Human Gene TIMM17B (ENST00000696123.1_4) from GENCODE V47lift37
  Description: translocase of inner mitochondrial membrane 17B, transcript variant 4 (from RefSeq NM_001395498.1)
Gencode Transcript: ENST00000696123.1_4
Gencode Gene: ENSG00000126768.13_10
Transcript (Including UTRs)
   Position: hg19 chrX:48,750,732-48,755,051 Size: 4,320 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chrX:48,751,012-48,755,032 Size: 4,021 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:48,750,732-48,755,051)mRNA (may differ from genome)Protein (172 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MGIPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: TI17B_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial import inner membrane translocase subunit Tim17-B;
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. The complex interacts with the TIMM44 component of the PAM complex.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expression is abundant in heart and skeletal muscle, intermediate in brain, and weak in pancreas, placenta, kidney and liver.
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


-  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 -5.8019-0.305 Picture PostScript Text
3' UTR -114.40280-0.409 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
IPR005678 - Tim17
IPR003397 - Tim17/Tim22/Tim23/PMP24

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

ModBase Predicted Comparative 3D Structure on O60830
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 orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  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:0016020 membrane
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane


-  Descriptions from all associated GenBank mRNAs
  LF385298 - JP 2014500723-A/192801: Polycomb-Associated Non-Coding RNAs.
AJ005895 - Homo sapiens mRNA for (JM3) preprotein translocase, complete CDS (clone IMAGE 345224 and LLOXNC01U138D3 (Baylor College)).
BC010142 - Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast), mRNA (cDNA clone MGC:19550 IMAGE:4300787), complete cds.
AF077039 - Homo sapiens inner mitochondrial membrane translocase TIM17 homolog mRNA, nuclear gene encoding mitochondrial protein, complete cds.
BC091473 - Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast), mRNA (cDNA clone IMAGE:30338742), with apparent retained intron.
BC028017 - Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast), mRNA (cDNA clone IMAGE:5216715), with apparent retained intron.
AF034790 - Homo sapiens inner mitochondrial membrane translocase Tim17b mRNA, nuclear gene encoding mitochondrial protein, complete cds.
LF379121 - JP 2014500723-A/186624: Polycomb-Associated Non-Coding RNAs.
JD121331 - Sequence 102355 from Patent EP1572962.
JD544440 - Sequence 525464 from Patent EP1572962.
JD142699 - Sequence 123723 from Patent EP1572962.
AK290207 - Homo sapiens cDNA FLJ76530 complete cds, highly similar to Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast) (TIMM17B), mRNA.
JD277202 - Sequence 258226 from Patent EP1572962.
JD468742 - Sequence 449766 from Patent EP1572962.
KJ892974 - Synthetic construct Homo sapiens clone ccsbBroadEn_02368 TIMM17B gene, encodes complete protein.
LF379120 - JP 2014500723-A/186623: Polycomb-Associated Non-Coding RNAs.
JD024949 - Sequence 5973 from Patent EP1572962.
JD030186 - Sequence 11210 from Patent EP1572962.
LF379119 - JP 2014500723-A/186622: Polycomb-Associated Non-Coding RNAs.
JD025294 - Sequence 6318 from Patent EP1572962.
BC029446 - Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast), mRNA (cDNA clone IMAGE:4696481), partial cds.
MA620875 - JP 2018138019-A/192801: Polycomb-Associated Non-Coding RNAs.
MA614698 - JP 2018138019-A/186624: Polycomb-Associated Non-Coding RNAs.
MA614697 - JP 2018138019-A/186623: Polycomb-Associated Non-Coding RNAs.
MA614696 - JP 2018138019-A/186622: Polycomb-Associated Non-Coding RNAs.

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

Protein O60830 (Reactome details) participates in the following event(s):

R-HSA-1299481 TIMM9:TIMM10 binds hydrophobic proteins
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-1955380 TIMM9:TIMM10 transfers proteins to TIMM22
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: A8K2E2, J3KPV3, JM3, NM_001395498, O60830, Q9UJV0, TI17B_HUMAN, TIM17B, uc331amt.1, uc331amt.2
UCSC ID: ENST00000696123.1_4
RefSeq Accession: NM_001395498.1
Protein: O60830 (aka TI17B_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.