KEGG T01001: 1184

Homo sapiens (human): 1184

Entry

1184              CDS       T01001

Symbol

CLCN5, CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2

Name

(RefSeq) H(+)/Cl(-) exchange transporter 5 isoform a

K05012

chloride channel 3/4/5

Organism

hsa Homo sapiens (human)

Pathway

hsa04613

Neutrophil extracellular trap formation

Disease

H00214

Hypophosphatemic rickets

H00694

Dent disease

H02142

X-linked recessive hypophosphatemic rickets

H02147

X-linked recessive nephrolithiasis with renal failure

H02148

Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis

H02149

X-linked hypercalciuric nephrolithiasis

Brite

KEGG Orthology (KO) [BR:hsa00001]
09150 Organismal Systems
  09151 Immune system
   04613 Neutrophil extracellular trap formation
    1184 (CLCN5)
09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1184 (CLCN5)
Ion channels [BR:hsa04040]
Chloride channels
  Chloride channel (CLC)
   1184 (CLCN5)

SSDB

Motif

Pfam:

Voltage_CLC CBS

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

Structure

LinkDB

Position

X:49922596..50099230

AA seq 816 aa
MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYN
GGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHS
VSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTF
EERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGI
PEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFN
KYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF
TLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT
QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTS
KGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLG
VGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTG
GLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRR
NDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKK
QDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQ
CLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN

NT seq 2451 nt +upstreamnt +downstreamnt
atggccatgtggcagggtgccatggataacagaggctttcagcaggggagttttagtagc
ttccagaacagctccagtgatgaagacctgatggacattccagcaaccgctatggatttc
tccatgagagatgatgttcctcccttagaccgagaagtaggagaggacaagtcgtacaat
ggtggaggaataggttcttcaaataggatcatggacttcttggaggagccaatccctggt
gtagggacctatgatgatttcaatacaattgattgggtgagagagaagtctcgagaccgg
gataggcaccgagagattaccaataaaagcaaagagtcaacatgggccttaattcacagt
gtgagtgatgctttttccggctggttgttgatgctccttattgggcttttatcaggttcg
ttagctggtttgatagacatctctgctcattggatgacagacttaaaagaaggtatatgc
acagggggattctggtttaaccatgaacattgttgctggaactctgagcatgtcaccttt
gaagagagagacaaatgtccagagtggaatagttggtcccagcttatcatcagcacagat
gagggagcctttgcctacatagtcaattatttcatgtacgtcctctgggctctcctattt
gccttccttgccgtatctcttgtcaaggtgtttgcgccttatgcctgtggctctggaatc
cctgagataaaaactatcttgagtggtttcattattaggggctatttgggtaagtggact
ctggttatcaaaaccatcaccttggtgctggcagtgtcatctggcttgagcctgggcaaa
gagggccctctagtgcacgtggcttgctgctgtgggaacatcctgtgccactgcttcaac
aaatacaggaagaatgaagccaagcgcagagaggtcttgtcggctgcagcagcagctggt
gtatctgtagcctttggagcacctataggtggagtattattcagccttgaagaggtcagc
tactattttcccctcaaaacattgtggcgttcattctttgctgccttggtggcagcattc
actctacgctccatcaatccatttgggaacagccgcctggtactattttatgtggagttt
cacaccccatggcatctctttgagctcgtgccattcattctgctgggcatatttggtggt
ctgtggggagcactgtttatccgcacaaacattgcctggtgtcggaagcgaaagaccacc
cagttgggcaagtatcctgttatagaggtactcgtcgtgacagccatcactgccatcctg
gctttccccaatgaatacactcggatgagcacaagtgagctcatttctgagctgtttaat
gactgtggccttctggactcctccaagctctgtgattatgagaaccgtttcaacacaagc
aaagggggtgaactgcctgacagaccggctggcgtgggagtctacagtgcaatgtggcag
ctggctttaacactcatactgaaaattgtcattactatattcacctttggcatgaagatc
ccttctggcctctttatccctagcatggctgttggtgctatagcaggtcgacttctagga
gtaggaatggaacagctggcttattaccaccaggaatggaccgtcttcaatagctggtgt
agtcagggagctgattgcatcacccccggcctttatgcaatggttggggctgcagcctgc
ttaggtggggtgactcggatgactgtttctcttgttgtcataatgtttgaactgactggt
ggcttagaatacatcgtgcctctgatggctgcagccatgacaagcaagtgggtggcagat
gctcttgggcgggagggcatctatgatgcccacatccgtctcaatggatacccctttctt
gaagccaaagaagagtttgctcataagaccctggcaatggatgtgatgaaaccccggaga
aatgatcctttgttgactgtccttactcaggacagtatgactgtggaagatgtagagacc
ataatcagtgaaaccacttacagtggcttcccagtggtggtatcccgggagtcccaaaga
cttgtgggctttgtcctccgaagagatctcattatttcaattgaaaatgctcgaaagaaa
caggatggggttgttagcacttccatcatttatttcacggagcattctcctccattgcca
ccatacactccacccactctaaagcttcggaacatcctcgatctcagccccttcactgtg
actgaccttacacccatggagatcgtagtggatattttccgaaagctgggactgcggcag
tgcctggttacacacaacgggcgattgcttggaatcattaccaaaaaggatgtgttaaag
catatagcacagatggcgaaccaagatcctgattccattctcttcaactag

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