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FLASH GENE

Symbol

KCNE1L

contributors: - updated : 03-03-2006

HGNC name	KCNE1-like
HGNC id	6241

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMME Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
Location	Xq22.3      Physical location : 108.866.930 - 108.868.393
Synonym name	potassium voltage-gated channel, Isk-related family, member 1-like
Synonym symbol(s)	KCNE5

DNA

TYPE	functioning gene
STRUCTURE	1.00 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Lymphoid/Immune thymus       highly Nervous brain       highly   spinal cord         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Muscular striatum skeletal     Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

single transmembrane domain and with putative channel function

HOMOLOGY

interspecies

ortholog to murine Kcne1l

Homologene

FAMILY

potassium channel KCNE family

CATEGORY

transport

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

playing a role in regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMME

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         included in the contiguous gene syndrome AMME (MIM 300194)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS