Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3954
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine zipper and EF-hand containing transmembrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LETM1
Synonyms (NCBI Gene) Gene synonyms aliases
CONDMIM, KHE, Mdm38, SLC55A1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016307 hsa-miR-193b-3p Proteomics 21512034
MIRT023539 hsa-miR-1-3p Proteomics 18668040
MIRT028844 hsa-miR-26b-5p Microarray 19088304
MIRT043486 hsa-miR-331-3p CLASH 23622248
MIRT041761 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 10486213, 26975899
GO:0005515 Function Protein binding IPI 18628306, 25416956, 32296183, 36321428
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604407 6556 ENSG00000168924
Protein
UniProt ID O95202
Protein name Mitochondrial proton/calcium exchanger protein (Electroneutral mitochondrial K(+)/H(+)exchanger) (KHE) (Leucine zipper-EF-hand-containing transmembrane protein 1)
Protein function Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18628306, PubMed:19797662, PubMed:24344246, PubMed:24898248, PubMed:29123128, PubMed:32139798, PubMed:3605521
PDB 9BA1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07766 LETM1 153 418 LETM1-like protein Family
Sequence
MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCLNVPFGCCTPIHP
VYTSSRGDHLGCWALRPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVV
EKSLKSLKDKNKKLEEGGPVYSPPAEVVVKKSLGQRVLDELKHYYHGFRLLWIDTKIAAR
MLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVAVKLFPNMLPSTF
ETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQKIRETGERP
SNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDK
LIAEEGVDSLNVKELQAACRARGMRALGVTEDRLRGQLKQWLDLHLHQEIPTSLLILS
RA
MYLPDTLSPADQLKSTLQTLPEIVAKEAQVKVAEVEGEQVDNKAKLEATLQEEAAIQQEH
REKELQKRSEVAKDFEPERVVAAPQRPGTEPQPEMPDTVLQSETLKDTAPVLEGLKEEEI
TKEEIDILSDACSKLQEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGEEKYVE
ESKASKRLTKRVQQMIGQIDGLISQLEMDQQAGKLAPANGMPTGENVISVAELINAMKQV
KHIPESKLTSLAAALDENKDGKVNIDDLVKVIELVDKEDVHISTSQVAEIVATLEKEEKV
EEKEKAKEKAEKEVAEVKS
Sequence length 739
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
4p partial monosomy syndrome 4p partial monosomy syndrome N/A N/A ClinVar
Ependymoma ependymoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Metabolic Associate 36055214
Breast Neoplasms Associate 26722481
Carcinogenesis Associate 26722481
Carcinoma Non Small Cell Lung Associate 31500591
Carcinoma Ovarian Epithelial Associate 32163372
Cardiomyopathies Associate 36055214
Cataract Associate 36055214
Cerebellar Ataxia Associate 36055214
Colorectal Neoplasms Associate 33314691
Developmental Disabilities Associate 36055214