• Gene id: 10730

Gene Summary

• Gene Symbol: YME1L1   Gene   UCSC   Ensembl
• Aliases: FTSH, MEG4, OPA11, PAMP, YME1L
• Gene name: YME1 like 1 ATPase
• Alternate names: ATP-dependent zinc metalloprotease YME1L1, ATP-dependent metalloprotease FtsH1 homolog, YME1-like protein 1, meg-4, presenilin-associated metalloprotease,
• Gene location: 10p12.1 (27155050: 27110110)     Exons: 6     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 607472

Protein Summary

• Protein general information: Q96TA2  
  • Name: ATP dependent zinc metalloprotease YME1L1 (EC 3.4.24. ) (ATP dependent metalloprotease FtsH1) (Meg 4) (Presenilin associated metalloprotease) (PAMP) (YME1 like protein 1)
  • Length: 773  
  • Mass: 86455
  • Tissue specificity: High expression in cardiac and skeletal muscle mitochondria. {ECO
• Sequence:

  MFSLSSTVQPQVTVPLSHLINAFHTPKNTSVSLSGVSVSQNQHRDVVPEHEAPSSECMFSDFLTKLNIVSIGKGK
  IFEGYRSMFMEPAKRMKKSLDTTDNWHIRPEPFSLSIPPSLNLRDLGLSELKIGQIDQLVENLLPGFCKGKNISS
  HWHTSHVSAQSFFENKYGNLDIFSTLRSSCLYRHHSRALQSICSDLQYWPVFIQSRGFKTLKSRTRRLQSTSERL
  AETQNIAPSFVKGFLLRDRGSDVESLDKLMKTKNIPEAHQDAFKTGFAEGFLKAQALTQKTNDSLRRTRLILFVL
  LLFGIYGLLKNPFLSVRFRTTTGLDSAVDPVQMKNVTFEHVKGVEEAKQELQEVVEFLKNPQKFTILGGKLPKGI
  LLVGPPGTGKTLLARAVAGEADVPFYYASGSEFDEMFVGVGASRIRNLFREAKANAPCVIFIDELDSVGGKRIES
  PMHPYSRQTINQLLAEMDGFKPNEGVIIIGATNFPEALDNALIRPGRFDMQVTVPRPDVKGRTEILKWYLNKIKF
  DQSVDPEIIARGTVGFSGAELENLVNQAALKAAVDGKEMVTMKELEFSKDKILMGPERRSVEIDNKNKTITAYHE
  SGHAIIAYYTKDAMPINKATIMPRGPTLGHVSLLPENDRWNETRAQLLAQMDVSMGGRVAEELIFGTDHITTGAS
  SDFDNATKIAKRMVTKFGMSEKLGVMTYSDTGKLSPETQSAIEQEIRILLRDSYERAKHILKTHAKEHKNLAEAL
  LTYETLDAKEIQIVLEGKKLEVR

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR003959  IPR003960  IPR005936   IPR027417  IPR000642  IPR037219  
  • Prosite: PS00674
  • STRING: ENSP00000318480
• Other Databases: GeneCards:  YME1L1  Malacards:  YME1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IBA	biological process
GO:0007005	mitochondrion organization	IBA	biological process
GO:0004176	ATP-dependent peptidase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IBA	biological process
GO:0034214	protein hexamerization	IDA	biological process
GO:0004176	ATP-dependent peptidase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0007005	mitochondrion organization	IMP	biological process
GO:0034982	mitochondrial protein processing	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0007005	mitochondrion organization	IMP	biological process
GO:0035694	mitochondrial protein catabolic process	IMP	biological process
GO:0035694	mitochondrial protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004176	ATP-dependent peptidase activity	IMP	molecular function
GO:0008283	cell population proliferation	IMP	biological process
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IMP	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0034982	mitochondrial protein processing	IEA	biological process
GO:0004176	ATP-dependent peptidase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Optic atrophy	KEGG:H01020
Optic atrophy	KEGG:H01020
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray