• Gene id: 6569

Gene Summary

• Gene Symbol: SLC34A1   Gene   UCSC   Ensembl
• Aliases: FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2
• Gene name: solute carrier family 34 member 1
• Alternate names: sodium-dependent phosphate transport protein 2A, 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/phos,
• Gene location: 5q35.3 (177384433: 177412020)     Exons: 16     NC_000005.10
• Gene summary(Entrez): 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,
• OMIM: 606797

Protein Summary

• Protein general information: Q06495  
  • Name: Sodium dependent phosphate transport protein 2A (Sodium phosphate transport protein 2A) (Na(+) dependent phosphate cotransporter 2A) (NaPi 3) (Sodium/phosphate cotransporter 2A) (Na(+)/Pi cotransporter 2A) (NaPi 2a) (Solute carrier family 34 member 1)
  • Length: 639  
  • Mass: 68937
  • Tissue specificity: Kidney and lung.
• Sequence:

  MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVLERHEPLP
  AKLALEEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGL
  VVGILVTVLVQSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDC
  FNWLSVLVLLPLEAATGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHS
  LIQIWCHPDSLQAPTSMSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNS
  LLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNIG
  TTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLL
  LPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCC
  ARPEPRSPPLPPRVFLEELPPATPSPRLALPAHHNATRL

• Structural information:
  • Interpro: IPR003841  IPR029848  
  • STRING: ENSP00000321424
• Other Databases: GeneCards:  SLC34A1  Malacards:  SLC34A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030643	cellular phosphate ion homeostasis	IBA	biological process
GO:0044341	sodium-dependent phosphate transport	IBA	biological process
GO:0005436	sodium:phosphate symporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005903	brush border	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0031982	vesicle	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005436	sodium:phosphate symporter activity	IMP	molecular function
GO:0044341	sodium-dependent phosphate transport	IEA	biological process
GO:0005436	sodium:phosphate symporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:2000120	positive regulation of sodium-dependent phosphate transport	IEA	biological process
GO:1901684	arsenate ion transmembrane transport	IEA	biological process
GO:1901128	gentamycin metabolic process	IEA	biological process
GO:0098719	sodium ion import across plasma membrane	IEA	biological process
GO:0097187	dentinogenesis	IEA	biological process
GO:0097066	response to thyroid hormone	IEA	biological process
GO:0072734	cellular response to staurosporine	IEA	biological process
GO:0072350	tricarboxylic acid metabolic process	IEA	biological process
GO:0071107	response to parathyroid hormone	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045838	positive regulation of membrane potential	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0044341	sodium-dependent phosphate transport	IEA	biological process
GO:0035864	response to potassium ion	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0009100	glycoprotein metabolic process	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0001822	kidney development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:2000187	positive regulation of phosphate transmembrane transport	IEA	biological process
GO:1901652	response to peptide	IEA	biological process
GO:0071374	cellular response to parathyroid hormone stimulus	IEA	biological process
GO:0071248	cellular response to metal ion	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043434	response to peptide hormone	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0042431	indole metabolic process	IEA	biological process
GO:0035435	phosphate ion transmembrane transport	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0032026	response to magnesium ion	IEA	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0031226	intrinsic component of plasma membrane	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0046689	response to mercury ion	IDA	biological process
GO:0046686	response to cadmium ion	IDA	biological process
GO:0006817	phosphate ion transport	IDA	biological process
GO:0006817	phosphate ion transport	IDA	biological process
GO:0055062	phosphate ion homeostasis	IDA	biological process
GO:0055062	phosphate ion homeostasis	IDA	biological process
GO:0055062	phosphate ion homeostasis	IDA	biological process
GO:0005436	sodium:phosphate symporter activity	IDA	molecular function
GO:0010288	response to lead ion	IDA	biological process
GO:0006817	phosphate ion transport	IDA	biological process
GO:0005436	sodium:phosphate symporter activity	IDA	molecular function
GO:0005436	sodium:phosphate symporter activity	IDA	molecular function
GO:0031526	brush border membrane	NAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031526	brush border membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Nephrolithiasis/osteoporosis, hypophosphatemic	KEGG:H00888
Fanconi renotubular syndrome	KEGG:H01198
Nephrolithiasis/osteoporosis, hypophosphatemic	KEGG:H00888
Fanconi renotubular syndrome	KEGG:H01198
Hereditary hypophosphatemic rickets with hypercalciuria	PMID:16358215
Fanconi syndrome	PMID:20335586
Nephrolithiasis	PMID:22396660
Chronic kidney disease	PMID:20383146
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R