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Protein Page:
CLCN5 iso2 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
CLCN5 iso2 Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. Defects in CLCN5 are a cause of hypophosphatemic rickets, X-linked recessive (XLRHR). XLRHR is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. Defects in CLCN5 are the cause of nephrolithiasis type 2 (NPHL2); also known as Dent disease 1. NPHL2 is an X- linked recessive renal disease belonging to the 'Dent disease complex'. NPHL2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. Defects in CLCN5 are the cause of nephrolithiasis type 1 (NPHL1); also designated XRN. NPHL1 is an X-linked recessive renal disease belonging to the 'Dent disease complex'. NPHL1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. Defects in CLCN5 are the cause of low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN). LMWPHN is an X-linked renal disease belonging to the 'Dent disease complex'. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transporter; Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xp11.23-p11.22
Cellular Component: Golgi membrane; membrane; lysosomal membrane; apical part of cell; integral to plasma membrane; endosome membrane
Molecular Function: chloride channel activity; voltage-gated chloride channel activity; ATP binding; antiporter activity
Biological Process: transport; endocytosis; excretion; transmembrane transport
Reference #:  P51795-2 (UniProtKB)
Alt. Names/Synonyms: chloride channel 5; Chloride channel protein 5; Chloride transporter ClC-5; ClC-5; CLC5; CLCK2; CLCN5; DENTS; H(+)/Cl(-) exchange transporter 5; hCIC-K2; hClC-K2; NPHL1; NPHL2; XLRH; XRN
Gene Symbols: CLCN5
Molecular weight: 90,785 Da
Basal Isoelectric point: 5.81  Predict pI for various phosphorylation states
Select Structure to View Below

CLCN5 iso2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 - gap
0 1 - under review  
0 1 - gap
0 2 Y425-p RPAGVGVySAMWQLA
0 1 T442 LILKIVITIFTFGMK
0 1 K579-ub AKEEFAHkTLAMDVM
0 1 K649 ISIENARKKQDGVVS
0 1 K650 SIENARKKQDGVVST
0 1 K678 PYTPPTLKLRNILDL
  CLCN5 iso2  
K57-ub DREVGEDksYNGGGI
S58-p REVGEDksYNGGGIG
S66-p YNGGGIGsSNRIMDF
Y495 RPAGVGVYSAMWQLA
T512 LILKIVITIFTFGMK
K649 AKEEFAHKTLAMDVM
K719 ISIENARKKQDGVVS
K720 SIENARKKQDGVVST
K748 PYTPPTLKLRNILDL
  mouse

 
- gap
- under review  
- gap
Y425 RPAGVGIYSAMWQLA
T442-p LILKIVItIFTFGMK
K579 AKEEFAHKTLAMDVM
K649-ac ISIENARkkQDGVVS
K650-ac SIENARkkQDGVVST
K678-ac PYTPPTLkLRNILDL
  rat

 
- gap
- under review  
- gap
Y425 RPAGVGVYSAMWQLA
T442 LILKIVITIFTFGMK
K579 AKEEFAHKTLAMDVM
K649 ISIENARKKQDGVVS
K650 SIENARKKQDGVVST
K678 PYTPPTLKLRNILDL
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