Human Gene YME1L1 (ENST00000376016.8_7) from GENCODE V47lift37
  Description: YME1 like 1 ATPase, transcript variant 3 (from RefSeq NM_014263.4)
Gencode Transcript: ENST00000376016.8_7
Gencode Gene: ENSG00000136758.21_11
Transcript (Including UTRs)
   Position: hg19 chr10:27,399,040-27,443,313 Size: 44,274 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 LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:27,399,040-27,443,313)mRNA (may differ from genome)Protein (716 aa)
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-  Comments and Description Text from UniProtKB
  ID: YMEL1_HUMAN
DESCRIPTION: RecName: Full=ATP-dependent zinc metalloprotease YME1L1; EC=3.4.24.-; AltName: Full=ATP-dependent metalloprotease FtsH1; AltName: Full=Meg-4; AltName: Full=Presenilin-associated metalloprotease; Short=PAMP; AltName: Full=YME1-like protein 1;
FUNCTION: Putative ATP-dependent protease which plays a role in mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins. Requires to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1). Seems to act in the processing of OPA1.
COFACTOR: Binds 1 zinc ion per subunit (Potential).
SUBUNIT: Exists in several complexes of 600-1100 kDa.
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
TISSUE SPECIFICITY: High expression in cardiac and skeletal muscle mitochondria.
SIMILARITY: In the N-terminal section; belongs to the AAA ATPase family.
SIMILARITY: In the C-terminal section; belongs to the peptidase M41 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


-  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

+  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 -71.00174-0.408 Picture PostScript Text
3' UTR -486.901866-0.261 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
IPR003593 - AAA+_ATPase
IPR003959 - ATPase_AAA_core
IPR003960 - ATPase_AAA_CS
IPR005936 - FtsH
IPR000642 - Peptidase_M41

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF01434 - Peptidase family M41
PF17862 - AAA+ lid domain

SCOP Domains:
140990 - FtsH protease domain-like
52467 - DHS-like NAD/FAD-binding domain
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on Q96TA2
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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 Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004176 ATP-dependent peptidase activity
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0006515 misfolded or incompletely synthesized protein catabolic process
GO:0007005 mitochondrion organization
GO:0008283 cell proliferation
GO:0034214 protein hexamerization
GO:0034982 mitochondrial protein processing
GO:0035694 mitochondrial protein catabolic process
GO:0043066 negative regulation of apoptotic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016604 nuclear body


-  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: B4DNM1, D3DRV8, D3DRV9, ENST00000376016.1, ENST00000376016.2, ENST00000376016.3, ENST00000376016.4, ENST00000376016.5, ENST00000376016.6, ENST00000376016.7, FTSH1, NM_014263, Q5T8D9, Q96TA2, Q9H1Q0, Q9UMR9, uc318mrb.1, uc318mrb.2, UNQ1868/PRO4304, YME1L, YMEL1_HUMAN
UCSC ID: ENST00000376016.8_7
RefSeq Accession: NM_014263.4
Protein: Q96TA2 (aka YMEL1_HUMAN or YME1_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.