YME1L1 YME1 like 1 ATPase [Homo sapiens (human)] - Gene

Summary

Official Symbol: YME1L1provided by HGNC
Official Full Name: YME1 like 1 ATPaseprovided by HGNC
Primary source: HGNC:HGNC:12843
See related: Ensembl:ENSG00000136758 MIM:607472; AllianceGenome:HGNC:12843
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FTSH; MEG4; PAMP; OPA11; YME1L
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 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]
Expression: Ubiquitous expression in thyroid (RPKM 32.8), testis (RPKM 26.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (27110111..27154384, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (27140165..27184407, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (27399040..27443313, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mitochondrial protein YME1 Like 1 is important for non-small cell lung cancer cell growth.
Title: The mitochondrial protein YME1 Like 1 is important for non-small cell lung cancer cell growth.
Regulation of mitochondrial plasticity by the i-AAA protease YME1L.
Title: Regulation of mitochondrial plasticity by the i-AAA protease YME1L.
Examination of the Role of Mg(2+) in the Mechanism of Nucleotide Binding to the Monomeric YME1L AAA+ Domain.
Title: Examination of the Role of Mg(2+) in the Mechanism of Nucleotide Binding to the Monomeric YME1L AAA+ Domain.
identify the mTORC1-LIPIN1-YME1L axis as a post-translational regulator of mitochondrial proteostasis at the interface between metabolism and mitochondrial dynamics
Title: Lipid signalling drives proteolytic rewiring of mitochondria by YME1L.
in the absence of ROMO1, mitochondria lose the inner membrane YME1L protease, which participates in OPA1 processing and ROMO1 turnover. While ROMO1 is dispensable for general protein import along the presequence pathway, we show that it participates in the dynamics of TIM21 during respiratory chain biogenesis and is specifically required for import of YME1L.
Title: ROMO1 is a constituent of the human presequence translocase required for YME1L protease import.
Data show that engineered YME1L protease discriminates between degradation signals by amino acid composition, implying the use of sequence-specific signals in mitochondrial proteostasis.
Title: Engineered AAA+ proteases reveal principles of proteolysis at the mitochondrial inner membrane.
These results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans.
Title: Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
YME1L1 was identified as the first NUMT (nuclear mtDNA) suppressor gene in human and demonstrate that inactivation of YME1L1 induces migration of mtDNA to the nuclear genome.
Title: Migration of mitochondrial DNA in the nuclear genome of colorectal adenocarcinoma.
differential stress-induced degradation of YME1L and OMA1 as a mechanism for sensitively adapting mitochondrial inner membrane protease activity and function in response to distinct types of cellular insults.
Title: Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.
YME1L degradation reduces mitochondrial proteolytic capacity during oxidative stress.Loss of YME1L compromises the regulation of mitochondrial inner membrane proteostasis.
Title: YME1L degradation reduces mitochondrial proteolytic capacity during oxidative stress.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Optic atrophy 11 MedGen: C4310628 OMIM: 617302 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93714 (e-PCR)
- UniSTS:87051

SHGC-105218 (e-PCR)
- UniSTS:169240

T03326 (e-PCR)
- UniSTS:39220

G20575 (e-PCR)
- UniSTS:56117

A005X27 (e-PCR)
- UniSTS:56118

STS-N30424 (e-PCR)
- UniSTS:13126

RH25555 (e-PCR)
- UniSTS:90469

RH66293 (e-PCR)
- UniSTS:2669

REN92160 (e-PCR)
- UniSTS:416958

SHGC-32086 (e-PCR)
- UniSTS:82666

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent peptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein hexamerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein quality control for misfolded or incompletely synthesized proteins	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein quality control for misfolded or incompletely synthesized proteins	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ATP-dependent zinc metalloprotease YME1L1

Names: ATP-dependent metalloprotease FtsH1 homolog; YME1-like protein 1; meg-4; presenilin-associated metalloprotease

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047122.1 RefSeqGene

Range

5895..50168

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001253866.2 → NP_001240795.1 ATP-dependent zinc metalloprotease YME1L1 isoform 4

See identical proteins and their annotated locations for NP_001240795.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI042625, AJ132637, AK297973, AL162272

Consensus CDS

CCDS58072.1

UniProtKB/TrEMBL

A8K5H7

Related

ENSP00000481724.1, ENST00000613434.4

Conserved Domains (1) summary

TIGR01241
Location:243 → 676

FtsH_fam; ATP-dependent metalloprotease FtsH
NM_014263.4 → NP_055078.1 ATP-dependent zinc metalloprotease YME1L1 isoform 3

See identical proteins and their annotated locations for NP_055078.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal coding exon compared to transcript variant 1. However, it maintains the same reading frame, and encodes an isoform (3) that is missing a 57 aa segment compared to isoform 1.

Source sequence(s)

AI042625, AJ132637, AL162272

Consensus CDS

CCDS7151.1

UniProtKB/TrEMBL

A8K5H7

Related

ENSP00000365184.3, ENST00000376016.8

Conserved Domains (1) summary

cl27568
Location:276 → 709

TIP49; TIP49 C-terminus
NM_139312.3 → NP_647473.1 ATP-dependent zinc metalloprotease YME1L1 isoform 1

See identical proteins and their annotated locations for NP_647473.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI042625, AJ132637, AL162272, DA395557, DA489399

Consensus CDS

CCDS7152.1

UniProtKB/Swiss-Prot

B4DNM1, D3DRV8, D3DRV9, Q5T8D9, Q96TA2, Q9H1Q0, Q9UMR9

UniProtKB/TrEMBL

Q96I63

Related

ENSP00000318480.3, ENST00000326799.7

Conserved Domains (4) summary

TIGR01241
Location:333 → 766

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam00004
Location:375 → 506

AAA; ATPase family associated with various cellular activities (AAA)

pfam01434
Location:586 → 764

Peptidase_M41; Peptidase family M41

cl21455
Location:331 → 395

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

27110111..27154384 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519300.4 → XP_011517602.1 ATP-dependent zinc metalloprotease YME1L1 isoform X1

UniProtKB/TrEMBL

Q96I63

Conserved Domains (4) summary

TIGR01241
Location:300 → 733

FtsH_fam; ATP-dependent metalloprotease FtsH

pfam00004
Location:342 → 473

AAA; ATPase family associated with various cellular activities (AAA)

pfam01434
Location:553 → 731

Peptidase_M41; Peptidase family M41

cl21455
Location:298 → 362

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

27140165..27184407 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364629.1 → XP_054220604.1 ATP-dependent zinc metalloprotease YME1L1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_139313.1: Suppressed sequence

Description

NM_139313.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.