KEGG   Homo sapiens (human): 56479
Entry
56479             CDS       T01001                                 
Symbol
KCNQ5, Kv7.5, MRD46
Name
(RefSeq) potassium voltage-gated channel subfamily Q member 5
  KO
K04930  potassium voltage-gated channel KQT-like subfamily member 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
Disease
H00773  Autosomal dominant intellectual developmental disorder
Drug target
Flindokalner: D04192
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04725 Cholinergic synapse
    56479 (KCNQ5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    56479 (KCNQ5)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   56479 (KCNQ5)
SSDB
Motif
Pfam: KCNQ_channel Ion_trans Ion_trans_2
Other DBs
NCBI-GeneID: 56479
NCBI-ProteinID: NP_062816
OMIM: 607357
HGNC: 6299
Ensembl: ENSG00000185760
UniProt: Q9NR82
Structure
Position
6:72622064..73198853
AA seq 932 aa
MPRHHAGGEEGGAAGLWVKSGAAAAAAGGGRLGSGMKDVESGRGRVLLNSAAARGDGLLL
LGTRAATLGGGGGGLRESRRGKQGARMSLLGKPLSYTSSQSCRRNVKYRRVQNYLYNVLE
RPRGWAFIYHAFVFLLVFGCLILSVFSTIPEHTKLASSCLLILEFVMIVVFGLEFIIRIW
SAGCCCRYRGWQGRLRFARKPFCVIDTIVLIASIAVVSAKTQGNIFATSALRSLRFLQIL
RMVRMDRRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFSSFLVYLVEKDANKEFSTYAD
ALWWGTITLTTIGYGDKTPLTWLGRLLSAGFALLGISFFALPAGILGSGFALKVQEQHRQ
KHFEKRRNPAANLIQCVWRSYAADEKSVSIATWKPHLKALHTCSPTKKEQGEASSSQKLS
FKERVRMASPRGQSIKSRQASVGDRRSPSTDITAEGSPTKVQKSWSFNDRTRFRPSLRLK
SSQPKPVIDADTALGTDDVYDEKGCQCDVSVEDLTPPLKTVIRAIRIMKFHVAKRKFKET
LRPYDVKDVIEQYSAGHLDMLCRIKSLQTRVDQILGKGQITSDKKSREKITAEHETTDDL
SMLGRVVKVEKQVQSIESKLDCLLDIYQQVLRKGSASALALASFQIPPFECEQTSDYQSP
VDSKDLSGSAQNSGCLSRSTSANISRGLQFILTPNEFSAQTFYALSPTMHSQATQVPISQ
SDGSAVAATNTIANQINTAPKPAAPTTLQIPPPLPAIKHLPRPETLHPNPAGLQESISDV
TTCLVASKENVQVAQSNLTKDRSMRKSFDMGGETLLSVCPMVPKDLGKSLSVQNLIRSTE
ELNIQLSGSESSGSRGSQDFYPKWRESKLFITDEEVGPEETETDTFDAAPQPAREAAFAS
DSLRTGRSRSSQSICKAGESTDALSLPHVKLK
NT seq 2799 nt   +upstreamnt  +downstreamnt
atgccccgccaccacgcgggaggagaggagggcggcgccgccgggctctgggtgaagagc
ggcgcagcggcggcggcggcgggcggggggcgcttgggcagcggcatgaaggatgtggag
tccggccggggcagggtgctgctgaactcggcagccgccaggggcgacggcctgctactg
ctgggcacccgcgcggccacgctcggtggcggcggcggtggcctgagggagagccgccgg
ggcaagcagggggcccggatgagcctgctggggaagccgctctcttacacgagtagccag
agctgccggcgcaacgtcaagtaccggcgggtgcagaactacctgtacaacgtgctggag
agaccccgcggctgggcgttcatctaccacgctttcgtttttctccttgtctttggttgc
ttgattttgtcagtgttttctaccatccctgagcacacaaaattggcctcaagttgcctc
ttgatcctggagttcgtgatgattgtcgtctttggtttggagttcatcattcgaatctgg
tctgcgggttgctgttgtcgatatagaggatggcaaggaagactgaggtttgctcgaaag
cccttctgtgttatagataccattgttcttatcgcttcaatagcagttgtttctgcaaaa
actcagggtaatatttttgccacgtctgcactcagaagtctccgtttcctacagatcctc
cgcatggtgcgcatggaccgaaggggaggcacttggaaattactgggttcagtggtttat
gctcacagcaaggaattaatcacagcttggtacataggatttttggttcttattttttcg
tctttccttgtctatctggtggaaaaggatgccaataaagagttttctacatatgcagat
gctctctggtggggcacaattacattgacaactattggctatggagacaaaactccccta
acttggctgggaagattgctttctgcaggctttgcactccttggcatttctttctttgca
cttcctgccggcattcttggctcaggttttgcattaaaagtacaagaacaacaccgccag
aaacactttgagaaaagaaggaacccagctgccaacctcattcagtgtgtttggcgtagt
tacgcagctgatgagaaatctgtttccattgcaacctggaagccacacttgaaggccttg
cacacctgcagccctaccaagaaagaacaaggggaagcatcaagcagtcagaagctaagt
tttaaggagcgagtgcgcatggctagccccaggggccagagtattaagagccgacaagcc
tcagtaggtgacaggaggtccccaagcaccgacatcacagccgagggcagtcccaccaaa
gtgcagaagagctggagcttcaacgaccgaacccgcttccggccctcgctgcgcctcaaa
agttctcagccaaaaccagtgatagatgctgacacagcccttggcactgatgatgtatat
gatgaaaaaggatgccagtgtgatgtatcagtggaagacctcaccccaccacttaaaact
gtcattcgagctatcagaattatgaaatttcatgttgcaaaacggaagtttaaggaaaca
ttacgtccatatgatgtaaaagatgtcattgaacaatattctgctggtcatctggacatg
ttgtgtagaattaaaagccttcaaacacgtgttgatcaaattcttggaaaagggcaaatc
acatcagataagaagagccgagagaaaataacagcagaacatgagaccacagacgatctc
agtatgctcggtcgggtggtcaaggttgaaaaacaggtacagtccatagaatccaagctg
gactgcctactagacatctatcaacaggtccttcggaaaggctctgcctcagccctcgct
ttggcttcattccagatcccaccttttgaatgtgaacagacatctgactatcaaagccct
gtggatagcaaagatctttcgggttccgcacaaaacagtggctgcttatccagatcaact
agtgccaacatctcgagaggcctgcagttcattctgacgccaaatgagttcagtgcccag
actttctacgcgcttagccctactatgcacagtcaagcaacacaggtgccaattagtcaa
agcgatggctcagcagtggcagccaccaacaccattgcaaaccaaataaatacggcaccc
aagccagcagccccaacaactttacagatcccacctcctctcccagccatcaagcatctg
cccaggccagaaactctgcaccctaaccctgcaggcttacaggaaagcatttctgacgtc
accacctgccttgttgcctccaaggaaaatgttcaggttgcacagtcaaatctcaccaag
gaccgttctatgaggaaaagctttgacatgggaggagaaactctgttgtctgtctgtccc
atggtgccgaaggacttgggcaaatctttgtctgtgcaaaacctgatcaggtcgaccgag
gaactgaatatacaactttcagggagtgagtcaagtggctccagaggcagccaagatttt
taccccaaatggagggaatccaaattgtttataactgatgaagaggtgggtcccgaagag
acagagacagacacttttgatgccgcaccgcagcctgccagggaagctgcctttgcatca
gactctctaaggactggaaggtcacgatcatctcagagcatttgtaaggcaggagaaagt
acagatgccctcagcttgcctcatgtcaaactgaaataa

  All links  
Disease (2)   
   OMIM (2)   
Gene (12)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (37)   
   RefSeq(nuc) (13)   
   GenBank (12)   
   EMBL (12)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (70)   

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