Human Gene TIMMDC1 (ENST00000494664.6_4) from GENCODE V47lift37
  Description: translocase of inner mitochondrial membrane domain containing 1 (from RefSeq NM_016589.4)
Gencode Transcript: ENST00000494664.6_4
Gencode Gene: ENSG00000113845.10_7
Transcript (Including UTRs)
   Position: hg19 chr3:119,217,394-119,243,937 Size: 26,544 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr3:119,217,581-119,242,603 Size: 25,023 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:119,217,394-119,243,937)mRNA (may differ from genome)Protein (285 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TIDC1_HUMAN
DESCRIPTION: RecName: Full=Translocase of inner mitochondrial membrane domain-containing protein 1; AltName: Full=Protein M5-14;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Generalized expression enhanced in heart and skeletal muscle.
SIMILARITY: Belongs to the Tim17/Tim22/Tim23 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


-  MalaCards Disease Associations
  MalaCards Gene Search: TIMMDC1
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (196)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 60.90 RPKM in Heart - Left Ventricle
Total median expression: 1458.99 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 -61.00187-0.326 Picture PostScript Text
3' UTR -352.301334-0.264 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
IPR003397 - Tim17/Tim22/Tim23/PMP24

Pfam Domains:
PF02466 - Tim17/Tim22/Tim23/Pmp24 family

ModBase Predicted Comparative 3D Structure on Q9NPL8
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0032981 mitochondrial respiratory chain complex I assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  KJ893881 - Synthetic construct Homo sapiens clone ccsbBroadEn_03275 TIMMDC1 gene, encodes complete protein.
AF139077 - Homo sapiens M5-14 mRNA, complete cds.
AL136622 - Homo sapiens mRNA; cDNA DKFZp564B172 (from clone DKFZp564B172).
AK026250 - Homo sapiens cDNA: FLJ22597 fis, clone HSI03815, highly similar to AF139077 Homo sapiens M5-14 mRNA.
AK225954 - Homo sapiens mRNA for hypothetical protein LOC51300 variant, clone: FCC114G12.
AF210057 - Homo sapiens C3orf1 mRNA, complete cds.
AL390077 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 713100.
AY358633 - Homo sapiens clone DNA23318 C3orf1 (UNQ247) mRNA, complete cds.
JD220718 - Sequence 201742 from Patent EP1572962.
AL390090 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1914675.
BC012341 - Homo sapiens chromosome 3 open reading frame 1, mRNA (cDNA clone MGC:19908 IMAGE:4576562), complete cds.
JD138077 - Sequence 119101 from Patent EP1572962.
AB528090 - Synthetic construct DNA, clone: pF1KE0140, Homo sapiens C3orf1 gene for chromosome 3 open reading frame 1, without stop codon, in Flexi system.
AM393632 - Synthetic construct Homo sapiens clone IMAGE:100002081 for hypothetical protein (C3orf1 gene).
CU680290 - Synthetic construct Homo sapiens gateway clone IMAGE:100020666 5' read C3orf1 mRNA.
CR457158 - Homo sapiens full open reading frame cDNA clone RZPDo834B0712D for gene C3orf1, chromosome 3 open reading frame 1; complete cds, incl. stopcodon.
CR533524 - Homo sapiens full open reading frame cDNA clone RZPDo834F1119D for gene C3orf1, chromosome 3 open reading frame 1; complete cds, incl. stopcodon.
DQ572402 - Homo sapiens piRNA piR-40514, complete sequence.
AL390094 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1522753.
JD262423 - Sequence 243447 from Patent EP1572962.
JD562664 - Sequence 543688 from Patent EP1572962.
JD374737 - Sequence 355761 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NPL8 (Reactome details) participates in the following event(s):

R-HSA-6799203 IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1
R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
R-HSA-6799178 Intermediate 1 binds HP subcomplex to form Intermediate 2
R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex
R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex
R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex
R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
R-HSA-6799198 Complex I biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: C3orf1, D3DN81, ENST00000494664.1, ENST00000494664.2, ENST00000494664.3, ENST00000494664.4, ENST00000494664.5, NM_016589, Q6IAJ7, Q6UWU6, Q9NPL8, Q9NPR3, Q9NPS5, Q9P0Y6, TIDC1_HUMAN, TIMMDC1 , uc322qdz.1, uc322qdz.2, UNQ247/PRO284
UCSC ID: ENST00000494664.6_4
RefSeq Accession: NM_016589.4
Protein: Q9NPL8 (aka TIDC1_HUMAN)

-  Gene Model Information
  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.