Gene Gene information from NCBI Gene database.
Entrez ID 10730
Gene name YME1 like 1 ATPase
Gene symbol YME1L1
Synonyms (NCBI Gene)
FTSHMEG4OPA11PAMPYME1L
Chromosome 10
Chromosome location 10p12.1
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs1057519312 G>A,C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
666
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607472 12843 ENSG00000136758
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Optic atrophy 11 Pathogenic rs1057519312 RCV000415698
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OPTIC ATROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long QT syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 26687188 Stimulate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31695197
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 26079624
★☆☆☆☆
Found in Text Mining only
Autosomal recessive isolated optic atrophy Optic Atrophy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain atrophy Brain atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 31439414
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 28356157 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28356157 Associate
★☆☆☆☆
Found in Text Mining only