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. [provided by RefSeq, Aug 2011] See more...

Aliases for LETMD1 Gene

Aliases for LETMD1 Gene

  • LETM1 Domain Containing 1 2 3 5
  • Cervical Cancer 1 Proto-Oncogene Protein P40 3 4
  • Cervical Cancer Proto-Oncogene 2 Protein 3 4
  • LETM1 Domain-Containing Protein 1 3 4
  • Human Cervical Cancer Oncogene 2 3
  • HCCR-1 3 4
  • HCRR-2 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Cervical Cancer 1 Protooncogene 2
  • Regulator Of TP53 3
  • 1110019O13Rik 3
  • SLC55A3 3
  • HCCR-2 3
  • HCCR1 3
  • HCCR2 3
  • HCCR 3

External Ids for LETMD1 Gene

Previous GeneCards Identifiers for LETMD1 Gene

  • GC12P049729
  • GC12P051442
  • GC12P048474

Summaries for LETMD1 Gene

Entrez Gene Summary for LETMD1 Gene

  • 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. [provided by RefSeq, Aug 2011]

GeneCards Summary for LETMD1 Gene

LETMD1 (LETM1 Domain Containing 1) is a Protein Coding gene. Diseases associated with LETMD1 include Cervical Cancer. An important paralog of this gene is LETM1.

UniProtKB/Swiss-Prot Summary for LETMD1 Gene

  • Involved in tumorigenesis and may function as a negative regulator of the p53/TP53.

Gene Wiki entry for LETMD1 Gene

Additional gene information for LETMD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LETMD1 Gene

Genomics for LETMD1 Gene

GeneHancer (GH) Regulatory Elements for LETMD1 Gene

Promoters and enhancers for LETMD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LETMD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LETMD1

Top Transcription factor binding sites by QIAGEN in the LETMD1 gene promoter:
  • p53
  • Pax-5
  • POU2F1
  • POU2F1a
  • STAT3
  • Zic1

Genomic Locations for LETMD1 Gene

Genomic Locations for LETMD1 Gene
chr12:51,047,962-51,067,369
(GRCh38/hg38)
Size:
19,408 bases
Orientation:
Plus strand
chr12:51,441,745-51,454,207
(GRCh37/hg19)
Size:
12,463 bases
Orientation:
Plus strand

Genomic View for LETMD1 Gene

Genes around LETMD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LETMD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LETMD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LETMD1 Gene

Proteins for LETMD1 Gene

  • Protein details for LETMD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1Q0-LTMD1_HUMAN
    Recommended name:
    LETM1 domain-containing protein 1
    Protein Accession:
    Q6P1Q0
    Secondary Accessions:
    • A6NER7
    • B3KXK7
    • Q6X2E4
    • Q6X2E5
    • Q7L2G9
    • Q7L690
    • Q8WXW6
    • Q96PK7
    • Q9BY59
    • Q9Y3X3

    Protein attributes for LETMD1 Gene

    Size:
    360 amino acids
    Molecular mass:
    41790 Da
    Quaternary structure:
    • Interacts with BRI3BP.

    Alternative splice isoforms for LETMD1 Gene

neXtProt entry for LETMD1 Gene

Post-translational modifications for LETMD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LETMD1 Gene

Domains & Families for LETMD1 Gene

Gene Families for LETMD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LETMD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LETMD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45633 fis, clone CHONS2002419, highly similar to Homo sapiens LETM1 domain containing 1 (LETMD1), transcript variant 1, mRNA (B3KXK7_HUMAN)
  • cDNA FLJ53675, highly similar to Homo sapiens LETM1 domain containing 1 (LETMD1), transcript variant 1, mRNA (B7Z7E4_HUMAN)
  • HCRR-2 (LTMD1_HUMAN)
genes like me logo Genes that share domains with LETMD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LETMD1 Gene

Function for LETMD1 Gene

Molecular function for LETMD1 Gene

UniProtKB/Swiss-Prot Function:
Involved in tumorigenesis and may function as a negative regulator of the p53/TP53.

Phenotypes From GWAS Catalog for LETMD1 Gene

Gene Ontology (GO) - Molecular Function for LETMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16762630
GO:0043022 ribosome binding IEA --
genes like me logo Genes that share ontologies with LETMD1: view

Phenotypes for LETMD1 Gene

genes like me logo Genes that share phenotypes with LETMD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LETMD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LETMD1 Gene

Localization for LETMD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LETMD1 Gene

Mitochondrion outer membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LETMD1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LETMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LETMD1: view

Pathways & Interactions for LETMD1 Gene

PathCards logo

SuperPathways for LETMD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LETMD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LETMD1 Gene

Drugs & Compounds for LETMD1 Gene

No Compound Related Data Available

Transcripts for LETMD1 Gene

mRNA/cDNA for LETMD1 Gene

29 REFSEQ mRNAs :
31 NCBI additional mRNA sequence :
38 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LETMD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LETMD1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b · 8c · 8d · 8e ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - -
SP14: - - - - - - - -
SP15: - - - - - - - - - - - -
SP16: - - - - - -
SP17: - - - - - - - - - -
SP18: - - - - - - - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - -
SP21: - - - - - - - - - - - - - - - - -
SP22: - - - - -
SP23: - - - - - - - - - - - - - - - - - - - - -
SP24: - - - - - - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - - - - - - - - - - - -
SP26: - - - - - - - - - - - - - - - - - - -
SP27: - - - - - - - - - - - - - - - - - - - -
SP28: - - - - - - - - - - - - - - - - -
SP29:
SP30: - - - -
SP31:
SP32:
SP33:
SP34: - - -
SP35: -
SP36: - - - - - - -

ExUns: 9a · 9b · 9c · 9d · 9e ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c · 13d · 13e · 13f · 13g · 13h · 13i · 13j · 13k · 13l · 13m · 13n ·
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8: - - - -
SP9: - - - -
SP10:
SP11:
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - -
SP19: - - - -
SP20: - - -
SP21: - - -
SP22: - - - -
SP23: - - - -
SP24: - - -
SP25: - - - - - - - -
SP26: - - -
SP27: - - - - - - - -
SP28: - - - -
SP29: - - - - - - - -
SP30:
SP31:
SP32: - - -
SP33: - - - -
SP34:
SP35:
SP36:

Relevant External Links for LETMD1 Gene

GeneLoc Exon Structure for
LETMD1

Expression for LETMD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LETMD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LETMD1 Gene

This gene is overexpressed in Bone (22.0) and Stomach (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LETMD1 Gene



Protein tissue co-expression partners for LETMD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LETMD1

SOURCE GeneReport for Unigene cluster for LETMD1 Gene:

Hs.655272

mRNA Expression by UniProt/SwissProt for LETMD1 Gene:

Q6P1Q0-LTMD1_HUMAN
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.

Evidence on tissue expression from TISSUES for LETMD1 Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with LETMD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LETMD1 Gene

Orthologs for LETMD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LETMD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LETMD1 31 30
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LETMD1 31 30
  • 91.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LETMD1 31 30
  • 90.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Letmd1 17 31 30
  • 84.07 (n)
rat
(Rattus norvegicus)
Mammalia Letmd1 30
  • 83.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LETMD1 31
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LETMD1 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia letmd1 30
  • 59.21 (n)
Str.2051 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12988 30
zebrafish
(Danio rerio)
Actinopterygii zgc:194455 30
  • 51.85 (n)
LETMD1 31
  • 41 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9816 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005736 30
  • 43.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5989 31 30
  • 39.71 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3603 31
  • 21 (a)
OneToOne
Species where no ortholog for LETMD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LETMD1 Gene

ENSEMBL:
Gene Tree for LETMD1 (if available)
TreeFam:
Gene Tree for LETMD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LETMD1: view image

Paralogs for LETMD1 Gene

Paralogs for LETMD1 Gene

(1) SIMAP similar genes for LETMD1 Gene using alignment to 20 proteins:

  • LTMD1_HUMAN
  • F8VP71_HUMAN
  • F8VPY5_HUMAN
  • F8VQE7_HUMAN
  • F8VR33_HUMAN
  • F8VR35_HUMAN
  • F8VS60_HUMAN
  • F8VTR1_HUMAN
  • F8VUZ8_HUMAN
  • F8VVQ3_HUMAN
  • F8VXQ4_HUMAN
  • F8VZA2_HUMAN
  • F8W0R0_HUMAN
  • F8W1U1_HUMAN
  • F8W1Z2_HUMAN
  • F8W6J0_HUMAN
  • F8WCD9_HUMAN
  • H0YH93_HUMAN
  • H0YHF4_HUMAN
  • H0YIV5_HUMAN
genes like me logo Genes that share paralogs with LETMD1: view

Variants for LETMD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LETMD1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs12379 - p.Val84Ile

Additional dbSNP identifiers (rs#s) for LETMD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LETMD1 Gene

Variant ID Type Subtype PubMed ID
esv34039 CNV loss 18971310
esv3629498 CNV gain 21293372

Variation tolerance for LETMD1 Gene

Residual Variation Intolerance Score: 41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LETMD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LETMD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LETMD1 Gene

Disorders for LETMD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LETMD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cervical cancer
  • cervical cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LETMD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LETMD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LETMD1 Gene

Publications for LETMD1 Gene

  1. HCCR-1, a novel oncogene, encodes a mitochondrial outer membrane protein and suppresses the UVC-induced apoptosis. (PMID: 18045496) Cho GW … Kim JW (BMC cell biology 2007) 3 4 23 54
  2. Identification and differential expression of novel human cervical cancer oncogene HCCR-2 in human cancers and its involvement in p53 stabilization. (PMID: 12879013) Ko J … Kim JW (Oncogene 2003) 2 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Isolation of novel differentially expressed genes related to human glioma using cDNA microarray and characterizations of two novel full-length genes. (PMID: 12061725) Qi ZY … Xie Y (Journal of neuro-oncology 2002) 2 3 54

Products for LETMD1 Gene

Sources for LETMD1 Gene