YME1L1

Protein identityUniProt · HPA

UniProt accession

Q96TA2

Gene

YME1L1

Ensembl

ENSG00000136758

Chromosome

10

Canonical length

773 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nuclear bodies,Mitochondria

Quaternary structure

Homohexamer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

773 residues, UniProt reviewed canonical sequence.

>Q96TA2|YME1L1
     1  MFSLSSTVQP QVTVPLSHLI NAFHTPKNTS VSLSGVSVSQ NQHRDVVPEH EAPSSECMFS
    61  DFLTKLNIVS IGKGKIFEGY RSMFMEPAKR MKKSLDTTDN WHIRPEPFSL SIPPSLNLRD
   121  LGLSELKIGQ IDQLVENLLP GFCKGKNISS HWHTSHVSAQ SFFENKYGNL DIFSTLRSSC
   181  LYRHHSRALQ SICSDLQYWP VFIQSRGFKT LKSRTRRLQS TSERLAETQN IAPSFVKGFL
   241  LRDRGSDVES LDKLMKTKNI PEAHQDAFKT GFAEGFLKAQ ALTQKTNDSL RRTRLILFVL
   301  LLFGIYGLLK NPFLSVRFRT TTGLDSAVDP VQMKNVTFEH VKGVEEAKQE LQEVVEFLKN
   361  PQKFTILGGK LPKGILLVGP PGTGKTLLAR AVAGEADVPF YYASGSEFDE MFVGVGASRI
   421  RNLFREAKAN APCVIFIDEL DSVGGKRIES PMHPYSRQTI NQLLAEMDGF KPNEGVIIIG
   481  ATNFPEALDN ALIRPGRFDM QVTVPRPDVK GRTEILKWYL NKIKFDQSVD PEIIARGTVG
   541  FSGAELENLV NQAALKAAVD GKEMVTMKEL EFSKDKILMG PERRSVEIDN KNKTITAYHE
   601  SGHAIIAYYT KDAMPINKAT IMPRGPTLGH VSLLPENDRW NETRAQLLAQ MDVSMGGRVA
   661  EELIFGTDHI TTGASSDFDN ATKIAKRMVT KFGMSEKLGV MTYSDTGKLS PETQSAIEQE
   721  IRILLRDSYE RAKHILKTHA KEHKNLAEAL LTYETLDAKE IQIVLEGKKL EVR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against YME1L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

103 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about YME1L1.

Disease | AllUniProt

Conditions YME1L1 is implicated in, by any mechanism.

• Optic atrophy 11 (OPA11) MIM:617302

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 308 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Optic atrophy 11
• 3-Methylglutaconic aciduria

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.45

gnomAD pLI

0.03

gnomAD missense Z

2.51

DepMap mean gene effect

-0.27

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell population proliferation
• cellular response to starvation
• mitochondrial protein catabolic process
• mitochondrial protein processing
• mitochondrion organization
• negative regulation of apoptotic process
• neuronal stem cell population maintenance
• positive regulation of mitochondrial fusion
• protein hexamerization
• protein quality control for misfolded or incompletely synthesized proteins
• regulation of stem cell division

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATP-dependent peptidase activity
• metal ion binding
• metalloendopeptidase activity

Cellular components

• membrane
• mitochondrial inner membrane
• mitochondrion
• nuclear body

Protein domainsUniProt · Pfam · InterPro

• Peptidase M41
• AAA+ ATPase domain
• ATPase, AAA-type, core
• ATPase, AAA-type, conserved site
• ATP-dependent zinc metalloprotease, FtsH
• P-loop containing nucleoside triphosphate hydrolase
• Peptidase M41-like
• AAA ATPase, AAA+ lid domain
• ATPase family associated with various cellular activities (AAA)
• Peptidase family M41
• AAA+ lid domain

KeywordsUniProt

• ATP-binding
• Hydrolase
• Membrane
• Metal-binding
• Metalloprotease
• Mitochondrion
• Mitochondrion inner membrane
• Nucleotide-binding
• Protease
• Transmembrane
• Transmembrane helix
• Zinc

InteractionsUniProt · HPA

Protein binding partners of YME1L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AFG1L