Q9UJ90 (KCE1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Potassium voltage-gated channel subfamily E member 1-like protein

Alternative name(s):
AMME syndrome candidate gene 2 protein

Gene names

Name:	KCNE1L
Synonyms:	AMMECR2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	142 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Single-pass type I membrane protein.
Tissue specificity	Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
Involvement in disease	Defects in KCNE1L are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]. A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis.
Sequence similarities	Belongs to the potassium channel KCNE family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Alport syndrome Deafness Elliptocytosis Hereditary hemolytic anemia Mental retardation
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	regulation of heart contraction Traceable author statement. Source: ProtInc
Cellular component	voltage-gated potassium channel complex Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 142	142	Potassium voltage-gated channel subfamily E member 1-like protein		PRO_0000144294
Regions
	Transmembrane	61 – 81	21	Helical; Potential
	Topological domain	82 – 142	61	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	2	1	N-linked (GlcNAc...) Potential
	Glycosylation	25	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	33	1	P → S. Corresponds to variant rs17003955 [ dbSNP | Ensembl ].		VAR_053037
	Natural variant	114	1	E → Q. Corresponds to variant rs41312935 [ dbSNP | Ensembl ].		VAR_034048

Sequences

	Sequence		Length	Mass (Da)
	Q9UJ90 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: ED8EC611CDE66BFE	FASTA	142	14,993
	10 20 30 40 50 60 MNCSESQRLR TLLSRLLLEL HHRGNASGLG AGPRPSMGMG VVPDPFVGRE VTSAKGDDAY 70 80 90 100 110 120 LYILLIMIFY ACLAGGLILA YTRSRKLVEA KDEPSQACAE HEWAPGGALT ADAEAAAGSQ 130 140 AEGRRQLASE GLPALAQGAE RV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs." Piccini M., Vitelli F., Seri M., Galietta L.J.V., Moran O., Bulfone A., Banfi S., Pober B., Renieri A. Genomics 60:251-257(1999) [PubMed: 10493825] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Neuron and Placenta.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ012743 mRNA. Translation: CAB58359.1. BC035330 mRNA. Translation: AAH35330.1.
IPI	IPI00017519.
RefSeq	NP_036414.1. NM_012282.2.
UniGene	Hs.522753.
3D structure databases
ProteinModelPortal	Q9UJ90.
SMR	Q9UJ90. Positions 1-109.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9UJ90.
Polymorphism databases
DMDM	27151551.
Proteomic databases
PRIDE	Q9UJ90.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372101; ENSP00000361173; ENSG00000176076.
GeneID	23630.
KEGG	hsa:23630.
UCSC	uc004eoh.1. human.
Organism-specific databases
CTD	23630.
GeneCards	GC0XM108866.
H-InvDB	HIX0028338.
HGNC	HGNC:6241. KCNE1L.
HPA	HPA042316.
MIM	300194. phenotype. 300328. gene.
neXtProt	NX_Q9UJ90.
Orphanet	86818. Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000012545.
HOGENOM	HBG127451.
HOVERGEN	HBG052221.
InParanoid	Q9UJ90.
OMA	REVTSAK.
OrthoDB	EOG45B1H2.
PhylomeDB	Q9UJ90.
Gene expression databases
ArrayExpress	Q9UJ90.
Bgee	Q9UJ90.
CleanEx	HS_KCNE1L.
Genevestigator	Q9UJ90.
GermOnline	ENSG00000176076. Homo sapiens.
Family and domain databases
KO	K04895.
ProtoNet	Search...
Other
NextBio	46403.
SOURCE	Search...

Entry information

Entry name

KCE1L_HUMAN

Accession

Primary (citable) accession number: Q9UJ90

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 13, 2002
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.