KEGG   Homo sapiens (human): 53405
Entry
53405             CDS       T01001                                 
Symbol
CLIC5, DFNB102, DFNB103, MST130, MSTP130
Name
(RefSeq) chloride intracellular channel 5
  KO
K05025  chloride intracellular channel protein 5
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    53405 (CLIC5)
   04040 Ion channels [BR:hsa04040]
    53405 (CLIC5)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   53405 (CLIC5)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel, intracellular (CLIC)
   53405 (CLIC5)
SSDB
Motif
Pfam: CLIC-like_N GST_N_2 GST_N_3 GST_C_2 GST_C_3 GST_C GST_C_5 BT4734-like_N
Other DBs
NCBI-GeneID: 53405
NCBI-ProteinID: NP_001107558
OMIM: 607293
HGNC: 13517
Ensembl: ENSG00000112782
UniProt: Q9NZA1 Q53G01
Structure
Position
6:complement(45880827..46129819)
AA seq 410 aa
MNDEDYSTIYDTIQNERTYEVPDQPEENESPHYDDVHEYLRPENDLYATQLNTHEYDFVS
VYTIKGEETSLASVQSEDRGYLLPDEIYSELQEAHPGEPQEDRGISMEGLYSSTQDQQLC
AAELQENGSVMKEDLPSPSSFTIQHSKAFSTTKYSCYSDAEGLEEKEGAHMNPEIYLFVK
AGIDGESIGNCPFSQRLFMILWLKGVVFNVTTVDLKRKPADLHNLAPGTHPPFLTFNGDV
KTDVNKIEEFLEETLTPEKYPKLAAKHRESNTAGIDIFSKFSAYIKNTKQQNNAALERGL
TKALKKLDDYLNTPLPEEIDANTCGEDKGSRRKFLDGDELTLADCNLLPKLHVVKIVAKK
YRNYDIPAEMTGLWRYLKNAYARDEFTNTCAADSEIELAYADVAKRLSRS
NT seq 1233 nt   +upstreamnt  +downstreamnt
atgaatgacgaagactacagcaccatctatgacacaatccaaaatgagaggacgtatgag
gttccagaccagccagaagaaaatgaaagtccccattatgatgatgtccatgagtactta
aggccagaaaatgatttatatgccactcagctgaatacccatgagtatgattttgtgtca
gtctataccattaagggtgaagagaccagcttggcctctgtccagtcagaagacagaggc
tacctcctgcctgatgagatatactctgaactccaggaggctcatccaggtgagccccag
gaggacaggggcatctcaatggaagggttatattcatcaacccaggaccagcaactctgc
gcagcagaactccaggagaatgggagtgtgatgaaggaagatctgccttctccttcaagc
ttcaccattcagcacagtaaggccttctctaccaccaagtattcctgctattctgatgct
gaaggtttggaagaaaaggagggagctcacatgaaccctgagatttacctctttgtgaag
gctggaatcgatggagaaagcatcggcaactgtcctttctctcagcgcctcttcatgatc
ctctggctgaaaggagtcgtgttcaatgtcaccactgtggatctgaaaagaaagccagct
gacctgcacaacctagcccccggcacgcacccgcccttcctgaccttcaacggggacgtg
aagacagacgtcaataagatcgaggagttcctggaggagaccttgacccctgaaaagtac
cccaaactggctgcaaaacaccgggaatccaacacagcgggcatcgacatcttttccaag
ttttctgcctacatcaaaaataccaagcagcagaacaatgctgctcttgaaagaggccta
accaaggctctaaagaaattggatgactacctgaacacccctctaccagaggagattgac
gccaacacttgtggggaagacaaggggtcccggcgcaagttcctggatggggatgagctg
accctggctgactgcaatctgttgcccaagctccatgtggtcaagattgtggccaagaaa
taccgcaactatgatatcccggctgagatgacaggcctgtggcggtacctcaagaacgcc
tatgcccgtgatgagttcaccaacacctgtgcagctgacagtgagatcgagttggcctac
gctgatgtcgccaaacgcctcagccgatcctga

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