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{{Infobox_gene}}
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'''Sodium-dependent phosphate transport protein 2C''' is a [[protein]] that in humans is encoded by the ''SLC34A3'' [[gene]].<ref name="pmid11880379">{{cite journal | vauthors = Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K | title = Growth-related renal type II Na/Pi cotransporter | journal = The Journal of Biological Chemistry | volume = 277 | issue = 22 | pages = 19665–72 | date = May 2002 | pmid = 11880379 | pmc =  | doi = 10.1074/jbc.M200943200 }}</ref><ref name="pmid16358215">{{cite journal | vauthors = Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM | title = Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3 | journal = American Journal of Human Genetics | volume = 78 | issue = 2 | pages = 193–201 | date = February 2006 | pmid = 16358215 | pmc = 1380229 | doi = 10.1086/499410 }}</ref><ref name="pmid16358214">{{cite journal | vauthors = Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H | title = SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis | journal = American Journal of Human Genetics | volume = 78 | issue = 2 | pages = 179–92 | date = February 2006 | pmid = 16358214 | pmc = 1380228 | doi = 10.1086/499409 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=142680| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Solute carrier family 34 (sodium phosphate), member 3
| HGNCid = 20305
| Symbol = SLC34A3
| AltSymbols =; FLJ38680; HHRH; NPTIIc
| OMIM = 609826
| ECnumber =
  | Homologene = 15444
| MGIid = 2159410
| Function = {{GNF_GO|id=GO:0005436 |text = sodium:phosphate symporter activity}}{{GNF_GO|id=GO:0015293 |text = symporter activity}}{{GNF_GO|id=GO:0015321 |text = sodium-dependent phosphate transmembrane transporter activity}}{{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0005903 |text = brush border}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0016324 |text = apical plasma membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}} {{GNF_GO|id=GO:0006817 |text = phosphate transport}} {{GNF_GO|id=GO:0030643 |text = cellular phosphate ion homeostasis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 142680
    | Hs_Ensembl =
    | Hs_RefseqProtein = XP_001133456
    | Hs_RefseqmRNA = XM_001133456
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr =
    | Hs_GenLoc_start =
    | Hs_GenLoc_end =
    | Hs_Uniprot =
    | Mm_EntrezGene = 142681
    | Mm_Ensembl = ENSMUSG00000006469
    | Mm_RefseqmRNA = NM_080854
    | Mm_RefseqProtein = NP_543130
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 25050906
    | Mm_GenLoc_end = 25056212
    | Mm_Uniprot = Q05AC3
  }}
}}
'''Solute carrier family 34 (sodium phosphate), member 3''', also known as '''SLC34A3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=142680| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
| section_title =  
| summary_text = SLC34A3 contributes to the maintenance of [[phosphate|inorganic phosphate]] concentration at the [[kidney]] (Segawa et al., 2002).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=142680| accessdate = }}</ref>
}}
Both NPT2a and SLC34A3 (NPT2c) are regulated in a similar fashion by parathyroid hormone (PTH), FGF23, and dietary phosphate.<ref name=Bergwitz>{{ cite journal |author=Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H |title=SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis |journal=Am J Hum Genet. |year=2006 |month=Feb |volume=78 |issue=2 |pages=179-92 |pmid=16358214 }}</ref> Phosphate deprivation increases NPT2a and NPT2c expression.<ref name=Bergwitz/> The relative expression of NPT2a is an order of magnitude higher than that of NPT2c in kidneys of organisms maintained on a normal phosphate diet.<ref name=Bergwitz/> Normal animals exhibit a more robust increase in NPT2c than in NPT2a in response to phosphate deprivation.<ref name=Bergwitz/> NPT2c is regulated by FGF23 and probably downregulated by PTH. As such SLC34A3 is involved in [[phosphate homeostasis]].


==See also==
SLC34A3 contributes to the maintenance of [[phosphate|inorganic phosphate]] concentration at the [[kidney]].<ref name="entrez" />
 
== Interactions ==
 
SLC34A3 has been shown to [[Protein-protein interaction|interact]] with [[PDZK1]].<ref name="pmid14531806">{{cite journal | vauthors = Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H | title = PDZK1: I. a major scaffolder in brush borders of proximal tubular cells | journal = Kidney International | volume = 64 | issue = 5 | pages = 1733–45 | date = November 2003 | pmid = 14531806 | doi = 10.1046/j.1523-1755.2003.00266.x }}</ref>
 
==Clinical Correlation==
A mutation in the SLC34A3 gene has been known to cause the [[dominance (genetics)|autosomal recessive]] condition hereditary [[autosomal dominant hypophosphatemic rickets|hypophophatemic rickets]] with [[hypercalciuria]]. This gene is correlated closely with [[SLC34A1]], an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of [[vitamin D|1,25-dihydroxyvitamin D]] (yields the hypercalcuria).<ref name="pmid16358215" />
 
== See also ==
* {{MeshName|SLC34A3+protein,+human}}
* {{MeshName|SLC34A3+protein,+human}}


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Forster IC, Hernando N, Biber J, Murer H | title = Proximal tubular handling of phosphate: A molecular perspective | journal = Kidney International | volume = 70 | issue = 9 | pages = 1548–59 | date = November 2006 | pmid = 16955105 | doi = 10.1038/sj.ki.5001813 }}
| citations =
* {{cite journal | vauthors = Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K | title = Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function | journal = Journal of Bone and Mineral Metabolism | volume = 25 | issue = 6 | pages = 407–13 | year = 2007 | pmid = 17968493 | doi = 10.1007/s00774-007-0776-6 }}
*{{cite journal | author=Forster IC, Hernando N, Biber J, Murer H |title=Proximal tubular handling of phosphate: A molecular perspective. |journal=Kidney Int. |volume=70 |issue= 9 |pages= 1548-59 |year= 2006 |pmid= 16955105 |doi= 10.1038/sj.ki.5001813 }}
* {{cite journal | vauthors = Ehnes C, Forster IC, Bacconi A, Kohler K, Biber J, Murer H | title = Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites | journal = The Journal of General Physiology | volume = 124 | issue = 5 | pages = 489–503 | date = November 2004 | pmid = 15504899 | pmc = 2234003 | doi = 10.1085/jgp.200409061 }}
*{{cite journal | author=Yamamoto T, Michigami T, Aranami F, ''et al.'' |title=Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. |journal=J. Bone Miner. Metab. |volume=25 |issue= 6 |pages= 407-13 |year= 2007 |pmid= 17968493 |doi= 10.1007/s00774-007-0776-6 }}
* {{cite journal | vauthors = Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H | title = PDZK1: I. a major scaffolder in brush borders of proximal tubular cells | journal = Kidney International | volume = 64 | issue = 5 | pages = 1733–45 | date = November 2003 | pmid = 14531806 | doi = 10.1046/j.1523-1755.2003.00266.x }}
*{{cite journal | author=Lorenz-Depiereux B, Benet-Pages A, Eckstein G, ''et al.'' |title=Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. |journal=Am. J. Hum. Genet. |volume=78 |issue= 2 |pages= 193-201 |year= 2007 |pmid= 16358215 |doi= 10.1086/499410 }}
*{{cite journal  | author=Bergwitz C, Roslin NM, Tieder M, ''et al.'' |title=SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. |journal=Am. J. Hum. Genet. |volume=78 |issue= 2 |pages= 179-92 |year= 2007 |pmid= 16358214 |doi= 10.1086/499409 }}
*{{cite journal  | author=Ehnes C, Forster IC, Bacconi A, ''et al.'' |title=Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites. |journal=J. Gen. Physiol. |volume=124 |issue= 5 |pages= 489-503 |year= 2005 |pmid= 15504899 |doi= 10.1085/jgp.200409061 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gisler SM, Pribanic S, Bacic D, ''et al.'' |title=PDZK1: I. a major scaffolder in brush borders of proximal tubular cells. |journal=Kidney Int. |volume=64 |issue= 5 |pages= 1733-45 |year= 2004 |pmid= 14531806 |doi= 10.1046/j.1523-1755.2003.00266.x }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Segawa H, Kaneko I, Takahashi A, ''et al.'' |title=Growth-related renal type II Na/Pi cotransporter. |journal=J. Biol. Chem. |volume=277 |issue= 22 |pages= 19665-72 |year= 2002 |pmid= 11880379 |doi= 10.1074/jbc.M200943200 }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
 
{{membrane-protein-stub}}

Latest revision as of 06:32, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.[1][2][3][4]

Function

SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.[4]

Interactions

SLC34A3 has been shown to interact with PDZK1.[5]

Clinical Correlation

A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophophatemic rickets with hypercalciuria. This gene is correlated closely with SLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of 1,25-dihydroxyvitamin D (yields the hypercalcuria).[2]

See also

References

  1. ↑ Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K (May 2002). "Growth-related renal type II Na/Pi cotransporter". The Journal of Biological Chemistry. 277 (22): 19665–72. doi:10.1074/jbc.M200943200. PMID 11880379.
  2. ↑ 2.0 2.1 Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (February 2006). "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3". American Journal of Human Genetics. 78 (2): 193–201. doi:10.1086/499410. PMC 1380229. PMID 16358215.
  3. ↑ Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (February 2006). "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis". American Journal of Human Genetics. 78 (2): 179–92. doi:10.1086/499409. PMC 1380228. PMID 16358214.
  4. ↑ 4.0 4.1 "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3".
  5. ↑ Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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