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2.A.58.1.3
Renal Na+/phosphate electroneutral symporter, NPTIIc, NPT2a or NaPi-IIc; responsible for hypophosphatemic hypercalciuric nephrolithiasis associated with rickets (Stechman et al., 2007). Catalyzes 2Na+:1Pi symport (Ghezzi et al., 2009). Interacts functionally with CFTR (Bakouh et al., 2012). Also interacts with PDZ1 but not PDZ2 of NHERF1 (Mamonova et al. 2015).

Accession Number:Q8N130
Protein Name:NPTIIc
Length:599
Molecular Weight:63520.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate phosphate, Na+

Cross database links:

Genevestigator: Q8N130 Q8N130
eggNOG: prNOG08811 COG1283
HEGENOM: HBG444965 HOG000006550
RefSeq: NP_543153.1   
Entrez Gene ID: 142680   
Pfam: PF02690   
OMIM: 241530  phenotype
609826  gene
KEGG: hsa:142680    hsa:142680   

Gene Ontology

GO:0016324 C:apical plasma membrane
GO:0016021 C:integral to membrane
GO:0015321 F:sodium-dependent phosphate transmembrane tr...
GO:0005436 F:sodium:phosphate symporter activity
GO:0030643 P:cellular phosphate ion homeostasis
GO:0006817 P:phosphate transport
GO:0006814 P:sodium ion transport
GO:0031526 C:brush border membrane
GO:0031410 C:cytoplasmic vesicle
GO:0015321 F:sodium-dependent phosphate transmembrane transporter activity
GO:0032026 P:response to magnesium ion
GO:0031667 P:response to nutrient levels

References (10)

[1] “Growth-related renal type II Na/Pi cotransporter.”  Segawa H.et.al.   11880379
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “DNA sequence and analysis of human chromosome 9.”  Humphray S.J.et.al.   15164053
[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.et.al.   16358214
[5] “Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.”  Lorenz-Depiereux B.et.al.   16358215
[6] “Growth-related renal type II Na/Pi cotransporter.”  Segawa H.et.al.   11880379
[7] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[8] “DNA sequence and analysis of human chromosome 9.”  Humphray S.J.et.al.   15164053
[9] “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.et.al.   16358214
[10] “Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.”  Lorenz-Depiereux B.et.al.   16358215

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL KDTSQPWKEL 
61:	RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL GSKVAGDIFK DNVVLSNPVA 
121:	GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL LTVRVSVPII MGVNVGTSIT STLVSMAQSG 
181:	DRDEFQRAFS GSAVHGIFNW LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK 
241:	VLTKPLTHLI VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS 
301:	TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL RGRVAQVVRT 
361:	VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV PLMGVGVISL DRAYPLLLGS 
421:	NIGTTTTALL AALASPADRM LSALQVALIH FFFNLAGILL WYLVPALRLP IPLARHFGVV 
481:	TARYRWVAGV YLLLGFLLLP LAAFGLSLAG GMVLAAVGGP LVGLVLLVIL VTVLQRRRPA 
541:	WLPVRLRSWA WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL