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Q8N130 (NPT2C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC34A3
Synonyms:NPT2C, NPTIIC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length599 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Multi-pass membrane protein.

Involvement in disease

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. Ref.4 Ref.5

Miscellaneous

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

Sequence similarities

Belongs to the SLC34A transporter family.

Biophysicochemical properties

Kinetic parameters:

KM=79 µM for phosphate Ref.1

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 599599Sodium-dependent phosphate transport protein 2C
PRO_0000068617

Regions

Topological domain1 – 7676Cytoplasmic Potential
Transmembrane77 – 9721Helical; Name=M1; Potential
Topological domain98 – 11114Extracellular Potential
Transmembrane112 – 13221Helical; Name=M2; Potential
Topological domain133 – 18856Cytoplasmic Potential
Transmembrane189 – 20921Helical; Name=M3; Potential
Topological domain210 – 322113Extracellular Potential
Transmembrane323 – 34321Helical; Name=M4; Potential
Topological domain344 – 36724Cytoplasmic Potential
Transmembrane368 – 38821Helical; Name=M5; Potential
Topological domain389 – 44557Extracellular Potential
Transmembrane446 – 46621Helical; Name=M6; Potential
Topological domain467 – 48519Cytoplasmic Potential
Transmembrane486 – 50621Helical; Name=M7; Potential
Topological domain507 – 5104Extracellular Potential
Transmembrane511 – 53121Helical; Name=M8; Potential
Topological domain532 – 59968Cytoplasmic Potential
Compositional bias424 – 4274Poly-Thr

Amino acid modifications

Glycosylation2651N-linked (GlcNAc...) Potential
Glycosylation2681N-linked (GlcNAc...) Potential
Glycosylation2861N-linked (GlcNAc...) Potential
Glycosylation2991N-linked (GlcNAc...) Potential
Disulfide bond276 ↔ 309 By similarity

Natural variations

Natural variant671R → H. Ref.5
Corresponds to variant rs34372115 [ dbSNP | Ensembl ].
VAR_025706
Natural variant1381S → F in HHRH. Ref.4
VAR_025707
Natural variant1801G → A. Ref.5
Corresponds to variant rs35643193 [ dbSNP | Ensembl ].
VAR_025708
Natural variant1921S → L in HHRH. Ref.4 Ref.5
VAR_025709
Natural variant1961G → R in HHRH. Ref.4
VAR_025710
Natural variant2371D → N. Ref.5
Corresponds to variant rs145877051 [ dbSNP | Ensembl ].
VAR_025711
Natural variant3371G → S. Ref.5
Corresponds to variant rs35699762 [ dbSNP | Ensembl ].
VAR_025712
Natural variant3531R → L in HHRH. Ref.5
VAR_025713
Natural variant4131A → E in HHRH. Ref.5
VAR_025714
Natural variant4681R → W in HHRH. Ref.4
VAR_025715
Natural variant5131E → V. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs28542318 [ dbSNP | Ensembl ].
VAR_025716

Sequences

Sequence LengthMass (Da)Tools
Q8N130 [UniParc].

Last modified November 30, 2010. Version 2.
Checksum: 3747DE33D0A53E95

FASTA59963,550
        10         20         30         40         50         60 
MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL KDTSQPWKEL 

        70         80         90        100        110        120 
RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL GSKVAGDIFK DNVVLSNPVA 

       130        140        150        160        170        180 
GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL LTVRVSVPII MGVNVGTSIT STLVSMAQSG 

       190        200        210        220        230        240 
DRDEFQRAFS GSAVHGIFNW LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK 

       250        260        270        280        290        300 
VLTKPLTHLI VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS 

       310        320        330        340        350        360 
TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL RGRVAQVVRT 

       370        380        390        400        410        420 
VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV PLMGVGVISL DRAYPLLLGS 

       430        440        450        460        470        480 
NIGTTTTALL AALASPADRM LSALQVALIH FFFNLAGILL WYLVPALRLP IPLARHFGVV 

       490        500        510        520        530        540 
TARYRWVAGV YLLLGFLLLP LAAFGLSLAG GMELAAVGGP LVGLVLLVIL VTVLQRRRPA 

       550        560        570        580        590 
WLPVRLRSWA WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL 

« Hide

References

« Hide 'large scale' references
[1]"Growth-related renal type II Na/Pi cotransporter."
Segawa H., Kaneko I., Takahashi A., Kuwahata M., Ito M., Ohkido I., Tatsumi S., Miyamoto K.
J. Biol. Chem. 277:19665-19672(2002) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB055000 mRNA. Translation: BAB83242.1.
AK095999 mRNA. Translation: BAC04667.1.
BX255925 Genomic DNA. Translation: CAM24147.1.
CCDSCCDS7038.1.
RefSeqNP_001170787.1. NM_001177316.1.
NP_001170788.1. NM_001177317.1.
NP_543153.1. NM_080877.2.
UniGeneHs.432442.

3D structure databases

ProteinModelPortalQ8N130.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126771. 2 interactions.
STRING9606.ENSP00000355353.

Protein family/group databases

TCDB2.A.58.1.3. the phosphate:na(+) symporter (pnas) family.

PTM databases

PhosphoSiteQ8N130.

Polymorphism databases

DMDM313104149.

Proteomic databases

PaxDbQ8N130.
PRIDEQ8N130.

Protocols and materials databases

DNASU142680.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361134; ENSP00000355353; ENSG00000198569.
ENST00000538474; ENSP00000442397; ENSG00000198569.
GeneID142680.
KEGGhsa:142680.
UCSCuc004cmf.1. human.

Organism-specific databases

CTD142680.
GeneCardsGC09P140125.
HGNCHGNC:20305. SLC34A3.
HPAHPA023776.
MIM241530. phenotype.
609826. gene.
neXtProtNX_Q8N130.
Orphanet157215. Hereditary hypophosphatemic rickets with hypercalciuria.
PharmGKBPA134930298.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1283.
HOGENOMHOG000006550.
HOVERGENHBG006527.
InParanoidQ8N130.
KOK14683.
OMALIKRWCG.
OrthoDBEOG72ZCDP.
PhylomeDBQ8N130.
TreeFamTF313981.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8N130.
BgeeQ8N130.
CleanExHS_SLC34A3.
GenevestigatorQ8N130.

Family and domain databases

InterProIPR003841. Na/Pi_transpt.
[Graphical view]
PfamPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
TIGRFAMsTIGR01013. 2a58. 1 hit.
ProtoNetSearch...

Other

GeneWikiSLC34A3.
GenomeRNAi142680.
NextBio84599.
PROQ8N130.
SOURCESearch...

Entry information

Entry nameNPT2C_HUMAN
AccessionPrimary (citable) accession number: Q8N130
Secondary accession number(s): A2BFA1
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM