Human Gene TIMM23 (uc010qha.2) Description and Page Index
  Description: Homo sapiens translocase of inner mitochondrial membrane 23 homolog (yeast) (TIMM23), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr10:51,371,395-51,734,610 Size: 363,216 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr10:51,371,541-51,732,824 Size: 361,284 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:51,371,395-51,734,610)mRNA (may differ from genome)Protein (188 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: TIM23_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial import inner membrane translocase subunit Tim23;
FUNCTION: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.
SUBUNIT: Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. Interacts directly with TIMM50. The complex interacts with the TIMM44 component of the PAM complex.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the Tim17/Tim22/Tim23 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TIMM23
CDC HuGE Published Literature: TIMM23
Positive Disease Associations: Erythrocyte Indices
Related Studies:
  1. Erythrocyte Indices
    Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics. [PubMed 20139978]

-  MalaCards Disease Associations
  MalaCards Gene Search: TIMM23
Diseases sorted by gene-association score: mitochondrial metabolism disease (1)

-  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: 7.56 RPKM in Testis
Total median expression: 162.23 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 -56.30146-0.386 Picture PostScript Text
3' UTR -594.101786-0.333 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
IPR005681 - Tim23

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

ModBase Predicted Comparative 3D Structure on O14925
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 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:0005515 protein binding
GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity

Biological Process:
GO:0006626 protein targeting to mitochondrion
GO:0006886 intracellular protein transport
GO:0015031 protein transport
GO:0030150 protein import into mitochondrial matrix

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005744 mitochondrial inner membrane presequence translocase complex
GO:0005758 mitochondrial intermembrane space
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane


-  Descriptions from all associated GenBank mRNAs
  AK316549 - Homo sapiens cDNA, FLJ79448 complete cds, highly similar to Mitochondrial import inner membrane translocase subunit Tim23.
AK098044 - Homo sapiens cDNA FLJ40725 fis, clone TKIDN1000001, highly similar to Translocase of inner mitochondrial membrane 23.
AK295227 - Homo sapiens cDNA FLJ57933 complete cds, moderately similar to Mitochondrial import inner membranetranslocase subunit Tim23.
AK316490 - Homo sapiens cDNA, FLJ79389 complete cds, highly similar to Mitochondrial import inner membrane translocase subunit Tim23.
AK295370 - Homo sapiens cDNA FLJ56773 complete cds, highly similar to Mitochondrial import inner membrane translocase subunit Tim23.
AK293228 - Homo sapiens cDNA FLJ60010 complete cds, moderately similar to Mitochondrial import inner membrane translocase subunit Tim23.
CU687598 - Synthetic construct Homo sapiens gateway clone IMAGE:100022373 5' read TIMM23 mRNA.
JD462215 - Sequence 443239 from Patent EP1572962.
JD470322 - Sequence 451346 from Patent EP1572962.
JD236028 - Sequence 217052 from Patent EP1572962.
DQ601560 - Homo sapiens piRNA piR-39626, complete sequence.
BC035067 - Homo sapiens cDNA clone IMAGE:5259593.
DQ574799 - Homo sapiens piRNA piR-42911, complete sequence.

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

Protein O14925 (Reactome details) participates in the following event(s):

R-HSA-1299480 Precursor proteins enter TIMM23 PAM
R-HSA-1299487 Precursor proteins enter TIMM23 SORT
R-HSA-1299475 TIMM23 PAM translocates proteins from the mitochndrial intermebrane space to the mitochondrial matrix
R-HSA-1299482 TIMM23 SORT inserts proteins into inner membrane
R-HSA-1307803 TIMM22 inserts proteins into inner membrane
R-HSA-1299484 TIMM8:TIMM13 chaperones hydrophobic proteins
R-HSA-1299481 TIMM9:TIMM10 binds hydrophobic proteins
R-HSA-1299478 MPP cleaves targeting peptide (presequence) of matrix precursors
R-HSA-1299476 MPP cleaves targeting peptide (presequence) of inner membrane precursors
R-HSA-1955380 TIMM9:TIMM10 transfers proteins to TIMM22
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AK295370, NM_006327, NP_006318, O14925, Q53FF8, Q5T1E6, Q6P5S5, TIM23, TIM23_HUMAN
UCSC ID: uc010qha.2
Representative RNA: AK295370
Protein: O14925 (aka TIM23_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK295370.1
exon count: 7CDS single in 3' UTR: no RNA size: 1036
ORF size: 567CDS single in intron: no Alignment % ID: 99.03
txCdsPredict score: 1334.00frame shift in genome: no % Coverage: 100.00
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: 0# 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.