Gene Gene information from NCBI Gene database.
Entrez ID 25875
Gene name LETM1 domain containing 1
Gene symbol LETMD1
Synonyms (NCBI Gene)
1110019O13RikHCCRHCCR-1HCCR-2HCCR1HCCR2HCRR-2SLC55A3
Chromosome 12
Chromosome location 12q13.12
Summary This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provi
miRNA miRNA information provided by mirtarbase database.
351
miRTarBase ID miRNA Experiments Reference
MIRT037208 hsa-miR-877-5p CLASH 23622248
MIRT709582 hsa-miR-342-3p HITS-CLIP 19536157
MIRT709581 hsa-miR-1229-3p HITS-CLIP 19536157
MIRT709580 hsa-miR-7162-5p HITS-CLIP 19536157
MIRT571010 hsa-miR-4438 HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16762630, 17943721, 32296183
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS 34910916
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619070 24241 ENSG00000050426
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1Q0
Protein name LETM1 domain-containing protein 1 (Cervical cancer 1 proto-oncogene protein p40) (Cervical cancer proto-oncogene 2 protein) (HCCR-1) (HCRR-2)
Protein function Plays an essential role for mitochondrial structure and function, as well as thermogenesis of brown adipocytes. In brown adipose tissue also localizes in the nucleus where it interacts with the chromatin remodeler SMARCA4 to regulate thermogenic
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07766 LETM1 78 346 LETM1-like protein Family
Tissue specificity TISSUE SPECIFICITY: Kidney, liver, skeletal muscle, heart and brain. Overexpressed in various tumors including leukemia, lymphoma, and carcinomas of the breast, kidney, ovary, stomach, colon and uterine cervix. {ECO:0000269|PubMed:12879013}.
Sequence
Sequence length 360
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 24126909, 25034723
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25034723
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 25034723
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 9065478 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14691448, 31424657
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19208263 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19208263, 31424657 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19435525, 22511601 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 26629942
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 26629942
★☆☆☆☆
Found in Text Mining only