Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10730
Gene name Gene Name - the full gene name approved by the HGNC.
YME1 like 1 ATPase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
YME1L1
Synonyms (NCBI Gene) Gene synonyms aliases
FTSH, MEG4, OPA11, PAMP, YME1L
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.1
Summary Summary of gene provided in NCBI Entrez 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 mit
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519312 G>A,C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030882 hsa-miR-21-5p Microarray 18591254
MIRT043391 hsa-miR-331-3p CLASH 23622248
MIRT697597 hsa-miR-4779 HITS-CLIP 23313552
MIRT697596 hsa-miR-383-3p HITS-CLIP 23313552
MIRT697595 hsa-miR-151a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004176 Function ATP-dependent peptidase activity IBA
GO:0004176 Function ATP-dependent peptidase activity IDA 24315374, 27786171, 31695197, 33237841, 36206740
GO:0004176 Function ATP-dependent peptidase activity IEA
GO:0004176 Function ATP-dependent peptidase activity IMP 27495975
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607472 12843 ENSG00000136758
Protein
UniProt ID Q96TA2
Protein name ATP-dependent zinc metalloprotease YME1L1 (EC 3.4.24.-) (EC 3.6.-.-) (ATP-dependent metalloprotease FtsH1) (Meg-4) (Presenilin-associated metalloprotease) (PAMP) (YME1-like protein 1)
Protein function ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (PubMed:24315374, PubMed:26923599, PubMed:27786171, PubMed:31695197, PubMed:33
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 375 506 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 528 572 AAA+ lid domain Domain
PF01434 Peptidase_M41 586 764 Peptidase family M41 Domain
Tissue specificity TISSUE SPECIFICITY: High expression in cardiac and skeletal muscle mitochondria. {ECO:0000269|PubMed:22262461}.
Sequence
MFSLSSTVQPQVTVPLSHLINAFHTPKNTSVSLSGVSVSQNQHRDVVPEHEAPSSECMFS
DFLTKLNIVSIGKGKIFEGYRSMFMEPAKRMKKSLDTTDNWHIRPEPFSLSIPPSLNLRD
LGLSELKIGQIDQLVENLLPGFCKGKNISSHWHTSHVSAQSFFENKYGNLDIFSTLRSSC
LYRHHSRALQSICSDLQYWPVFIQSRGFKTLKSRTRRLQSTSERLAETQNIAPSFVKGFL
LRDRGSDVESLDKLMKTKNIPEAHQDAFKTGFAEGFLKAQALTQKTNDSLRRTRLILFVL
LLFGIYGLLKNPFLSVRFRTTTGLDSAVDPVQMKNVTFEHVKGVEEAKQELQEVVEFLKN
PQKFTILGGKLPKGILLVGPPGTGKTLLARAVAGEADVPFYYASGSEFDEMFVGVGASRI
RNLFREAKANAPCVIFIDELDSVGGKRIESPMHPYSRQTINQLLAEMDGFKPNEGVIIIG
ATNFPEALDNALIRPGRFDMQVTVPR
PDVKGRTEILKWYLNKIKFDQSVDPEIIARGTVG
FSGAELENLVNQAALKAAVDGKEMVTMKELEF
SKDKILMGPERRSVEIDNKNKTITAYHE
SGHAIIAYYTKDAMPINKATIMPRGPTLGHVSLLPENDRWNETRAQLLAQMDVSMGGRVA
EELIFGTDHITTGASSDFDNATKIAKRMVTKFGMSEKLGVMTYSDTGKLSPETQSAIEQE
IRILLRDSYERAKHILKTHAKEHKNLAEALLTYETLDAKEIQIV
LEGKKLEVR
Sequence length 773
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Processing of SMDT1
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Optic Atrophy optic atrophy 11 rs1057519312 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Microcephaly microcephaly N/A N/A ClinVar
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Stimulate 26687188
Colonic Neoplasms Associate 28356157
Colorectal Neoplasms Associate 28356157
Death Associate 19602686
Glioblastoma Associate 19602686
Mitochondrial Diseases Associate 24176854, 27495975
Neoplasms Associate 19602686, 28356157, 30859632, 36423401
Neuroblastoma Associate 30859632
Neurodegenerative Diseases Associate 30859632
Optic Atrophy Associate 27495975