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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). 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

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

Genomics for TOMM40L Gene

Regulatory Elements for TOMM40L Gene

Enhancers for TOMM40L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F161388 1.8 FANTOM5 Ensembl ENCODE 11.2 +164.1 164096 2.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS SDHC DUSP12 ATF6 CFAP126 NR1I3 APOA2 MIR5187 TOMM40L MPZ FCRLA
GH01F161381 1.3 FANTOM5 Ensembl ENCODE 11.6 +156.8 156811 2.3 CTCF ZNF654 CEBPB MAFG REST RAD21 RFX5 ZNF316 ZBTB48 SMC3 SDHC NR1I3 MIR5187 TOMM40L APOA2 ADAMTS4 NDUFS2 MPZ RRM2P2 ENSG00000283696
GH01F161256 1 ENCODE 11.9 +30.3 30347 0.2 PKNOX1 ATF1 ARID4B SIN3A GLI4 ZNF2 YY1 ZNF766 SP3 YY2 APOA2 TOMM40L MIR5187 SDHC PCP4L1 NR1I3
GH01F161386 1 FANTOM5 Ensembl 11 +160.7 160693 0.5 BCOR KLF1 PKNOX1 ESRRA SP3 STAT1 HLF NR2F1 RELA PATZ1 ADAMTS4 NDUFS2 SDHC NR1I3 MIR5187 TOMM40L APOA2 MPZ FCER1G ATF6
GH01F161304 0.9 ENCODE 11.4 +80.5 80514 3.0 HDGF TBP HDAC1 ATF1 PKNOX1 CBX3 CREB3L1 RAD21 ZBTB40 YY1 FCER1G NDUFS2 NR1I3 MIR5187 APOA2 TOMM40L PCP4L1 SDHC FCGR2C MPZ
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOMM40L on UCSC Golden Path with GeneCards custom track

Promoters for TOMM40L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000546434 361 1401 PKNOX1 ATF1 ARID4B SIN3A GLI4 ZNF48 ZNF2 ETS1 YY1 ZNF207

Genomic Location for TOMM40L Gene

Chromosome:
1
Start:
161,225,939 bp from pter
End:
161,230,746 bp from pter
Size:
4,808 bases
Orientation:
Plus strand

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).
    • 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TOMM40L Gene

Domains & Families for TOMM40L Gene

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

No data available for Gene Families for TOMM40L Gene

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.

Gene Ontology (GO) - Molecular Function for TOMM40L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0015266 protein channel activity IBA --
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

Inhibitory RNA Products

Flow Cytometry 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

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

Transcripts for TOMM40L Gene

Unigene Clusters for TOMM40L Gene

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

Inhibitory RNA Products

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia TOMM40L 34
  • 94.07 (n)
TOM40B 35
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOMM40L 34 35
  • 92.32 (n)
mouse
(Mus musculus)
Mammalia Tomm40l 34 16 35
  • 92.1 (n)
rat
(Rattus norvegicus)
Mammalia Tomm40l 34
  • 91.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TOMM40L 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOMM40L 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOMM40L 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm40l 34
  • 70.28 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-71l1.1 34
  • 63.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta tomboy40 35
  • 39 (a)
ManyToMany
Tom40 35
  • 37 (a)
ManyToMany
CG4520 35
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tomm-40 35
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM40 35 37
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2065 35
  • 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 Sequence Context AA Info Type
VAR_035815 A colorectal cancer sample
rs150124500 Uncertain significance 161,229,905(+) AGGCC(G/T)AGCAA intron-variant, reference, synonymous-codon, utr-variant-3-prime
rs398122411 Uncertain significance 161,231,200(-) GCTCT(C/T)TCACT intron-variant, reference, missense
rs794727971 Uncertain significance 161,229,842(-) ATCCA(G/T)GGCCT intron-variant, reference, missense, utr-variant-3-prime
rs147849659 Benign 161,229,789(+) AGTGA(A/G)CATGG intron-variant, utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for TOMM40L

Genetic Association Database (GAD)
TOMM40L
Human Genome Epidemiology (HuGE) Navigator
TOMM40L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOMM40L

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 S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TOMM40L Gene

Sources for TOMM40L Gene

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