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UniProtKB - Q8N130 (NPT2C_HUMAN)
Protein
Sodium-dependent phosphate transport protein 2C
Gene
SLC34A3
Organism
Homo sapiens (Human)
Status
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.
Miscellaneous
A 2:1 stoichiometry to Na+/Pi is observed at pH 7.4.
Kineticsi
- KM=79 µM for phosphate1 Publication
GO - Molecular functioni
- sodium:phosphate symporter activity Source: UniProtKB
GO - Biological processi
- cellular phosphate ion homeostasis Source: UniProtKB
- phosphate ion transport Source: UniProtKB
- sodium-dependent phosphate transport Source: GO_Central
- sodium ion transport Source: UniProtKB
Keywordsi
Biological process | Ion transport, Sodium transport, Symport, Transport |
Ligand | Sodium |
Enzyme and pathway databases
PathwayCommonsi | Q8N130 |
Reactomei | R-HSA-427589, Type II Na+/Pi cotransporters R-HSA-5619097, Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) |
SABIO-RKi | Q8N130 |
SignaLinki | Q8N130 |
Protein family/group databases
TCDBi | 2.A.58.1.3, the phosphate:na(+) symporter (pnas) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium-dependent phosphate transport protein 2CShort 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20305, SLC34A3 |
MIMi | 609826, gene |
neXtProti | NX_Q8N130 |
VEuPathDBi | HostDB:ENSG00000198569 |
Subcellular locationi
Other locations
Plasma Membrane
- apical plasma membrane Source: HGNC-UCL
- brush border membrane Source: InterPro
- plasma membrane Source: Reactome
Other locations
- brush border Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
- vesicle Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 76 | CytoplasmicSequence analysisAdd BLAST | 76 | |
Transmembranei | 77 – 97 | Helical; Name=M1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 98 – 111 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 112 – 132 | Helical; Name=M2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 133 – 188 | CytoplasmicSequence analysisAdd BLAST | 56 | |
Transmembranei | 189 – 209 | Helical; Name=M3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 210 – 322 | ExtracellularSequence analysisAdd BLAST | 113 | |
Transmembranei | 323 – 343 | Helical; Name=M4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 344 – 367 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 368 – 388 | Helical; Name=M5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 389 – 445 | ExtracellularSequence analysisAdd BLAST | 57 | |
Transmembranei | 446 – 466 | Helical; Name=M6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 467 – 485 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 486 – 506 | Helical; Name=M7Sequence analysisAdd BLAST | 21 | |
Topological domaini | 507 – 510 | ExtracellularSequence analysis | 4 | |
Transmembranei | 511 – 531 | Helical; Name=M8Sequence analysisAdd BLAST | 21 | |
Topological domaini | 532 – 599 | CytoplasmicSequence analysisAdd BLAST | 68 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025707 | 138 | S → F in HHRH. 1 PublicationCorresponds to variant dbSNP:rs141734934EnsemblClinVar. | 1 | |
Natural variantiVAR_025709 | 192 | S → L in HHRH. 2 PublicationsCorresponds to variant dbSNP:rs199690076EnsemblClinVar. | 1 | |
Natural variantiVAR_025710 | 196 | G → R in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918237EnsemblClinVar. | 1 | |
Natural variantiVAR_025713 | 353 | R → L in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918234EnsemblClinVar. | 1 | |
Natural variantiVAR_025714 | 413 | A → E in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918235EnsemblClinVar. | 1 | |
Natural variantiVAR_025715 | 468 | R → W in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918238EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 142680 |
MalaCardsi | SLC34A3 |
MIMi | 241530, phenotype |
OpenTargetsi | ENSG00000198569 |
Orphaneti | 157215, Hereditary hypophosphatemic rickets with hypercalciuria |
PharmGKBi | PA134930298 |
Miscellaneous databases
Pharosi | Q8N130, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295900 |
DrugBanki | DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB14502, Sodium phosphate, dibasic DB09449, Sodium phosphate, monobasic DB14503, Sodium phosphate, monobasic, unspecified form |
Genetic variation databases
BioMutai | SLC34A3 |
DMDMi | 313104149 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000068617 | 1 – 599 | Sodium-dependent phosphate transport protein 2CAdd BLAST | 599 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 4 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 265 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 268 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 276 ↔ 309 | By similarity | ||
Glycosylationi | 286 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 299 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q8N130 |
MassIVEi | Q8N130 |
PaxDbi | Q8N130 |
PeptideAtlasi | Q8N130 |
PRIDEi | Q8N130 |
ProteomicsDBi | 71531 |
PTM databases
GlyGeni | Q8N130, 4 sites |
iPTMneti | Q8N130 |
PhosphoSitePlusi | Q8N130 |
Expressioni
Gene expression databases
Bgeei | ENSG00000198569, Expressed in adult mammalian kidney and 85 other tissues |
Genevisiblei | Q8N130, HS |
Organism-specific databases
HPAi | ENSG00000198569, Tissue enhanced (intestine, kidney) |
Interactioni
Binary interactionsi
Q8N130
With | #Exp. | IntAct |
---|---|---|
CLRN1 [P58418] | 3 | EBI-17769653,EBI-17274839 |
GPX8 [Q8TED1] | 3 | EBI-17769653,EBI-11721746 |
TMEM167B [Q9NRX6] | 3 | EBI-17769653,EBI-17684533 |
TMEM234 [Q8WY98] | 3 | EBI-17769653,EBI-8642211 |
Protein-protein interaction databases
BioGRIDi | 126771, 7 interactors |
IntActi | Q8N130, 5 interactors |
STRINGi | 9606.ENSP00000442397 |
Chemistry databases
BindingDBi | Q8N130 |
Miscellaneous databases
RNActi | Q8N130, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q8N130 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Belongs to the SLC34A transporter family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QTG0, Eukaryota |
GeneTreei | ENSGT00950000183177 |
HOGENOMi | CLU_025063_0_0_1 |
InParanoidi | Q8N130 |
OMAi | HDAIPVM |
OrthoDBi | 976094at2759 |
PhylomeDBi | Q8N130 |
TreeFami | TF313981 |
Family and domain databases
InterProi | View protein in InterPro IPR003841, Na/Pi_transpt IPR029850, Na/Pi_transpt_2C |
PANTHERi | PTHR10010, PTHR10010, 1 hit PTHR10010:SF35, PTHR10010:SF35, 1 hit |
Pfami | View protein in Pfam PF02690, Na_Pi_cotrans, 2 hits |
TIGRFAMsi | TIGR01013, 2a58, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q8N130-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A669KB46 | A0A669KB46_HUMAN | Sodium-dependent phosphate transpor... | SLC34A3 | 144 | Annotation score: | ||
A0A669KB63 | A0A669KB63_HUMAN | Sodium-dependent phosphate transpor... | SLC34A3 | 353 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025706 | 67 | R → H1 PublicationCorresponds to variant dbSNP:rs34372115EnsemblClinVar. | 1 | |
Natural variantiVAR_025707 | 138 | S → F in HHRH. 1 PublicationCorresponds to variant dbSNP:rs141734934EnsemblClinVar. | 1 | |
Natural variantiVAR_025708 | 180 | G → A1 PublicationCorresponds to variant dbSNP:rs35643193EnsemblClinVar. | 1 | |
Natural variantiVAR_025709 | 192 | S → L in HHRH. 2 PublicationsCorresponds to variant dbSNP:rs199690076EnsemblClinVar. | 1 | |
Natural variantiVAR_025710 | 196 | G → R in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918237EnsemblClinVar. | 1 | |
Natural variantiVAR_025711 | 237 | D → N1 PublicationCorresponds to variant dbSNP:rs145877051EnsemblClinVar. | 1 | |
Natural variantiVAR_025712 | 337 | G → S1 PublicationCorresponds to variant dbSNP:rs35699762EnsemblClinVar. | 1 | |
Natural variantiVAR_025713 | 353 | R → L in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918234EnsemblClinVar. | 1 | |
Natural variantiVAR_025714 | 413 | A → E in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918235EnsemblClinVar. | 1 | |
Natural variantiVAR_025715 | 468 | R → W in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918238EnsemblClinVar. | 1 | |
Natural variantiVAR_025716 | 513 | E → V4 PublicationsCorresponds to variant dbSNP:rs28542318EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB055000 mRNA Translation: BAB83242.1 AK095999 mRNA Translation: BAC04667.1 BX255925 Genomic DNA No translation available. |
CCDSi | CCDS7038.1 |
RefSeqi | NP_001170787.1, NM_001177316.1 NP_001170788.1, NM_001177317.1 NP_543153.1, NM_080877.2 XP_016869781.1, XM_017014292.1 |
Genome annotation databases
Ensembli | ENST00000361134.2; ENSP00000355353.2; ENSG00000198569.10 ENST00000538474.5; ENSP00000442397.1; ENSG00000198569.10 ENST00000673835.1; ENSP00000501114.1; ENSG00000198569.10 |
GeneIDi | 142680 |
KEGGi | hsa:142680 |
MANE-Selecti | ENST00000673835.1; ENSP00000501114.1; NM_001177316.2; NP_001170787.2 |
UCSCi | uc004cmf.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB055000 mRNA Translation: BAB83242.1 AK095999 mRNA Translation: BAC04667.1 BX255925 Genomic DNA No translation available. |
CCDSi | CCDS7038.1 |
RefSeqi | NP_001170787.1, NM_001177316.1 NP_001170788.1, NM_001177317.1 NP_543153.1, NM_080877.2 XP_016869781.1, XM_017014292.1 |
3D structure databases
AlphaFoldDBi | Q8N130 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 126771, 7 interactors |
IntActi | Q8N130, 5 interactors |
STRINGi | 9606.ENSP00000442397 |
Chemistry databases
BindingDBi | Q8N130 |
ChEMBLi | CHEMBL4295900 |
DrugBanki | DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB14502, Sodium phosphate, dibasic DB09449, Sodium phosphate, monobasic DB14503, Sodium phosphate, monobasic, unspecified form |
Protein family/group databases
TCDBi | 2.A.58.1.3, the phosphate:na(+) symporter (pnas) family |
PTM databases
GlyGeni | Q8N130, 4 sites |
iPTMneti | Q8N130 |
PhosphoSitePlusi | Q8N130 |
Genetic variation databases
BioMutai | SLC34A3 |
DMDMi | 313104149 |
Proteomic databases
EPDi | Q8N130 |
MassIVEi | Q8N130 |
PaxDbi | Q8N130 |
PeptideAtlasi | Q8N130 |
PRIDEi | Q8N130 |
ProteomicsDBi | 71531 |
Protocols and materials databases
Antibodypediai | 18978, 129 antibodies from 21 providers |
DNASUi | 142680 |
Genome annotation databases
Ensembli | ENST00000361134.2; ENSP00000355353.2; ENSG00000198569.10 ENST00000538474.5; ENSP00000442397.1; ENSG00000198569.10 ENST00000673835.1; ENSP00000501114.1; ENSG00000198569.10 |
GeneIDi | 142680 |
KEGGi | hsa:142680 |
MANE-Selecti | ENST00000673835.1; ENSP00000501114.1; NM_001177316.2; NP_001170787.2 |
UCSCi | uc004cmf.1, human |
Organism-specific databases
CTDi | 142680 |
DisGeNETi | 142680 |
GeneCardsi | SLC34A3 |
HGNCi | HGNC:20305, SLC34A3 |
HPAi | ENSG00000198569, Tissue enhanced (intestine, kidney) |
MalaCardsi | SLC34A3 |
MIMi | 241530, phenotype 609826, gene |
neXtProti | NX_Q8N130 |
OpenTargetsi | ENSG00000198569 |
Orphaneti | 157215, Hereditary hypophosphatemic rickets with hypercalciuria |
PharmGKBi | PA134930298 |
VEuPathDBi | HostDB:ENSG00000198569 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTG0, Eukaryota |
GeneTreei | ENSGT00950000183177 |
HOGENOMi | CLU_025063_0_0_1 |
InParanoidi | Q8N130 |
OMAi | HDAIPVM |
OrthoDBi | 976094at2759 |
PhylomeDBi | Q8N130 |
TreeFami | TF313981 |
Enzyme and pathway databases
PathwayCommonsi | Q8N130 |
Reactomei | R-HSA-427589, Type II Na+/Pi cotransporters R-HSA-5619097, Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) |
SABIO-RKi | Q8N130 |
SignaLinki | Q8N130 |
Miscellaneous databases
BioGRID-ORCSi | 142680, 14 hits in 1069 CRISPR screens |
GeneWikii | SLC34A3 |
GenomeRNAii | 142680 |
Pharosi | Q8N130, Tbio |
PROi | PR:Q8N130 |
RNActi | Q8N130, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198569, Expressed in adult mammalian kidney and 85 other tissues |
Genevisiblei | Q8N130, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003841, Na/Pi_transpt IPR029850, Na/Pi_transpt_2C |
PANTHERi | PTHR10010, PTHR10010, 1 hit PTHR10010:SF35, PTHR10010:SF35, 1 hit |
Pfami | View protein in Pfam PF02690, Na_Pi_cotrans, 2 hits |
TIGRFAMsi | TIGR01013, 2a58, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NPT2C_HUMAN | |
Accessioni | Q8N130Primary (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: | May 25, 2022 | |
This is version 146 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families