Signal Transduction Antibodies 3

Anti-CLCN5 Antibody (CAB5707)

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SKU:
CAB5707
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-CLCN5 Antibody
Antibody SKU:CAB5707
Antibody Size:20uL, 50uL, 100uL
Application:WB IF
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 637-816 of human CLCN5 (NP_001121370.1).
Application:WB IF
Recommended Dilution:WB 1:500 - 1:2000 IF 1:50 - 1:200
Reactivity:Human, Mouse
Positive Samples:SW480, U-937, HepG2, A673, NCI-H460, Mouse kidney, Mouse ovary, Mouse brain
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 637-816 of human CLCN5 (NP_001121370.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:YPFL EAKE EFAH KTLA MDVM KPRR NDPL LTVL TQDS MTVE DVET IISE TTYS GFPV VVSR ESQR LVGF VLRR DLII SIEN ARKK QDGV VSTS IIYF TEHS PPLP PYTP PTLK LRNI LDLS PFTV TDLT PMEI VVDI FRKL GLRQ CLVT HNGR LLGI ITKK DVLK HIAQ MANQ DPDS ILFN
Gene ID:1184
Uniprot:P51795
Cellular Location:Cell membrane, Endosome membrane, Golgi apparatus membrane, Multi-pass membrane protein
Calculated MW:83kDa/90kDa
Observed MW:100kDa
Synonyms:CLCN5, CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
Background:This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene.
UniProt Protein Function: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.
UniProt Protein Details:

Protein type:Transporter; Membrane protein, integral; Transporter, ion channel; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: Xp11.23-p11.22

Cellular Component: Golgi membrane; membrane; integral to plasma membrane; lysosomal membrane; apical part of cell; endosome membrane

Molecular Function:chloride channel activity; voltage-gated chloride channel activity; ATP binding; antiporter activity

Biological Process: transport; endocytosis; excretion; transmembrane transport

Disease: Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis; Nephrolithiasis, X-linked Recessive, With Renal Failure; Dent Disease 1; Hypophosphatemic Rickets, X-linked Recessive

NCBI Summary:This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
UniProt Code:P51795
NCBI GenInfo Identifier:1705908
NCBI Gene ID:1184
NCBI Accession:P51795.1
UniProt Secondary Accession:P51795,Q5JQD5, Q7RTN8, A1L475, B3KPN6,
UniProt Related Accession:P51795
Molecular Weight:746
NCBI Full Name:H(+)/Cl(-) exchange transporter 5
NCBI Synonym Full Names:chloride channel, voltage-sensitive 5
NCBI Official Symbol:CLCN5  
NCBI Official Synonym Symbols:XRN; CLC5; XLRH; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; hCIC-K2  
NCBI Protein Information:H(+)/Cl(-) exchange transporter 5; H(+)/Cl(-) exchange transporter 5; chloride transporter ClC-5; voltage-gated chloride ion channel CLCN5
UniProt Protein Name:H(+)/Cl(-) exchange transporter 5
UniProt Synonym Protein Names:Chloride channel protein 5; ClC-5; Chloride transporter ClC-5
Protein Family:H(+)/Cl(-) exchange transporter
UniProt Gene Name:CLCN5  
UniProt Entry Name:CLCN5_HUMAN
Anti-CLCN5 Antibody (CAB5707)Western blot analysis of extracts of various cell lines, using CLCN5 antibody (CAB5707) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
Anti-CLCN5 Antibody (CAB5707)Immunofluorescence analysis of U2OS cells using CLCN5 antibody (CAB5707). Blue: DAPI for nuclear staining.
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