BC035330
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
14,993 Da
NCBI Official Full Name
Homo sapiens KCNE1-like, mRNA
NCBI Official Synonym Full Names
potassium voltage-gated channel subfamily E regulatory subunit 5
NCBI Official Synonym Symbols
NCBI Protein Information
potassium voltage-gated channel subfamily E regulatory beta subunit 5
UniProt Protein Name
Potassium voltage-gated channel subfamily E regulatory beta subunit 5
UniProt Synonym Protein Names
AMME syndrome candidate gene 2 protein; Potassium channel subunit beta MiRP4; Potassium voltage-gated channel subfamily E member 1-like protein
UniProt Synonym Gene Names
UniProt Entry Name
KCNE5_HUMAN
NCBI Summary for KCNE1L
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. [provided by RefSeq, Jul 2008]
UniProt Comments for KCNE1L
KCNE1L: Defects in KCNE1L are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR). A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis. Belongs to the potassium channel KCNE family.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: Xq22.3
Cellular Component: plasma membrane; voltage-gated potassium channel complex
Molecular Function: potassium channel regulator activity; protein binding; voltage-gated potassium channel activity
Biological Process: cardiac muscle contraction; regulation of heart contraction
Research Articles on KCNE1L
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Diseases associated with KCNE1L cdna clone
Organs/Tissues associated with KCNE1L cdna clone
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