Human Gene TOMM40L (uc001fzd.3)
  Description: Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:161,195,833-161,200,407 Size: 4,575 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:161,196,280-161,198,885 Size: 2,606 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:161,195,833-161,200,407)mRNA (may differ from genome)Protein (308 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: TM40L_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial import receptor subunit TOM40B; AltName: Full=Protein TOMM40-like;
FUNCTION: Potential channel-forming protein implicated in import of protein precursors into mitochondria (By similarity).
SUBUNIT: 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).
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the Tom40 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TOMM40L
CDC HuGE Published Literature: TOMM40L

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.49 RPKM in Heart - Left Ventricle
Total median expression: 142.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.60229-0.409 Picture PostScript Text
3' UTR -573.661522-0.377 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001925 - Porin_Euk

Pfam Domains:
PF01459 - Eukaryotic porin

ModBase Predicted Comparative 3D Structure on Q969M1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0008320 protein transmembrane transporter activity
GO:0015288 porin activity
GO:0030943 mitochondrion targeting sequence binding
GO:0070678 preprotein binding

Biological Process:
GO:0006811 ion transport
GO:0008150 biological_process
GO:0015031 protein transport
GO:0030150 protein import into mitochondrial matrix
GO:0055085 transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005742 mitochondrial outer membrane translocase complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex
GO:0046930 pore complex


-  Descriptions from all associated GenBank mRNAs
  AK297848 - Homo sapiens cDNA FLJ52571 complete cds, highly similar to Protein TOMM40-like.
AK027704 - Homo sapiens cDNA FLJ14798 fis, clone NT2RP4001313, weakly similar to MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM40.
AK022832 - Homo sapiens cDNA FLJ12770 fis, clone NT2RP2001613, weakly similar to MITOCHONDRIAL IMPORT RECEPTOR SUBUNIT TOM40.
BX537951 - Homo sapiens mRNA; cDNA DKFZp686I2086 (from clone DKFZp686I2086); complete cds.
AK297831 - Homo sapiens cDNA FLJ52528 complete cds, highly similar to Protein TOMM40-like.
BC014946 - Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like, mRNA (cDNA clone MGC:22951 IMAGE:4872309), complete cds.
JD523847 - Sequence 504871 from Patent EP1572962.
JD152392 - Sequence 133416 from Patent EP1572962.
CU677129 - Synthetic construct Homo sapiens gateway clone IMAGE:100023358 5' read TOMM40L mRNA.
AB528265 - Synthetic construct DNA, clone: pF1KE0451, Homo sapiens TOMM40L gene for translocase of outer mitochondrial membrane 40 homolog (yeast)-like, without stop codon, in Flexi system.
AM392638 - Synthetic construct Homo sapiens clone IMAGE:100002155 for hypothetical protein (TOMM40L gene).
AM393089 - Synthetic construct Homo sapiens clone IMAGE:100002154 for hypothetical protein (TOMM40L gene).
KJ894940 - Synthetic construct Homo sapiens clone ccsbBroadEn_04334 TOMM40L gene, encodes complete protein.
JD260454 - Sequence 241478 from Patent EP1572962.
JD273067 - Sequence 254091 from Patent EP1572962.
JD435666 - Sequence 416690 from Patent EP1572962.
JD392238 - Sequence 373262 from Patent EP1572962.
JD345946 - Sequence 326970 from Patent EP1572962.
JD498000 - Sequence 479024 from Patent EP1572962.
JD108173 - Sequence 89197 from Patent EP1572962.
JD508721 - Sequence 489745 from Patent EP1572962.
JD338478 - Sequence 319502 from Patent EP1572962.
JD199105 - Sequence 180129 from Patent EP1572962.
JD387033 - Sequence 368057 from Patent EP1572962.
JD387034 - Sequence 368058 from Patent EP1572962.
JD183252 - Sequence 164276 from Patent EP1572962.
JD228282 - Sequence 209306 from Patent EP1572962.
JD386835 - Sequence 367859 from Patent EP1572962.
JD528437 - Sequence 509461 from Patent EP1572962.
JD297851 - Sequence 278875 from Patent EP1572962.
JD254147 - Sequence 235171 from Patent EP1572962.
JD521494 - Sequence 502518 from Patent EP1572962.
JD559755 - Sequence 540779 from Patent EP1572962.
JD125304 - Sequence 106328 from Patent EP1572962.
JD142203 - Sequence 123227 from Patent EP1572962.
JD383268 - Sequence 364292 from Patent EP1572962.
JD385310 - Sequence 366334 from Patent EP1572962.
JD109259 - Sequence 90283 from Patent EP1572962.
JD510293 - Sequence 491317 from Patent EP1572962.
JD374135 - Sequence 355159 from Patent EP1572962.
JD221575 - Sequence 202599 from Patent EP1572962.
JD355572 - Sequence 336596 from Patent EP1572962.
CU686947 - Synthetic construct Homo sapiens gateway clone IMAGE:100022636 3' read NR1I3 mRNA.
JD199964 - Sequence 180988 from Patent EP1572962.
JD151117 - Sequence 132141 from Patent EP1572962.
JD330495 - Sequence 311519 from Patent EP1572962.
JD271979 - Sequence 253003 from Patent EP1572962.
JD045888 - Sequence 26912 from Patent EP1572962.
JD409519 - Sequence 390543 from Patent EP1572962.
JD443453 - Sequence 424477 from Patent EP1572962.
JD275895 - Sequence 256919 from Patent EP1572962.
JD250907 - Sequence 231931 from Patent EP1572962.
JD068837 - Sequence 49861 from Patent EP1572962.
JD304762 - Sequence 285786 from Patent EP1572962.
JD276605 - Sequence 257629 from Patent EP1572962.
JD214061 - Sequence 195085 from Patent EP1572962.
JD047982 - Sequence 29006 from Patent EP1572962.
JD178140 - Sequence 159164 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05014 - Amyotrophic lateral sclerosis (ALS)

-  Other Names for This Gene
  Alternate Gene Symbols: D3DVG9, NM_032174, NP_115550, Q969M1, TM40L_HUMAN, TOMM40B
UCSC ID: uc001fzd.3
RefSeq Accession: NM_032174
Protein: Q969M1 (aka TM40L_HUMAN)
CCDS: CCDS1227.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032174.4
exon count: 10CDS single in 3' UTR: no RNA size: 2713
ORF size: 927CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1910.00frame shift in genome: no % Coverage: 98.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 104# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.