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Aliases for YME1L1 Gene

Aliases for YME1L1 Gene

  • YME1 Like 1 ATPase 2 3 5
  • Presenilin-Associated Metalloprotease 3 4
  • YME1-Like Protein 1 3 4
  • Meg-4 3 4
  • YME1L 3 4
  • PAMP 3 4
  • ATP-Dependent Metalloprotease FtsH1 Homolog 3
  • ATP-Dependent Zinc Metalloprotease YME1L1 3
  • ATP-Dependent Metalloprotease FtsH1 4
  • YME1-Like 1 (S. Cerevisiae) 2
  • YME1 (S.Cerevisiae)-Like 1 2
  • YME1-Like 1 ATPase 2
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • FTSH1 4
  • FTSH 3
  • MEG4 3

External Ids for YME1L1 Gene

Previous GeneCards Identifiers for YME1L1 Gene

  • GC10M027134
  • GC10M027549
  • GC10M027403
  • GC10M027439
  • GC10M027068

Summaries for YME1L1 Gene

Entrez Gene Summary for YME1L1 Gene

  • 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]

GeneCards Summary for YME1L1 Gene

YME1L1 (YME1 Like 1 ATPase) is a Protein Coding gene. Diseases associated with YME1L1 include Optic Atrophy Plus Syndrome. GO annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot for YME1L1 Gene

  • Putative ATP-dependent protease. Plays a role in mitochondrial organization and mitochondrial protein metabolism, including degradation of PRELID1 and OPA1 (PubMed:18076378, PubMed:27495975). 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. Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1).

Gene Wiki entry for YME1L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for YME1L1 Gene

Genomics for YME1L1 Gene

Regulatory Elements for YME1L1 Gene

Enhancers for YME1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F027225 0.7 ENCODE 11.7 -70.2 -70154 0.5 ZNF316 MAFG EMSY MAFK PRDM1 MASTL YME1L1 GC10P027215 GC10P027231
GH10F027224 0.8 ENCODE 11.7 -68.8 -68809 0.2 GTF3C2 ZNF121 CTCF SMC3 RAD21 ZNF18 MASTL YME1L1 GC10P027215 GC10P027231
GH10F027234 0.6 ENCODE 10.7 -79.1 -79117 0.7 ELF3 PKNOX1 ZNF384 FEZF1 ZNF121 ZNF664 ZNF316 TCF7L2 ZNF362 HLF MASTL YME1L1 LINC00202-2 RNU7-12P ACBD5
GH10F027072 0.7 ENCODE 10.5 +82.6 82642 0.2 CTCF CBX3 ZBTB33 MAFK LINC00202-1 MASTL YME1L1 GC10M027089 GC10P027057 RNU6-490P
GH10F027022 0.9 Ensembl ENCODE 10.1 +131.6 131612 1.4 MASTL LINC00202-1 YME1L1 PIR38783
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around YME1L1 on UCSC Golden Path with GeneCards custom track

Promoters for YME1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001421970 378 4201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for YME1L1 Gene

Chromosome:
10
Start:
27,110,111 bp from pter
End:
27,155,278 bp from pter
Size:
45,168 bases
Orientation:
Minus strand

Genomic View for YME1L1 Gene

Genes around YME1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YME1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YME1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YME1L1 Gene

Proteins for YME1L1 Gene

  • Protein details for YME1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96TA2-YMEL1_HUMAN
    Recommended name:
    ATP-dependent zinc metalloprotease YME1L1
    Protein Accession:
    Q96TA2
    Secondary Accessions:
    • B4DNM1
    • D3DRV8
    • D3DRV9
    • Q5T8D9
    • Q9H1Q0
    • Q9UMR9

    Protein attributes for YME1L1 Gene

    Size:
    773 amino acids
    Molecular mass:
    86455 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Exists in several complexes of 600-1100 kDa.

    Alternative splice isoforms for YME1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YME1L1 Gene

Selected DME Specific Peptides for YME1L1 Gene

Post-translational modifications for YME1L1 Gene

  • Proteolytically processed by mitochondrial processing peptidase (MPP) to generate the mature form.
  • Ubiquitination at Lys 237, Lys 253, Lys 258, Lys 269, Lys 363, Lys 385, Lys 446, Lys 524, and Lys 568
  • Modification sites at PhosphoSitePlus

Domains & Families for YME1L1 Gene

Gene Families for YME1L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96TA2

UniProtKB/Swiss-Prot:

YMEL1_HUMAN :
  • In the N-terminal section; belongs to the AAA ATPase family.
Family:
  • In the N-terminal section; belongs to the AAA ATPase family.
  • In the C-terminal section; belongs to the peptidase M41 family.
genes like me logo Genes that share domains with YME1L1: view

Function for YME1L1 Gene

Molecular function for YME1L1 Gene

UniProtKB/Swiss-Prot Function:
Putative ATP-dependent protease. Plays a role in mitochondrial organization and mitochondrial protein metabolism, including degradation of PRELID1 and OPA1 (PubMed:18076378, PubMed:27495975). 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. Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1).

Enzyme Numbers (IUBMB) for YME1L1 Gene

Gene Ontology (GO) - Molecular Function for YME1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004176 ATP-dependent peptidase activity IBA --
GO:0004222 metalloendopeptidase activity IEA --
GO:0005524 ATP binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,IBA --
genes like me logo Genes that share ontologies with YME1L1: view
genes like me logo Genes that share phenotypes with YME1L1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for YME1L1

miRNA for YME1L1 Gene

miRTarBase miRNAs that target YME1L1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for YME1L1 Gene

Localization for YME1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YME1L1 Gene

Mitochondrion inner membrane. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for YME1L1 Gene COMPARTMENTS Subcellular localization image for YME1L1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
chloroplast 3
cytosol 3
extracellular 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for YME1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 27495975
GO:0005743 mitochondrial inner membrane IEA,IDA 22262461
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with YME1L1: view

Pathways & Interactions for YME1L1 Gene

SuperPathways for YME1L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for YME1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006515 misfolded or incompletely synthesized protein catabolic process IMP 22262461
GO:0007005 mitochondrion organization IMP 22262461
GO:0008283 cell proliferation IMP 22262461
GO:0035694 mitochondrial protein catabolic process IMP 27495975
genes like me logo Genes that share ontologies with YME1L1: view

No data available for Pathways by source and SIGNOR curated interactions for YME1L1 Gene

Drugs & Compounds for YME1L1 Gene

(1) Drugs for YME1L1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with YME1L1: view

Transcripts for YME1L1 Gene

Unigene Clusters for YME1L1 Gene

YME1-like 1 (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for YME1L1 Gene

No ASD Table

Relevant External Links for YME1L1 Gene

GeneLoc Exon Structure for
YME1L1
ECgene alternative splicing isoforms for
YME1L1

Expression for YME1L1 Gene

mRNA expression in normal human tissues for YME1L1 Gene

Protein differential expression in normal tissues from HIPED for YME1L1 Gene

This gene is overexpressed in Nasal epithelium (27.4), Breast (16.9), Heart (7.3), and Lung (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for YME1L1 Gene



Protein tissue co-expression partners for YME1L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of YME1L1 Gene:

YME1L1

SOURCE GeneReport for Unigene cluster for YME1L1 Gene:

Hs.74647

mRNA Expression by UniProt/SwissProt for YME1L1 Gene:

Q96TA2-YMEL1_HUMAN
Tissue specificity: High expression in cardiac and skeletal muscle mitochondria.
genes like me logo Genes that share expression patterns with YME1L1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for YME1L1 Gene

Orthologs for YME1L1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YME1L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia YME1L1 34 35
  • 99.66 (n)
oppossum
(Monodelphis domestica)
Mammalia YME1L1 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia YME1L1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia YME1L1 34 35
  • 92.42 (n)
dog
(Canis familiaris)
Mammalia YME1L1 34 35
  • 92.26 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910779 34
  • 90.86 (n)
mouse
(Mus musculus)
Mammalia Yme1l1 34 16 35
  • 89.09 (n)
chicken
(Gallus gallus)
Aves YME1L1 34 35
  • 77.08 (n)
lizard
(Anolis carolinensis)
Reptilia YME1L1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia yme1l1 34
  • 74.83 (n)
zebrafish
(Danio rerio)
Actinopterygii yme1l1a 35
  • 71 (a)
OneToMany
yme1l1b 34 35
  • 69.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009973 34
  • 57.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3499 36 34 35
  • 57.07 (n)
worm
(Caenorhabditis elegans)
Secernentea ymel-1 34 35
  • 58.55 (n)
M03C11.5 36
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YME1 35 37
  • 36 (a)
OneToOne
wheat
(Triticum aestivum)
Liliopsida Ta.3718 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for YME1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for YME1L1 Gene

ENSEMBL:
Gene Tree for YME1L1 (if available)
TreeFam:
Gene Tree for YME1L1 (if available)

Paralogs for YME1L1 Gene

(8) SIMAP similar genes for YME1L1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with YME1L1: view

No data available for Paralogs for YME1L1 Gene

Variants for YME1L1 Gene

Sequence variations from dbSNP and Humsavar for YME1L1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs151176548 Likely benign 27,155,460(+) AGCCT(C/G)GAGGA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs796052141 Likely benign 27,126,786(-) TTTAG(A/G)TGGAG reference, missense
rs41282218 Benign 27,155,649(+) TAGGC(C/T)CTTCG intron-variant, upstream-variant-2KB
rs7907981 Benign 27,155,400(+) GTGTC(C/T)GCGGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs7907988 Benign 27,155,415(+) CTGTA(G/T)GCTGT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for YME1L1 Gene

Variant ID Type Subtype PubMed ID
esv2422253 CNV deletion 17116639
esv2664616 CNV deletion 23128226
esv3622707 CNV gain 21293372
esv3622708 CNV gain 21293372
nsv1116452 OTHER inversion 24896259

Variation tolerance for YME1L1 Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 73.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for YME1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YME1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YME1L1 Gene

Disorders for YME1L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for YME1L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
optic atrophy plus syndrome
  • 3-methylglutaconic aciduria type 3
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

YMEL1_HUMAN
  • Note=Defects in YME1L1 may cause a mitochondrial disorder characterized by infantile onset of intellectual disability, motor developmental delay, expressive speech delay, optic nerve atrophy associated with visual impairment, hearing impairment, but no facial dysmorphism. Lactate levels and lactate/pyruvate ratios are elevated in patients blood and/or cerebrospinal fluid. Muscle biopsy show mitochondria with altered cristae morphology and paracristalline inclusions. {ECO:0000269 PubMed:27495975}.

Relevant External Links for YME1L1

Genetic Association Database (GAD)
YME1L1
Human Genome Epidemiology (HuGE) Navigator
YME1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
YME1L1
genes like me logo Genes that share disorders with YME1L1: view

No data available for Genatlas for YME1L1 Gene

Publications for YME1L1 Gene

  1. YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis and cell proliferation. (PMID: 22262461) Stiburek L. … Zeman J. (Mol. Biol. Cell 2012) 2 3 4 64
  2. Identification and characterization of YME1L1, a novel paraplegin- related gene. (PMID: 10843804) Coppola M. … Incerti B. (Genomics 2000) 3 4 22 64
  3. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. (PMID: 27495975) Hartmann B. … Kaindl A.M. (Elife 2016) 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential. (PMID: 18076378) Guillery O. … Rojo M. (Biol. Cell 2008) 4 22 64

Products for YME1L1 Gene

Sources for YME1L1 Gene

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