate excretion, which are highlighted by renal phosphate wasting in AC6(-/-) mice
Title: Renal phosphate wasting in the absence of adenylyl cyclase 6.
Downregulation of renal Npt2a expression through induction of plasma iPTH levels alters Pi homeostasis during LPS-induced acute inflammation.
Title: Downregulation of renal type IIa sodium-dependent phosphate cotransporter during lipopolysaccharide-induced acute inflammation.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (8) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH144519 (e-PCR)
- UniSTS:233764

Slc34a1 (e-PCR), detects polymorphism
- UniSTS:144430

Slc34a1 (e-PCR), detects polymorphism
- UniSTS:516659

NoName (e-PCR)
- UniSTS:225200

Slc34a1 (e-PCR), detects polymorphism
- UniSTS:546005

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in arsenate ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to phosphate starvation	ISO Inferred from Sequence Orthology more info
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic diphosphate transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in inorganic diphosphate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular phosphate ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in phosphate ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in phosphate ion transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphate transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sodium-dependent phosphate transport	ISO Inferred from Sequence Orthology more info
involved_in response to cadmium ion	ISO Inferred from Sequence Orthology more info
involved_in response to lead ion	ISO Inferred from Sequence Orthology more info
involved_in response to mercury ion	ISO Inferred from Sequence Orthology more info
involved_in response to sodium phosphate	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to sodium phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in sodium-dependent phosphate transport	IBA Inferred from Biological aspect of Ancestor 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
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral 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	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sodium-dependent phosphate transport protein 2A

Names: Na(+)-dependent phosphate cotransporter 2A; Na(+)/Pi cotransporter 2A; Na+-phosphate cotransporter type II; Na/Pi cotransporter; naPi-2a; naPi-7; renal Na+/Pi transporter; sodium-phosphate transport protein 2A; sodium/phosphate cotransporter 2A; solute carrier family 17 (sodium/hydrogen exchanger), member 2; solute carrier family 34 member 1; type IIa Na+/Pi-cotransporter

NCBI Reference Sequences (RefSeq)

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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)

NM_011392.2 → NP_035522.2 sodium-dependent phosphate transport protein 2A

See identical proteins and their annotated locations for NP_035522.2

Status: VALIDATED

Source sequence(s)

AB163922, CB952922, CT009762

Consensus CDS

CCDS49271.1

UniProtKB/Swiss-Prot

E9QKA0, Q60825, Q62110, Q62111, Q62112, Q62113, Q62114, Q62115, Q62116, Q62564

UniProtKB/TrEMBL

Q9D2V6

Related

ENSMUSP00000059138.8, ENSMUST00000057167.9

Conserved Domains (2) summary

TIGR01013
Location:108 → 588

2a58; Phosphate:Na+ Symporter (PNaS) Family

pfam02690
Location:113 → 204

Na_Pi_cotrans; Na+/Pi-cotransporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

55547435..55562508

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517177.3 → XP_006517240.1 sodium-dependent phosphate transport protein 2A isoform X1

UniProtKB/Swiss-Prot

E9QKA0, Q60825, Q62110, Q62111, Q62112, Q62113, Q62114, Q62115, Q62116, Q62564

Conserved Domains (1) summary

TIGR01013
Location:87 → 497

2a58; Phosphate:Na+ Symporter (PNaS) Family
XM_006517178.3 → XP_006517241.1 sodium-dependent phosphate transport protein 2A isoform X2

Conserved Domains (1) summary

TIGR01013
Location:1 → 400

2a58; Phosphate:Na+ Symporter (PNaS) Family