Human Gene TIMM44 (uc002miz.3)
  Description: Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_006351): This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016].
Transcript (Including UTRs)
   Position: hg19 chr19:7,991,603-8,008,708 Size: 17,106 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr19:7,992,072-8,008,536 Size: 16,465 Coding Exon Count: 13 

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 (chr19:7,991,603-8,008,708)mRNA (may differ from genome)Protein (452 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TIM44_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial import inner membrane translocase subunit TIM44; Flags: Precursor;
FUNCTION: Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source.
SUBUNIT: Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity). The complex interacts with the TIMM23 component of the TIM23 complex.
INTERACTION: P10398:ARAF; NbExp=3; IntAct=EBI-861737, EBI-365961;
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
SIMILARITY: Belongs to the Tim44 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): TIMM44
CDC HuGE Published Literature: TIMM44

-  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: 24.53 RPKM in Colon - Sigmoid
Total median expression: 822.60 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 -59.50172-0.346 Picture PostScript Text
3' UTR -209.62469-0.447 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
IPR017303 - Tim44
IPR007379 - Tim44-related/Ribosome_L45

Pfam Domains:
PF04280 - Tim44-like domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CW9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43615
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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 BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0051087 chaperone binding

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

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AF026030 - Homo sapiens putative mitochondrial inner membrane protein import receptor (hTIM44) mRNA, nuclear gene encoding mitochondrial protein, complete cds.
BC000679 - Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast), mRNA (cDNA clone IMAGE:3350205), **** WARNING: chimeric clone ****.
BC033628 - Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast), mRNA (cDNA clone MGC:40321 IMAGE:5248163), complete cds.
AK289634 - Homo sapiens cDNA FLJ75196 complete cds, highly similar to Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast), mRNA.
AK223062 - Homo sapiens mRNA for translocase of inner mitochondrial membrane 44 homolog, clone: KAT00519.
AF041254 - Homo sapiens translocase of inner mitochondrial membrane Tim44 precursor mRNA, nuclear gene encoding mitochondrial protein, partial cds.
DQ894486 - Synthetic construct Homo sapiens clone IMAGE:100008946; FLH170897.01L; RZPDo839C1199D translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44) gene, encodes complete protein; nuclear gene for mitochondrial product.
KJ893051 - Synthetic construct Homo sapiens clone ccsbBroadEn_02445 TIMM44 gene, encodes complete protein.
KR710829 - Synthetic construct Homo sapiens clone CCSBHm_00017554 TIMM44 (TIMM44) mRNA, encodes complete protein.
KR710830 - Synthetic construct Homo sapiens clone CCSBHm_00017555 TIMM44 (TIMM44) mRNA, encodes complete protein.
DQ891301 - Synthetic construct clone IMAGE:100003931; FLH170901.01X; RZPDo839C11100D translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44) gene, encodes complete protein; nuclear gene for mitochondrial product.
AB590328 - Synthetic construct DNA, clone: pFN21AE2215, Homo sapiens TIMM44 gene for translocase of inner mitochondrial membrane 44 homolog, without stop codon, in Flexi system.
AK309415 - Homo sapiens cDNA, FLJ99456.
CR627419 - Homo sapiens mRNA; cDNA DKFZp686H05241 (from clone DKFZp686H05241).
JD422298 - Sequence 403322 from Patent EP1572962.
JD389792 - Sequence 370816 from Patent EP1572962.
JD157868 - Sequence 138892 from Patent EP1572962.
JD125397 - Sequence 106421 from Patent EP1572962.
CU689670 - Synthetic construct Homo sapiens gateway clone IMAGE:100019467 5' read TIMM44 mRNA.
X58234 - Human mRNA for anti-lectin antibody epitope (clone p36/8-5).

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

Protein O43615 (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-1299478 MPP cleaves targeting peptide (presequence) of matrix precursors
R-HSA-1299476 MPP cleaves targeting peptide (presequence) of inner membrane precursors
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0R9, D6W664, MIMT44, NM_006351, NP_006342, O43615, Q8N193, TIM44, TIM44_HUMAN
UCSC ID: uc002miz.3
RefSeq Accession: NM_006351
Protein: O43615 (aka TIM44_HUMAN or IM44_HUMAN)
CCDS: CCDS12192.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006351.3
exon count: 13CDS single in 3' UTR: no RNA size: 2017
ORF size: 1359CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2797.00frame shift in genome: no % Coverage: 99.16
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.