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Q8N130

- NPT2C_HUMAN

UniProt

Q8N130 - NPT2C_HUMAN

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Protein

Sodium-dependent phosphate transport protein 2C

Gene

SLC34A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.

Kineticsi

  1. KM=79 µM for phosphate1 Publication

GO - Molecular functioni

  1. sodium:phosphate symporter activity Source: UniProtKB
  2. sodium-dependent phosphate transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. cellular phosphate ion homeostasis Source: UniProtKB
  2. ion transport Source: Reactome
  3. phosphate ion transmembrane transport Source: GOC
  4. phosphate ion transport Source: UniProtKB
  5. sodium ion transmembrane transport Source: GOC
  6. sodium ion transport Source: UniProtKB
  7. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_19411. Type II Na+/Pi cotransporters.

Protein family/group databases

TCDBi2.A.58.1.3. the phosphate:na(+) symporter (pnas) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent phosphate transport protein 2C
Short name:
Sodium-phosphate transport protein 2C
Alternative name(s):
Na(+)-dependent phosphate cotransporter 2C
Sodium/inorganic phosphate cotransporter IIC
Sodium/phosphate cotransporter 2C
Short name:
Na(+)/Pi cotransporter 2C
Short name:
NaPi-2c
Solute carrier family 34 member 3
Gene namesi
Name:SLC34A3
Synonyms:NPT2C, NPTIIC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:20305. SLC34A3.

Subcellular locationi

GO - Cellular componenti

  1. apical plasma membrane Source: HGNC
  2. brush border Source: Ensembl
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]: Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti138 – 1381S → F in HHRH. 1 Publication
VAR_025707
Natural varianti192 – 1921S → L in HHRH. 2 Publications
VAR_025709
Natural varianti196 – 1961G → R in HHRH. 1 Publication
VAR_025710
Natural varianti353 – 3531R → L in HHRH. 1 Publication
VAR_025713
Natural varianti413 – 4131A → E in HHRH. 1 Publication
VAR_025714
Natural varianti468 – 4681R → W in HHRH. 1 Publication
VAR_025715

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi241530. phenotype.
Orphaneti157215. Hereditary hypophosphatemic rickets with hypercalciuria.
PharmGKBiPA134930298.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 599599Sodium-dependent phosphate transport protein 2CPRO_0000068617Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence Analysis
Glycosylationi268 – 2681N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi276 ↔ 309By similarity
Glycosylationi286 – 2861N-linked (GlcNAc...)Sequence Analysis
Glycosylationi299 – 2991N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8N130.
PRIDEiQ8N130.

PTM databases

PhosphoSiteiQ8N130.

Expressioni

Gene expression databases

BgeeiQ8N130.
CleanExiHS_SLC34A3.
ExpressionAtlasiQ8N130. baseline and differential.
GenevestigatoriQ8N130.

Organism-specific databases

HPAiHPA023776.

Interactioni

Protein-protein interaction databases

BioGridi126771. 2 interactions.
STRINGi9606.ENSP00000355353.

Structurei

3D structure databases

ProteinModelPortaliQ8N130.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7676CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini98 – 11114ExtracellularSequence AnalysisAdd
BLAST
Topological domaini133 – 18856CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini210 – 322113ExtracellularSequence AnalysisAdd
BLAST
Topological domaini344 – 36724CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini389 – 44557ExtracellularSequence AnalysisAdd
BLAST
Topological domaini467 – 48519CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini507 – 5104ExtracellularSequence Analysis
Topological domaini532 – 59968CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei77 – 9721Helical; Name=M1Sequence AnalysisAdd
BLAST
Transmembranei112 – 13221Helical; Name=M2Sequence AnalysisAdd
BLAST
Transmembranei189 – 20921Helical; Name=M3Sequence AnalysisAdd
BLAST
Transmembranei323 – 34321Helical; Name=M4Sequence AnalysisAdd
BLAST
Transmembranei368 – 38821Helical; Name=M5Sequence AnalysisAdd
BLAST
Transmembranei446 – 46621Helical; Name=M6Sequence AnalysisAdd
BLAST
Transmembranei486 – 50621Helical; Name=M7Sequence AnalysisAdd
BLAST
Transmembranei511 – 53121Helical; Name=M8Sequence AnalysisAdd
BLAST

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi424 – 4274Poly-Thr

Sequence similaritiesi

Belongs to the SLC34A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1283.
GeneTreeiENSGT00390000005032.
HOGENOMiHOG000006550.
HOVERGENiHBG006527.
InParanoidiQ8N130.
KOiK14683.
OMAiLIKRWCG.
OrthoDBiEOG72ZCDP.
PhylomeDBiQ8N130.
TreeFamiTF313981.

Family and domain databases

InterProiIPR003841. Na/Pi_transpt.
[Graphical view]
PfamiPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
TIGRFAMsiTIGR01013. 2a58. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8N130-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL
60 70 80 90 100
KDTSQPWKEL RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL
110 120 130 140 150
GSKVAGDIFK DNVVLSNPVA GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL
160 170 180 190 200
LTVRVSVPII MGVNVGTSIT STLVSMAQSG DRDEFQRAFS GSAVHGIFNW
210 220 230 240 250
LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK VLTKPLTHLI
260 270 280 290 300
VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS
310 320 330 340 350
TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL
360 370 380 390 400
RGRVAQVVRT VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV
410 420 430 440 450
PLMGVGVISL DRAYPLLLGS NIGTTTTALL AALASPADRM LSALQVALIH
460 470 480 490 500
FFFNLAGILL WYLVPALRLP IPLARHFGVV TARYRWVAGV YLLLGFLLLP
510 520 530 540 550
LAAFGLSLAG GMELAAVGGP LVGLVLLVIL VTVLQRRRPA WLPVRLRSWA
560 570 580 590
WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL
Length:599
Mass (Da):63,550
Last modified:November 30, 2010 - v2
Checksum:i3747DE33D0A53E95
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671R → H.1 Publication
Corresponds to variant rs34372115 [ dbSNP | Ensembl ].
VAR_025706
Natural varianti138 – 1381S → F in HHRH. 1 Publication
VAR_025707
Natural varianti180 – 1801G → A.1 Publication
Corresponds to variant rs35643193 [ dbSNP | Ensembl ].
VAR_025708
Natural varianti192 – 1921S → L in HHRH. 2 Publications
VAR_025709
Natural varianti196 – 1961G → R in HHRH. 1 Publication
VAR_025710
Natural varianti237 – 2371D → N.1 Publication
Corresponds to variant rs145877051 [ dbSNP | Ensembl ].
VAR_025711
Natural varianti337 – 3371G → S.1 Publication
Corresponds to variant rs35699762 [ dbSNP | Ensembl ].
VAR_025712
Natural varianti353 – 3531R → L in HHRH. 1 Publication
VAR_025713
Natural varianti413 – 4131A → E in HHRH. 1 Publication
VAR_025714
Natural varianti468 – 4681R → W in HHRH. 1 Publication
VAR_025715
Natural varianti513 – 5131E → V.4 Publications
Corresponds to variant rs28542318 [ dbSNP | Ensembl ].
VAR_025716

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB055000 mRNA. Translation: BAB83242.1.
AK095999 mRNA. Translation: BAC04667.1.
BX255925 Genomic DNA. Translation: CAM24147.1.
CCDSiCCDS7038.1.
RefSeqiNP_001170787.1. NM_001177316.1.
NP_001170788.1. NM_001177317.1.
NP_543153.1. NM_080877.2.
UniGeneiHs.432442.

Genome annotation databases

EnsembliENST00000361134; ENSP00000355353; ENSG00000198569.
ENST00000538474; ENSP00000442397; ENSG00000198569.
GeneIDi142680.
KEGGihsa:142680.
UCSCiuc004cmf.1. human.

Polymorphism databases

DMDMi313104149.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB055000 mRNA. Translation: BAB83242.1 .
AK095999 mRNA. Translation: BAC04667.1 .
BX255925 Genomic DNA. Translation: CAM24147.1 .
CCDSi CCDS7038.1.
RefSeqi NP_001170787.1. NM_001177316.1.
NP_001170788.1. NM_001177317.1.
NP_543153.1. NM_080877.2.
UniGenei Hs.432442.

3D structure databases

ProteinModelPortali Q8N130.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126771. 2 interactions.
STRINGi 9606.ENSP00000355353.

Protein family/group databases

TCDBi 2.A.58.1.3. the phosphate:na(+) symporter (pnas) family.

PTM databases

PhosphoSitei Q8N130.

Polymorphism databases

DMDMi 313104149.

Proteomic databases

PaxDbi Q8N130.
PRIDEi Q8N130.

Protocols and materials databases

DNASUi 142680.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361134 ; ENSP00000355353 ; ENSG00000198569 .
ENST00000538474 ; ENSP00000442397 ; ENSG00000198569 .
GeneIDi 142680.
KEGGi hsa:142680.
UCSCi uc004cmf.1. human.

Organism-specific databases

CTDi 142680.
GeneCardsi GC09P140125.
HGNCi HGNC:20305. SLC34A3.
HPAi HPA023776.
MIMi 241530. phenotype.
609826. gene.
neXtProti NX_Q8N130.
Orphaneti 157215. Hereditary hypophosphatemic rickets with hypercalciuria.
PharmGKBi PA134930298.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1283.
GeneTreei ENSGT00390000005032.
HOGENOMi HOG000006550.
HOVERGENi HBG006527.
InParanoidi Q8N130.
KOi K14683.
OMAi LIKRWCG.
OrthoDBi EOG72ZCDP.
PhylomeDBi Q8N130.
TreeFami TF313981.

Enzyme and pathway databases

Reactomei REACT_19411. Type II Na+/Pi cotransporters.

Miscellaneous databases

GeneWikii SLC34A3.
GenomeRNAii 142680.
NextBioi 84599.
PROi Q8N130.
SOURCEi Search...

Gene expression databases

Bgeei Q8N130.
CleanExi HS_SLC34A3.
ExpressionAtlasi Q8N130. baseline and differential.
Genevestigatori Q8N130.

Family and domain databases

InterProi IPR003841. Na/Pi_transpt.
[Graphical view ]
Pfami PF02690. Na_Pi_cotrans. 2 hits.
[Graphical view ]
TIGRFAMsi TIGR01013. 2a58. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, BIOPHYSICOCHEMICAL PROPERTIES, VARIANT VAL-513.
    Tissue: Kidney.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-513.
    Tissue: Kidney.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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."
    Bergwitz C., Roslin N.M., Tieder M., Loredo-Osti J.C., Bastepe M., Abu-Zahra H., Frappier D., Burkett K., Carpenter T.O., Anderson D., Garabedian M., Sermet I., Fujiwara T.M., Morgan K., Tenenhouse H.S., Jueppner H.
    Am. J. Hum. Genet. 78:179-192(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHRH PHE-138; LEU-192; ARG-196 AND TRP-468, VARIANT VAL-513.
  5. "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3."
    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 T.M.
    Am. J. Hum. Genet. 78:193-201(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHRH LEU-192; LEU-353 AND GLU-413, VARIANTS HIS-67; ALA-180; ASN-237; SER-337 AND VAL-513.

Entry informationi

Entry nameiNPT2C_HUMAN
AccessioniPrimary (citable) accession number: Q8N130
Secondary accession number(s): A2BFA1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: November 30, 2010
Last modified: October 29, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

A 2:1 stoichiometry to Na+/Pi is observed at pH 7.4.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3