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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (2)   
   KEGG DRUG (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   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 (78)   

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