Uniprot ID:P51795	Protein name: H(+)/Cl(-) exchange transporter 5	Gene : CLCN5 CLCK2
Protein Family:"Chloride channel (TC 2.A.49) family, ClC-5/CLCN5 subfamily"	Squence Length : 746

Sequnce	>P51795 747 MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN
Domains	DOMAIN 586 650 CBS 1 DOMAIN 682 742 CBS 2
CBS sequence regions	586 - 650 PRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQD 682 - 742 DLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSIL
Function	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
Motifs	MOTIF 167 171 Selectivity filter part_1. MOTIF 209 213 Selectivity filter part_2. MOTIF 453 457 Selectivity filter part_3
Binding Site	BINDING 168 168 Chloride. BINDING 455 455 Chloride. via amide nitrogen. BINDING 558 558 Chloride. BINDING 596 596 ATP. via amide nitrogen and carbonyl oxygen
Nucleotide Binding	NP_BIND 617 619 ATP. NP_BIND 724 727 ATP
Mutation	"211 211 E->A: Abolishes proton transport, but not chloride transport 617 617 Y->A: Strongly decreased affinity for ATP, but no effect on chloride transport 618 618 S->A: No effect ATP binding or chloride transport 672 672 Y->A: Abolishes interaction with NEDD4 and NEDD4L 727 727 D->A: Strongly decreased affinity for ATP, but no effect on chloride transport"
Disease	"DISEASE: Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Nephrolithiasis 2 (NPHL2) [MIM:300009]: An X-linked recessive 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 Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Nephrolithiasis 1 (NPHL1) [MIM:310468]: An X-linked recessive 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 Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency Patients lack urinary acidification defects, rickets, and osteomalacia Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]: An X-linked 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 LMWPHN is a slowly progressive disorder Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure Note=The disease is caused by mutations affecting the gene represented in this entry"

P51795 Proteins CBS domain Repeats