Human Gene TIMM23 (uc001jiu.4) 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.
RefSeq Summary (NM_006327): The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012].
Transcript (Including UTRs)
   Position: hg19 chr10:51,592,081-51,623,386 Size: 31,306 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr10:51,592,504-51,623,214 Size: 30,711 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:51,592,081-51,623,386)mRNA (may differ from genome)Protein (209 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
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
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.00172-0.401 Picture PostScript Text
3' UTR -100.91423-0.239 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
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 BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence

-  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
  BC066951 - Homo sapiens translocase of inner mitochondrial membrane 23 homolog (yeast), mRNA (cDNA clone MGC:87383 IMAGE:5264814), complete cds.
AY442341 - Homo sapiens mitochondrial inner membrane translocase 23 (TIMM23) mRNA, complete cds; nuclear gene for mitochondrial product.
BC062707 - Homo sapiens translocase of inner mitochondrial membrane 23 homolog (yeast), mRNA (cDNA clone MGC:71995 IMAGE:4772587), complete cds.
U38436 - Human clone JkA7 mRNA induced upon T-cell activation, 3' end.
AK223331 - Homo sapiens mRNA for translocase of inner mitochondrial membrane 23 (yeast) homolog, clone: TST00536.
DQ600529 - Homo sapiens piRNA piR-38595, complete sequence.
LF349878 - JP 2014500723-A/157381: Polycomb-Associated Non-Coding RNAs.
AK304883 - Homo sapiens cDNA FLJ57459 complete cds, highly similar to Mitochondrial import inner membrane translocase subunit Tim23.
AF030162 - Homo sapiens inner mitochondrial membrane translocase Tim23 (TIM23) mRNA, nuclear gene encoding mitochondrial protein, complete cds.
CU688220 - Synthetic construct Homo sapiens gateway clone IMAGE:100021048 5' read TIMM23 mRNA.
HQ448532 - Synthetic construct Homo sapiens clone IMAGE:100071967; CCSB010980_01 translocase of inner mitochondrial membrane 23 homolog (yeast) (TIMM23) gene, encodes complete protein.
KJ893034 - Synthetic construct Homo sapiens clone ccsbBroadEn_02428 TIMM23B gene, encodes complete protein.
KJ902104 - Synthetic construct Homo sapiens clone ccsbBroadEn_11498 TIMM23B gene, encodes complete protein.
CU687598 - Synthetic construct Homo sapiens gateway clone IMAGE:100022373 5' read TIMM23 mRNA.
DQ601560 - Homo sapiens piRNA piR-39626, complete sequence.
JD236028 - Sequence 217052 from Patent EP1572962.
JD470322 - Sequence 451346 from Patent EP1572962.
JD462215 - Sequence 443239 from Patent EP1572962.
MA585455 - JP 2018138019-A/157381: Polycomb-Associated Non-Coding RNAs.

-  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: NM_006327, NP_006318, O14925, Q53FF8, Q5T1E6, Q6P5S5, TIM23, TIM23_HUMAN, uc001jiu.3
UCSC ID: uc001jiu.4
RefSeq Accession: NM_006327
Protein: O14925 (aka TIM23_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_006327.3
exon count: 7CDS single in 3' UTR: no RNA size: 1239
ORF size: 630CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1460.00frame shift in genome: no % Coverage: 98.87
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.