SLC34A1
Identifiers
AliasesSLC34A1, NPT2, NPTIIa, solute carrier family 34 member 1, NaPi-2a, HCINF2, SLC17A2, SLC11, NAPI-3, FRTS2, NPHLOP1
External IDsOMIM: 182309 MGI: 1345284 HomoloGene: 20663 GeneCards: SLC34A1
Orthologs
SpeciesHumanMouse
Entrez

6569

20505

Ensembl

ENSG00000131183

ENSMUSG00000021490

UniProt

Q06495
Q7Z725

Q60825
Q9D2V6

RefSeq (mRNA)

NM_001167579
NM_003052

NM_011392

RefSeq (protein)

NP_001161051
NP_003043
NP_003043.3

NP_035522

Location (UCSC)Chr 5: 177.38 – 177.4 MbChr 13: 55.55 – 55.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium-dependent phosphate transport protein 2A, also known as Na+-Pi cotransporter 2a (NaPi-2a), is a protein in humans that is encoded by the SLC34A1 gene.[5] This gene encodes a member of the type II sodium-phosphate cotransporter family.

Function

The sodium/phosphate cotransporter is a protein found in the proximal tubule of the nephron. It is responsible for reabsorbing approximately 80% of the phosphate that has been filtered out at the glomerulus. The transporter moves hydrogen phosphate (HPO42−) into the cell along with 3 sodium ions. Alternatively it can move dihydrogen phosphate (H2PO4 along with 2 sodium ions. For both movements the net charge is +1. Once inside the cell hydrogen phosphate and dihydrogen phosphate may react with water to form each other. Transport of these chemicals out of the cell at the basolateral surface is not understood currently.[6]

The NaPi channels are regulated by parathyroid hormone (PTH). PTH acts to decrease phosphate reabsorption from the renal filtrate and therefore promote its excretion into the urine. It does this by causing for endocytosis of NaPi transporters on the apical surface of the cell. With less transporter available more phosphate is lost in the urine.[6]

Clinical significance

Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1.[5]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000131183 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021490 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: Solute carrier family 34 (sodium phosphate), member 1".
  6. 1 2 Boron WF, Boulpaep EL (2012). Medical Physiology: a cellular and molecular approach (2 ed.). Philadelphia: Saunders. ISBN 978-1-4377-1753-2.

Further reading

  • Tenenhouse HS (February 1999). "X-linked hypophosphataemia: a homologous disorder in humans and mice". Nephrology, Dialysis, Transplantation. 14 (2): 333–41. doi:10.1093/ndt/14.2.333. PMID 10069185.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.