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Protein Ontology report - voltage-gated potassium channel subunit KCNQ4
PR:000000731 -
http://purl.obolibrary.org/obo/PR_000000731
Protein Forms
Annotations
Ontology Information
Show OBO stanza
PRO ID
PR:000000731
PRO name
voltage-gated potassium channel subunit KCNQ4
Synonyms
PRO-Short-label
:
EXACT:
KCNQ4
Other
:
EXACT:
KQT-like 4 | potassium channel subunit alpha KvLQT4 | voltage-gated potassium channel subunit Kv7.4
Definition
"A voltage-gated potassium channel subunit KQT that is a translation product of the human KCNQ4 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
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Gene
1
Organism-Gene
2
Sequence
2
Organism-Sequence
8
Modification
0
Organism-Modification
0
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
PIRSF:PIRSF500967
;
IUPHARobj:563
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Protein Forms
Switch to
Extended View
Category
PRO Form Name
Ann.
Has Annotation?
Comp.
In Complex?
gene
PR:000000731
voltage-gated potassium channel subunit KCNQ4, KCNQ4
organism-gene
PR:P56696
potassium voltage-gated channel subfamily KQT member 4 (human), hKCNQ4
organism-sequence
PR:000000920
voltage-gated potassium channel subunit KCNQ4 sequence variant G285C (human), hKCNQ4/var:G285C
Yes
organism-sequence
PR:000000921
voltage-gated potassium channel subunit KCNQ4 sequence variant L274H (human), hKCNQ4/var:L274H
Yes
organism-sequence
PR:000000922
voltage-gated potassium channel subunit KCNQ4 sequence variant G285S (human), hKCNQ4/var:G285S
Yes
organism-sequence
PR:000000923
voltage-gated potassium channel subunit KCNQ4 sequence variant L281S (human), hKCNQ4/var:L281S
Yes
organism-sequence
PR:000000924
voltage-gated potassium channel subunit KCNQ4 sequence variant W276S (human), hKCNQ4/var:W276S
Yes
organism-sequence
PR:000000925
voltage-gated potassium channel subunit KCNQ4 sequence variant G321S (human), hKCNQ4/var:G321S
Yes
organism-sequence
PR:P56696-1
potassium voltage-gated channel subfamily KQT member 4 isoform 1 (human), hKCNQ4/iso:1
organism-sequence
PR:P56696-2
potassium voltage-gated channel subfamily KQT member 4 isoform 2 (human), hKCNQ4/iso:2
organism-gene
PR:Q9JK97
potassium voltage-gated channel subfamily KQT member 4 (mouse), mKCNQ4
Yes
sequence
PR:000000918
voltage-gated potassium channel subunit KCNQ4 isoform 1, KCNQ4/iso:1
organism-sequence
PR:P56696-1
potassium voltage-gated channel subfamily KQT member 4 isoform 1 (human), hKCNQ4/iso:1
sequence
PR:000000919
voltage-gated potassium channel subunit KCNQ4 isoform 2, KCNQ4/iso:2
organism-sequence
PR:P56696-2
potassium voltage-gated channel subfamily KQT member 4 isoform 2 (human), hKCNQ4/iso:2
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Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000920
hKCNQ4/var:G285C
UniProtKB:P56696, Gly-285, CHEBI:29950 | UniProtKB:P56696-1, Gly-285, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ4 sequence variant 1 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Cys residue at the position equivalent to Gly-285 of the amino acid sequence represented by UniProtKB:P56696-1. This variation is at the first Gly in the conserved selectivity filter sequence GYGD within the pore region. Example: UniProtKB:P56696-1, Gly-285, CHEBI:29950." [PMID:10369879, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10369879
enables
altered
GO:0005249
voltage-gated potassium channel activity
relative to
PR:000000918
KCNQ4/iso:1
PMID:10369879
PR:000000921
hKCNQ4/var:L274H
UniProtKB:P56696, Leu-274, CHEBI:29979 | UniProtKB:P56696-1, Leu-274, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ4 sequence variant 2 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a His residue at the position equivalent to Leu-274 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Leu-274, CHEBI:29979." [PMID:10925378, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10925378
PR:000000922
hKCNQ4/var:G285S
UniProtKB:P56696, Gly-285, CHEBI:29999 | UniProtKB:P56696-1, Gly-285, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 3 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Gly-285 of the amino acid sequence represented by UniProtKB:P56696-1. This variation is at the first Gly in the conserved selectivity filter sequence GYGD within the pore region. Example: UniProtKB:P56696-1, Gly-285, CHEBI:29999." [PMID:10025409, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10025409
enables
altered
GO:0005249
voltage-gated potassium channel activity
relative to
PR:000000918
KCNQ4/iso:1
PMID:10025409
PR:000000923
hKCNQ4/var:L281S
UniProtKB:P56696, Leu-281, CHEBI:29999 | UniProtKB:P56696-1, Leu-281, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 4 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Leu-281 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Leu-281, CHEBI:29999." [PMID:10571947, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10571947
PR:000000924
hKCNQ4/var:W276S
UniProtKB:P56696, Trp-276, CHEBI:29999 | UniProtKB:P56696-1, Trp-276, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 5 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Trp-276 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Trp-276, CHEBI:29999." [PMID:10369879, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10369879
PR:000000925
hKCNQ4/var:G321S
UniProtKB:P56696, Gly-321, CHEBI:29999 | UniProtKB:P56696-1, Gly-321, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 6 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Gly-321 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Gly-321, CHEBI:29999." [PMID:10369879, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10369879
PR:Q9JK97
mKCNQ4
Kcnq4 | KQT-like 4 (mouse) | potassium channel subunit alpha KvLQT4 (mouse) | voltage-gated potassium channel subunit Kv7.4 (mouse)
"A voltage-gated potassium channel subunit KCNQ4 that is encoded in the genome of mouse." [OMA:Q9JK97, PRO:DNx]
acts_upstream_of_or_within
GO:0007605
sensory perception of sound
PMID:16437162
GO:0042472
inner ear morphogenesis
PMID:16437162
