Human Gene TIMM50 (ENST00000607714.6_13) from GENCODE V47lift37
  Description: translocase of inner mitochondrial membrane 50, transcript variant 2 (from RefSeq NM_001329559.2)
Gencode Transcript: ENST00000607714.6_13
Gencode Gene: ENSG00000105197.11_17
Transcript (Including UTRs)
   Position: hg19 chr19:39,971,478-39,984,419 Size: 12,942 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr19:39,971,494-39,980,460 Size: 8,967 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:39,971,478-39,984,419)mRNA (may differ from genome)Protein (353 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TIM50_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial import inner membrane translocase subunit TIM50; Flags: Precursor;
FUNCTION: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body.
SUBUNIT: Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. Interacts directly with TIMM23. Isoform 2 interacts with COIL and snRNPs.
INTERACTION: P10398:ARAF; NbExp=3; IntAct=EBI-355175, EBI-365961; P04049:RAF1; NbExp=3; IntAct=EBI-355175, EBI-365996;
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Nucleus speckle. Note=Nuclear and enriched in speckles with snRNPs.
TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level).
DOMAIN: The FCP1 homology domain does not contain the canonical D- x-D-x-[TV] active site, suggesting that it probably does not display phosphatase activity in vivo.
SIMILARITY: Belongs to the TIM50 family.
SIMILARITY: Contains 1 FCP1 homology domain.
SEQUENCE CAUTION: Sequence=AAG35534.1; Type=Miscellaneous discrepancy; Note=Chimera;

-  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: TIMM50
Diseases sorted by gene-association score: 3-methylglutaconic aciduria (8)

-  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: 33.72 RPKM in Testis
Total median expression: 533.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.7016-0.169 Picture PostScript Text
3' UTR -1929.903959-0.487 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
IPR023214 - HAD-like_dom
IPR004274 - NIF

Pfam Domains:
PF03031 - NLI interacting factor-like phosphatase

SCOP Domains:
56784 - HAD-like

ModBase Predicted Comparative 3D Structure on Q3ZCQ8
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004721 phosphoprotein phosphatase activity
GO:0004722 protein serine/threonine phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005134 interleukin-2 receptor binding
GO:0005515 protein binding
GO:0043021 ribonucleoprotein complex binding

Biological Process:
GO:0001836 release of cytochrome c from mitochondria
GO:0006470 protein dephosphorylation
GO:0007006 mitochondrial membrane organization
GO:0015031 protein transport
GO:0030150 protein import into mitochondrial matrix
GO:0035335 peptidyl-tyrosine dephosphorylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
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:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  BC121146 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone MGC:150482 IMAGE:40121256), complete cds.
BC121147 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone MGC:150483 IMAGE:40121258), complete cds.
KJ899951 - Synthetic construct Homo sapiens clone ccsbBroadEn_09345 TIMM50 gene, encodes complete protein.
BC050082 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:5278031), partial cds.
AY551341 - Homo sapiens translocase of inner mitochondrial membrane 50-like protein mRNA, complete cds; nuclear gene for mitochondrial product.
BC010736 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3900630), partial cds.
AY444561 - Homo sapiens TIM50L mRNA, complete cds.
BC009072 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3868486), partial cds.
AF130109 - Homo sapiens clone FLB5740 PRO1512 mRNA, complete cds.
BC105970 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4707535), **** WARNING: chimeric clone ****.
KJ903586 - Synthetic construct Homo sapiens clone ccsbBroadEn_12980 TIMM50 gene, encodes complete protein.
AK098197 - Homo sapiens cDNA FLJ40878 fis, clone UTERU1000093.
BC014674 - Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3856944).
JD104732 - Sequence 85756 from Patent EP1572962.
JD325806 - Sequence 306830 from Patent EP1572962.
JD111444 - Sequence 92468 from Patent EP1572962.
JD382303 - Sequence 363327 from Patent EP1572962.
JD066496 - Sequence 47520 from Patent EP1572962.
JD051805 - Sequence 32829 from Patent EP1572962.
JD202365 - Sequence 183389 from Patent EP1572962.
JD301331 - Sequence 282355 from Patent EP1572962.
JD278143 - Sequence 259167 from Patent EP1572962.
JD333555 - Sequence 314579 from Patent EP1572962.
JD485946 - Sequence 466970 from Patent EP1572962.
JD228240 - Sequence 209264 from Patent EP1572962.
JD428372 - Sequence 409396 from Patent EP1572962.
JD293405 - Sequence 274429 from Patent EP1572962.
JD135094 - Sequence 116118 from Patent EP1572962.
JD361635 - Sequence 342659 from Patent EP1572962.
JD325128 - Sequence 306152 from Patent EP1572962.
JD120466 - Sequence 101490 from Patent EP1572962.
JD310543 - Sequence 291567 from Patent EP1572962.
JD183550 - Sequence 164574 from Patent EP1572962.
JD357872 - Sequence 338896 from Patent EP1572962.
JD518670 - Sequence 499694 from Patent EP1572962.
JD340660 - Sequence 321684 from Patent EP1572962.
JD181355 - Sequence 162379 from Patent EP1572962.
JD286607 - Sequence 267631 from Patent EP1572962.
JD439152 - Sequence 420176 from Patent EP1572962.
JD540536 - Sequence 521560 from Patent EP1572962.
JD434972 - Sequence 415996 from Patent EP1572962.
JD307142 - Sequence 288166 from Patent EP1572962.
JD323016 - Sequence 304040 from Patent EP1572962.
JD401739 - Sequence 382763 from Patent EP1572962.
JD084732 - Sequence 65756 from Patent EP1572962.
JD125715 - Sequence 106739 from Patent EP1572962.
JD515325 - Sequence 496349 from Patent EP1572962.
JD292559 - Sequence 273583 from Patent EP1572962.
JD534796 - Sequence 515820 from Patent EP1572962.
JD366412 - Sequence 347436 from Patent EP1572962.
JD117057 - Sequence 98081 from Patent EP1572962.
JD401963 - Sequence 382987 from Patent EP1572962.
JD106696 - Sequence 87720 from Patent EP1572962.
AK097291 - Homo sapiens cDNA FLJ39972 fis, clone SPLEN2028138.
JD500078 - Sequence 481102 from Patent EP1572962.
JD493455 - Sequence 474479 from Patent EP1572962.
JD558438 - Sequence 539462 from Patent EP1572962.
JD441676 - Sequence 422700 from Patent EP1572962.
JD254025 - Sequence 235049 from Patent EP1572962.
JD396151 - Sequence 377175 from Patent EP1572962.
JD330831 - Sequence 311855 from Patent EP1572962.
JD119919 - Sequence 100943 from Patent EP1572962.
JD106862 - Sequence 87886 from Patent EP1572962.
JD212751 - Sequence 193775 from Patent EP1572962.
JD198145 - Sequence 179169 from Patent EP1572962.
JD413451 - Sequence 394475 from Patent EP1572962.
JD327704 - Sequence 308728 from Patent EP1572962.
JD561331 - Sequence 542355 from Patent EP1572962.
JD471939 - Sequence 452963 from Patent EP1572962.
JD430666 - Sequence 411690 from Patent EP1572962.
JD240295 - Sequence 221319 from Patent EP1572962.
JD056712 - Sequence 37736 from Patent EP1572962.
JD556285 - Sequence 537309 from Patent EP1572962.
JD522241 - Sequence 503265 from Patent EP1572962.
JD556286 - Sequence 537310 from Patent EP1572962.
JD116037 - Sequence 97061 from Patent EP1572962.
JD425434 - Sequence 406458 from Patent EP1572962.
JD454382 - Sequence 435406 from Patent EP1572962.
JD110249 - Sequence 91273 from Patent EP1572962.
JD136110 - Sequence 117134 from Patent EP1572962.
JD243169 - Sequence 224193 from Patent EP1572962.
JD266443 - Sequence 247467 from Patent EP1572962.
JD144174 - Sequence 125198 from Patent EP1572962.
JD448520 - Sequence 429544 from Patent EP1572962.
JD257737 - Sequence 238761 from Patent EP1572962.
JD144099 - Sequence 125123 from Patent EP1572962.
AK092396 - Homo sapiens cDNA FLJ35077 fis, clone PLACE6002157.
JD139564 - Sequence 120588 from Patent EP1572962.
JD139565 - Sequence 120589 from Patent EP1572962.
JD477175 - Sequence 458199 from Patent EP1572962.
JD142500 - Sequence 123524 from Patent EP1572962.
JD477176 - Sequence 458200 from Patent EP1572962.
JD442804 - Sequence 423828 from Patent EP1572962.
JD456450 - Sequence 437474 from Patent EP1572962.
JD264086 - Sequence 245110 from Patent EP1572962.

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

Protein Q3ZCQ8 (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: ENST00000607714.1, ENST00000607714.2, ENST00000607714.3, ENST00000607714.4, ENST00000607714.5, NM_001329559, PRO1512, Q330K1, Q3ZCQ8, Q6QA00, Q96FJ5, Q96GY2, Q9H370, TIM50, TIM50_HUMAN, uc327kqj.1, uc327kqj.2
UCSC ID: ENST00000607714.6_13
RefSeq Accession: NM_001001563.5
Protein: Q3ZCQ8 (aka TIM50_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.