Human Gene YME1L1 (uc001itj.3) Description and Page Index
  Description: Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.
RefSeq Summary (NM_014263): The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr10:27,399,040-27,443,349 Size: 44,310 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr10:27,400,906-27,443,139 Size: 42,234 Coding Exon Count: 19 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:27,399,040-27,443,349)mRNA (may differ from genome)Protein (716 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): YME1L1
CDC HuGE Published Literature: YME1L1

-  MalaCards Disease Associations
  MalaCards Gene Search: YME1L1
Diseases sorted by gene-association score: optic atrophy 11* (1279), spastic paraplegia 7, autosomal recessive (8), asphyxia neonatorum (8), cervix disease (5), urethritis (5), optic atrophy plus syndrome (4)
* = Manually curated disease association

-  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 Cells - EBV-transformed lymphocytes
Total median expression: 864.73 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 -94.00210-0.448 Picture PostScript Text
3' UTR -518.231866-0.278 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
  Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF01434 - Peptidase family M41

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q96TA2-2
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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  AJ132637 - Homo sapiens mRNA for ATP-dependent metalloprotease YME1L.
AF151782 - Homo sapiens ATP-dependent metalloprotease FtsH1 homolog (MEG4) mRNA, complete cds.
JD173906 - Sequence 154930 from Patent EP1572962.
JD419821 - Sequence 400845 from Patent EP1572962.
JD351099 - Sequence 332123 from Patent EP1572962.
JD177443 - Sequence 158467 from Patent EP1572962.
JD378197 - Sequence 359221 from Patent EP1572962.
JD455047 - Sequence 436071 from Patent EP1572962.
JD221870 - Sequence 202894 from Patent EP1572962.
JD220213 - Sequence 201237 from Patent EP1572962.
JD233251 - Sequence 214275 from Patent EP1572962.
JD401940 - Sequence 382964 from Patent EP1572962.
BC023507 - Homo sapiens YME1-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:3533 IMAGE:3637576), complete cds.
AK001259 - Homo sapiens cDNA FLJ10397 fis, clone NT2RM4000344, highly similar to Homo sapiens mRNA for ATP-dependent metalloprotease YME1L.
JD527131 - Sequence 508155 from Patent EP1572962.
JD047690 - Sequence 28714 from Patent EP1572962.
JD197094 - Sequence 178118 from Patent EP1572962.
JD429639 - Sequence 410663 from Patent EP1572962.
JD079155 - Sequence 60179 from Patent EP1572962.
JD275257 - Sequence 256281 from Patent EP1572962.
JD356782 - Sequence 337806 from Patent EP1572962.
JD417771 - Sequence 398795 from Patent EP1572962.
JD376827 - Sequence 357851 from Patent EP1572962.
JD381006 - Sequence 362030 from Patent EP1572962.
JD208952 - Sequence 189976 from Patent EP1572962.
JD179347 - Sequence 160371 from Patent EP1572962.
JD208870 - Sequence 189894 from Patent EP1572962.
JD488611 - Sequence 469635 from Patent EP1572962.
JD159056 - Sequence 140080 from Patent EP1572962.
JD472560 - Sequence 453584 from Patent EP1572962.
JD102200 - Sequence 83224 from Patent EP1572962.
JD238268 - Sequence 219292 from Patent EP1572962.
JD238267 - Sequence 219291 from Patent EP1572962.
JD513165 - Sequence 494189 from Patent EP1572962.
JD413011 - Sequence 394035 from Patent EP1572962.
JD230240 - Sequence 211264 from Patent EP1572962.
JD091124 - Sequence 72148 from Patent EP1572962.
JD314197 - Sequence 295221 from Patent EP1572962.
JD224025 - Sequence 205049 from Patent EP1572962.
AY358484 - Homo sapiens clone DNA82430 YME1L1 (UNQ1868) mRNA, complete cds.
BC024032 - Homo sapiens YME1-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:3532 IMAGE:2961446), complete cds.
AK297973 - Homo sapiens cDNA FLJ58153 complete cds, highly similar to ATP-dependent metalloprotease YME1L1 (EC 3.4.24.-).
BC007795 - Homo sapiens YME1-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:14089 IMAGE:4110395), complete cds.
AF070656 - Homo sapiens FtsH homolog mRNA, complete cds.
AK291292 - Homo sapiens cDNA FLJ77542 complete cds, highly similar to Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), transcript variant 3, mRNA.
AK314372 - Homo sapiens cDNA, FLJ95143.
AB384745 - Synthetic construct DNA, clone: pF1KB3092, Homo sapiens YME1L1 gene for ATP-dependent metalloprotease YME1L1, complete cds, without stop codon, in Flexi system.
AK309708 - Homo sapiens cDNA, FLJ99749.
CU692788 - Synthetic construct Homo sapiens gateway clone IMAGE:100021989 5' read YME1L1 mRNA.
BC019602 - Homo sapiens YME1-like 1 (S. cerevisiae), mRNA (cDNA clone IMAGE:3865669), complete cds.
AK022930 - Homo sapiens cDNA FLJ12868 fis, clone NT2RP2003704, weakly similar to Homo sapiens mRNA for ATP-dependent metalloprotease YME1L.
JD235652 - Sequence 216676 from Patent EP1572962.
JD081823 - Sequence 62847 from Patent EP1572962.
JD235748 - Sequence 216772 from Patent EP1572962.
JD292777 - Sequence 273801 from Patent EP1572962.

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

Protein Q96TA2 (Reactome details) participates in the following event(s):

R-HSA-8949664 Processing of SMDT1
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: FTSH1, NM_014263, NP_055078, Q96TA2-2, UNQ1868/PRO4304, YME1L
UCSC ID: uc001itj.3
RefSeq Accession: NM_014263
Protein: Q96TA2-2, splice isoform of Q96TA2 CCDS: CCDS7151.1, CCDS58072.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014263.3
exon count: 19CDS single in 3' UTR: no RNA size: 4232
ORF size: 2151CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4502.00frame shift in genome: no % Coverage: 99.88
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.