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Aliases for TOMM40L Gene

Aliases for TOMM40L Gene

  • Translocase Of Outer Mitochondrial Membrane 40 Like 2 3 5
  • Protein TOMM40-Like 3 4
  • TOMM40B 3 4
  • Translocase Of Outer Mitochondrial Membrane 40 Homolog-Like (Yeast) 2
  • Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast)-Like 2
  • Translocase Of Outer Mitochondrial Membrane 40 Homolog-Like 3
  • Mitochondrial Import Receptor Subunit TOM40B 3

External Ids for TOMM40L Gene

Previous GeneCards Identifiers for TOMM40L Gene

  • GC01P158009
  • GC01P159462
  • GC01P161195
  • GC01P132552

Summaries for TOMM40L Gene

GeneCards Summary for TOMM40L Gene

TOMM40L (Translocase Of Outer Mitochondrial Membrane 40 Like) is a Protein Coding gene. Among its related pathways are Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include porin activity. An important paralog of this gene is TOMM40.

UniProtKB/Swiss-Prot for TOMM40L Gene

  • Potential channel-forming protein implicated in import of protein precursors into mitochondria.

Gene Wiki entry for TOMM40L Gene

Additional gene information for TOMM40L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOMM40L Gene

Genomics for TOMM40L Gene

GeneHancer (GH) Regulatory Elements for TOMM40L Gene

Promoters and enhancers for TOMM40L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I161222 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.8 +0.4 360 6.6 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TOMM40L APOA2 MIR5187 B4GALT3 LOC100287049 DEDD NDUFS2 FCER1G
GH01I161388 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +164.0 163996 2.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 SDHC USP21 PPOX DUSP12 ATF6 CFAP126 NR1I3 APOA2 TOMM40L DEDD
GH01I161213 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 9.6 -8.8 -8775 6.4 PKNOX1 FOXA2 MLX ARID4B DMAP1 IRF4 ZNF48 YY1 ATF7 RUNX3 FCER1G B4GALT3 NDUFS2 CFAP126 MPZ SDHC DEDD TOMM40L NCSTN ADAMTS4
GH01I161196 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.4 -25.9 -25869 8 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 NDUFS2 ADAMTS4 DUSP12 B4GALT3 USP21 PPOX LOC100287049 DCAF8 NIT1 TOMM40L
GH01I161304 Promoter/Enhancer 1.4 Ensembl ENCODE 11.4 +80.5 80513 3 HDGF PKNOX1 ATF1 SIN3A YY1 POLR2B ZNF143 ATF7 SP5 REST FCER1G NDUFS2 NR1I3 APOA2 TOMM40L PCP4L1 SDHC FCGR2C MPZ LOC105371472
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TOMM40L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TOMM40L gene promoter:

Genomic Locations for TOMM40L Gene

Genomic Locations for TOMM40L Gene
chr1:161,225,939-161,230,746
(GRCh38/hg38)
Size:
4,808 bases
Orientation:
Plus strand
chr1:161,195,793-161,200,408
(GRCh37/hg19)

Genomic View for TOMM40L Gene

Genes around TOMM40L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOMM40L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOMM40L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOMM40L Gene

Proteins for TOMM40L Gene

  • Protein details for TOMM40L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969M1-TM40L_HUMAN
    Recommended name:
    Mitochondrial import receptor subunit TOM40B
    Protein Accession:
    Q969M1
    Secondary Accessions:
    • B7Z4U0
    • D3DVG9

    Protein attributes for TOMM40L Gene

    Size:
    308 amino acids
    Molecular mass:
    33917 Da
    Quaternary structure:
    • Forms part of the preprotein translocase of the outer mitochondrial membrane (TOM complex) containing TOMM22, TOMM40, TOMM40L and TOMM70. Interacts with mitochondrial targeting sequences (By similarity).

    Alternative splice isoforms for TOMM40L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOMM40L Gene

Post-translational modifications for TOMM40L Gene

No Post-translational modifications

No data available for DME Specific Peptides for TOMM40L Gene

Domains & Families for TOMM40L Gene

Gene Families for TOMM40L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TOMM40L Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q969M1

UniProtKB/Swiss-Prot:

TM40L_HUMAN :
  • Belongs to the Tom40 family.
Family:
  • Belongs to the Tom40 family.
genes like me logo Genes that share domains with TOMM40L: view

Function for TOMM40L Gene

Molecular function for TOMM40L Gene

UniProtKB/Swiss-Prot Function:
Potential channel-forming protein implicated in import of protein precursors into mitochondria.

Phenotypes From GWAS Catalog for TOMM40L Gene

Gene Ontology (GO) - Molecular Function for TOMM40L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0015288 porin activity IEA --
genes like me logo Genes that share ontologies with TOMM40L: view

Phenotypes for TOMM40L Gene

GenomeRNAi human phenotypes for TOMM40L:
genes like me logo Genes that share phenotypes with TOMM40L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOMM40L Gene

Localization for TOMM40L Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOMM40L Gene

Mitochondrion outer membrane; Multi-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 TOMM40L gene
Compartment Confidence
mitochondrion 4
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TOMM40L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005742 mitochondrial outer membrane translocase complex IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TOMM40L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TOMM40L Gene

Pathways & Interactions for TOMM40L Gene

genes like me logo Genes that share pathways with TOMM40L: view

Pathways by source for TOMM40L Gene

1 KEGG pathway for TOMM40L Gene

Gene Ontology (GO) - Biological Process for TOMM40L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008150 biological_process ND --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with TOMM40L: view

No data available for SIGNOR curated interactions for TOMM40L Gene

Drugs & Compounds for TOMM40L Gene

No Compound Related Data Available

Transcripts for TOMM40L Gene

Unigene Clusters for TOMM40L Gene

Translocase of outer mitochondrial membrane 40 homolog (yeast)-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOMM40L Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for TOMM40L Gene

GeneLoc Exon Structure for
TOMM40L
ECgene alternative splicing isoforms for
TOMM40L

Expression for TOMM40L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TOMM40L Gene

Protein differential expression in normal tissues from HIPED for TOMM40L Gene

This gene is overexpressed in Frontal cortex (10.0), Retina (9.0), Peripheral blood mononuclear cells (8.1), Placenta (8.0), Fetal heart (7.5), Heart (7.5), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TOMM40L Gene



Protein tissue co-expression partners for TOMM40L Gene

NURSA nuclear receptor signaling pathways regulating expression of TOMM40L Gene:

TOMM40L

SOURCE GeneReport for Unigene cluster for TOMM40L Gene:

Hs.321653

Evidence on tissue expression from TISSUES for TOMM40L Gene

  • Heart(4.2)
  • Skin(4.2)
  • Eye(4.1)
  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with TOMM40L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOMM40L Gene

Orthologs for TOMM40L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TOMM40L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TOMM40L 33 34
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia TOMM40L 33
  • 94.07 (n)
TOM40B 34
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOMM40L 33 34
  • 92.32 (n)
mouse
(Mus musculus)
Mammalia Tomm40l 33 16 34
  • 92.1 (n)
rat
(Rattus norvegicus)
Mammalia Tomm40l 33
  • 91.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TOMM40L 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOMM40L 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOMM40L 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm40l 33
  • 70.28 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-71l1.1 33
  • 63.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta tomboy40 34
  • 39 (a)
ManyToMany
Tom40 34
  • 37 (a)
ManyToMany
CG4520 34
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tomm-40 34
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM40 34 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2065 34
  • 37 (a)
OneToMany
Species where no ortholog for TOMM40L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for TOMM40L Gene

ENSEMBL:
Gene Tree for TOMM40L (if available)
TreeFam:
Gene Tree for TOMM40L (if available)

Paralogs for TOMM40L Gene

Paralogs for TOMM40L Gene

(1) SIMAP similar genes for TOMM40L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TOMM40L: view

Variants for TOMM40L Gene

Sequence variations from dbSNP and Humsavar for TOMM40L Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs398122411 uncertain-significance, Chromosome 9q deletion syndrome 161,231,200(+) A/G downstream_transcript_variant
VAR_035815 A colorectal cancer sample p.Asp100Asn
rs150124500 uncertain-significance, not specified 161,229,905(+) T/G 3_prime_UTR_variant
rs794727971 uncertain-significance, not specified 161,229,842(+) C/A 3_prime_UTR_variant
rs147849659 benign, not specified 161,229,789(+) G/A 3_prime_UTR_variant

Variation tolerance for TOMM40L Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOMM40L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOMM40L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TOMM40L Gene

Disorders for TOMM40L Gene

Additional Disease Information for TOMM40L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TOMM40L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TOMM40L Gene

Publications for TOMM40L Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TOMM40L Gene

Sources for TOMM40L Gene

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