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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human)
PR:000000836 -
http://purl.obolibrary.org/obo/PR_000000836
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000836
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:E261D
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Glu-261,
CHEBI:29958
NARROW:
UniProtKB:P51787-1
, Glu-261,
CHEBI:29958
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 27 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Glu-261 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Glu-261,
CHEBI:29958
." [
PMID:10704188
, PRO:CNA, PRO:DAN,
UniProtKB:P51787
]
Comment
Note: This residue is located at the end of the intracellular loop connecting segments S4 and S5.
PRO Category
organism-sequence
Parent
PR:P51787
potassium voltage-gated channel subfamily KQT member 1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_008944
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000836
hKCNQ1/var:E261D
UniProtKB:P51787, Glu-261, CHEBI:29958 | UniProtKB:P51787-1, Glu-261, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 27 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Glu-261 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-261, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
associated_with_disease_progression
DO:2842
Jervell-Lange Nielsen syndrome
PMID:10704188