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Protein Ontology Report - KCNQ1

PR:000000728 - http://purl.obolibrary.org/obo/PR_000000728
Ontology Information
PRO ID PR:000000728 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1
Synonyms
PRO-short-label: KCNQ1
EXACT: IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; KQT-like 1; voltage-gated potassium channel subunit Kv7.1
Gene-based: KCNA8; KCNA9; KVLQT1
Definition A voltage-gated potassium channel subunit KQT that is a translation product of the human KCNQ1 gene or a 1:1 ortholog thereof. [PRO:CNA]
PRO Category gene
Parent PR:000000684 voltage-gated potassium channel subunit KQT
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 3
sequence 2 organism-sequence 78
modification 1 organism-modification 0
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000888
hKCNQ1/var:G216R
Gly-216, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9272155
PR:000000889
hKCNQ1/var:V417M
Val-417, CHEBI:16044 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000880
hKCNQ1/var:Y281C
Tyr-281, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9927399
PR:000000881
hKCNQ1/var:P320A
Pro-320, CHEBI:46217 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000882
hKCNQ1/var:F157C
Phe-157, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220146
PR:000000883
hKCNQ1/var:L353P
Leu-353, CHEBI:50342 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9693036
PR:000000884
hKCNQ1/var:G325R
Gly-325, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9024139
PR:000000885
hKCNQ1/var:W392R
Trp-392, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144
PR:000000886
hKCNQ1/var:G269D
Gly-269, CHEBI:29958 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000887
hKCNQ1/var:G589D
Gly-589, CHEBI:29958 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:P51787-1
hKCNQ1/iso:1
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:9312006
PR:000000848
hKCNQ1/var:D242N
Asp-242, CHEBI:50347 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000849
hKCNQ1/var:L342F
Leu-342, CHEBI:29997 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000844
hKCNQ1/var:A344V
Ala-344, CHEBI:30015 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000845
hKCNQ1/var:A525T
Ala-525, CHEBI:30013 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10482963, PMID:10704188
PR:000000846
hKCNQ1/var:A341E
Ala-341, CHEBI:29972 		associated_with_disease_progression MP:0003233 prolonged QT interval PMID:15498462
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000847
hKCNQ1/var:R583C
Arg-583, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000840
hKCNQ1/var:L250H
Leu-250, CHEBI:29979 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000841
hKCNQ1/var:S349W
Ser-349, CHEBI:29954 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000842
hKCNQ1/var:T391I
Thr-391, CHEBI:30009 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000843
hKCNQ1/var:K318N
Lys-318, CHEBI:50347 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9693036
PR:000000836
hKCNQ1/var:E261D
Glu-261, CHEBI:29958 		associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:10704188
PR:000000890
hKCNQ1/var:T312I
Thr-312, CHEBI:30009 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658, PMID:9323054
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10409658, PMID:9323054
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:10409658, PMID:9323054
PR:000000817
hKCNQ1/var:T587M
Thr-587, CHEBI:16044 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10024302, PMID:10704188
PR:000000859
hKCNQ1/var:G345E
Gly-345, CHEBI:29972 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000858
hKCNQ1/var:Y184S
Tyr-184, CHEBI:29999 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144
PR:000000857
hKCNQ1/var:A194P
Ala-194, CHEBI:50342 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000856
hKCNQ1/var:R174H
Arg-174, CHEBI:29979 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10367071
PR:000000819
hKCNQ1/var:R243C
Arg-243, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658, PMID:10704188
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10409658
PR:000000854
hKCNQ1/var:R539W
Arg-539, CHEBI:29954 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423
part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423
PR:000000853
hKCNQ1/var:R555C
Arg-555, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000852
hKCNQ1/var:G269S
Gly-269, CHEBI:29999 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000851
hKCNQ1/var:S140G
Ser-140, CHEBI:29947 		associated_with_disease_progression DOID:0050650 familial atrial fibrillation PMID:12522251
capable_of GO:0005267 potassium channel activity increased relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:12522251
has_agent SO:0001557 polypeptide_gain_of_function_variant PMID:12522251
PR:000000850
hKCNQ1/var:G306R
Gly-306, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000855
hKCNQ1/var:Y315S
Tyr-315, CHEBI:29999 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144, PMID:10704188
PR:000000818
hKCNQ1/var:S373P
Ser-373, CHEBI:50342 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144, PMID:10704188
PR:000000828
hKCNQ1/var:P448R
Pro-448, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000829
hKCNQ1/var:T309R
Thr-309, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000826
hKCNQ1/var:A178T
Ala-178, CHEBI:30013 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9024139
PR:000000827
hKCNQ1/var:G189R
Gly-189, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144, PMID:10704188
PR:000000824
hKCNQ1/var:S225L
Ser-225, CHEBI:30006 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9927399
PR:000000825
hKCNQ1/var:A178P
Ala-178, CHEBI:50342 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9323054
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10704188, PMID:9323054
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:9323054
PR:000000822
hKCNQ1/var:S566F
Ser-566, CHEBI:29997 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000823
hKCNQ1/var:Y315C
Tyr-315, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9693036, PMID:9927399
PR:000000820
hKCNQ1/var:D317N
Asp-317, CHEBI:50347 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9302275, PMID:9482580
PR:000000821
hKCNQ1/var:V310I
Val-310, CHEBI:30009 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000868
hKCNQ1/var:G345R
Gly-345, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144
PR:000000869
hKCNQ1/var:E261K
Glu-261, CHEBI:29967 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:8900283
part_of NOT GO:0008076 voltage-gated potassium channel complex PMID:8900283
PR:000000862
hKCNQ1/var:G314S
Gly-314, CHEBI:29999 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:8872472, PMID:9693036
PR:000000863
hKCNQ1/var:W248R
Trp-248, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10409658
has_agent SO:0001561 polypeptide_partial_loss_of_function PMID:10409658
part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423
PR:000000860
hKCNQ1/var:R190Q
Arg-190, CHEBI:30011 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:10704188, PMID:9482580
part_of NOT GO:0008076 voltage-gated potassium channel complex PMID:10728423
PR:000000861
hKCNQ1/var:T311I
Thr-311, CHEBI:30009 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9482580
PR:000000866
hKCNQ1/var:E160K
Glu-160, CHEBI:29967 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000867
hKCNQ1/var:V254M
Val-254, CHEBI:16044 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000864
hKCNQ1/var:R366P
Arg-366, CHEBI:50342 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9024139
PR:000000865
hKCNQ1/var:R366Q
Arg-366, CHEBI:30011 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000839
hKCNQ1/var:A341V
Ala-341, CHEBI:30015 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:8818942, PMID:8872472, PMID:9570196
PR:000000838
hKCNQ1/var:29
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10511610
PR:000000831
hKCNQ1/var:R366W
Arg-366, CHEBI:29954 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9693036
PR:000000830
hKCNQ1/var:R591H
Arg-591, CHEBI:29979 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10024302, PMID:10704188
PR:000000833
hKCNQ1/var:Y111C
Tyr-111, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000832
hKCNQ1/var:I313M
Ile-313, CHEBI:16044 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9024139
PR:000000835
hKCNQ1/var:G168R
Gly-168, CHEBI:29952 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9693036
PR:000000834
hKCNQ1/var:R533W
Arg-533, CHEBI:29954 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10704188, PMID:10728423
PR:000000837
hKCNQ1/var:A371T
Ala-371, CHEBI:30013 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:P51787-2
hKCNQ1/iso:2
capable_of GO:0043267 negative regulation of potassium ion transport PMID:9305853
PR:000000875
hKCNQ1/var:R174C
Arg-174, CHEBI:29950 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000874
hKCNQ1/var:A300T
Ala-300, CHEBI:30013 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9641694
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:9641694
PR:000000877
hKCNQ1/var:L266P
Leu-266, CHEBI:50342 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188
PR:000000876
hKCNQ1/var:W305S
Trp-305, CHEBI:29999 		associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:9781056
PR:000000871
hKCNQ1/var:F339del
associated_with_disease_progression DOID:2843 long QT syndrome PMID:15159330
PR:000000870
hKCNQ1/var:V307L
Val-307, CHEBI:30006 		associated_with_disease_progression DOID:0050793 short QT syndrome PMID:15159330
capable_of GO:0005267 potassium channel activity increased relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:15159330
has_agent SO:0001557 polypeptide_gain_of_function_variant PMID:15159330
PR:000000873
hKCNQ1/var:G179S
Gly-179, CHEBI:29999 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10728423
PR:000000872
hKCNQ1/var:R243H
Arg-243, CHEBI:29979 		associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423
part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423
PR:000000879
hKCNQ1/var:L273F
Leu-273, CHEBI:29997 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:9323054
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:9323054
has_agent SO:0001561 polypeptide_partial_loss_of_function PMID:9323054
PR:000000878
hKCNQ1/var:R594Q
Arg-594, CHEBI:30011 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188

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