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Q8N130

- NPT2C_HUMAN

UniProt

Q8N130 - NPT2C_HUMAN

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Protein
Sodium-dependent phosphate transport protein 2C
Gene
SLC34A3, NPT2C, NPTIIC
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-dependent phosphate transmembrane transporter activity Source: UniProtKB
  2. sodium:phosphate symporter 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7676Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei77 – 9721Helical; Name=M1; Reviewed prediction
Add
BLAST
Topological domaini98 – 11114Extracellular Reviewed prediction
Add
BLAST
Transmembranei112 – 13221Helical; Name=M2; Reviewed prediction
Add
BLAST
Topological domaini133 – 18856Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei189 – 20921Helical; Name=M3; Reviewed prediction
Add
BLAST
Topological domaini210 – 322113Extracellular Reviewed prediction
Add
BLAST
Transmembranei323 – 34321Helical; Name=M4; Reviewed prediction
Add
BLAST
Topological domaini344 – 36724Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei368 – 38821Helical; Name=M5; Reviewed prediction
Add
BLAST
Topological domaini389 – 44557Extracellular Reviewed prediction
Add
BLAST
Transmembranei446 – 46621Helical; Name=M6; Reviewed prediction
Add
BLAST
Topological domaini467 – 48519Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei486 – 50621Helical; Name=M7; Reviewed prediction
Add
BLAST
Topological domaini507 – 5104Extracellular Reviewed prediction
Transmembranei511 – 53121Helical; Name=M8; Reviewed prediction
Add
BLAST
Topological domaini532 – 59968Cytoplasmic Reviewed prediction
Add
BLAST

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 2C
PRO_0000068617Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8N130.
PRIDEiQ8N130.

PTM databases

PhosphoSiteiQ8N130.

Expressioni

Gene expression databases

ArrayExpressiQ8N130.
BgeeiQ8N130.
CleanExiHS_SLC34A3.
GenevestigatoriQ8N130.

Organism-specific databases

HPAiHPA023776.

Interactioni

Protein-protein interaction databases

BioGridi126771. 2 interactions.
STRINGi9606.ENSP00000355353.

Structurei

3D structure databases

ProteinModelPortaliQ8N130.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1283.
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

MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL    50
KDTSQPWKEL RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL 100
GSKVAGDIFK DNVVLSNPVA GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL 150
LTVRVSVPII MGVNVGTSIT STLVSMAQSG DRDEFQRAFS GSAVHGIFNW 200
LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK VLTKPLTHLI 250
VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS 300
TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL 350
RGRVAQVVRT VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV 400
PLMGVGVISL DRAYPLLLGS NIGTTTTALL AALASPADRM LSALQVALIH 450
FFFNLAGILL WYLVPALRLP IPLARHFGVV TARYRWVAGV YLLLGFLLLP 500
LAAFGLSLAG GMELAAVGGP LVGLVLLVIL VTVLQRRRPA WLPVRLRSWA 550
WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL 599
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.
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

ArrayExpressi Q8N130.
Bgeei Q8N130.
CleanExi HS_SLC34A3.
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: September 3, 2014
This is version 89 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

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