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

Gene ID: 10730, updated on 24-Nov-2020

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
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

Genomic context

See YME1L1 in Genome Data Viewer
Location:
10p12.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (27110111..27155051, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27399040..27443349, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 238 member C Neighboring gene ankyrin repeat domain 26 Neighboring gene RNA, U6 small nuclear 490, pseudogene Neighboring gene microtubule associated serine/threonine kinase like Neighboring gene RNA, U2 small nuclear 24, pseudogene Neighboring gene acyl-CoA binding domain containing 5 Neighboring gene RNA, U7 small nuclear 12 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent peptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP-dependent peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
mitochondrial protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein hexamerization IDA
Inferred from Direct Assay
more info
PubMed 
protein quality control for misfolded or incompletely synthesized proteins IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein quality control for misfolded or incompletely synthesized proteins IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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

  1. NG_047122.1 RefSeqGene

    Range
    5895..50168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253866.2NP_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/Swiss-Prot
    Q96TA2
    Related
    ENSP00000481724.1, ENST00000613434.4
    Conserved Domains (1) summary
    cl27568
    Location:243676
    TIP49; TIP49 C-terminus
  2. NM_014263.4NP_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/Swiss-Prot
    Q96TA2
    Related
    ENSP00000365184.3, ENST00000376016.7
    Conserved Domains (1) summary
    cl27568
    Location:276709
    TIP49; TIP49 C-terminus
  3. NM_139312.3NP_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
    Q96TA2
    Related
    ENSP00000318480.3, ENST00000326799.7
    Conserved Domains (4) summary
    TIGR01241
    Location:333766
    FtsH_fam; ATP-dependent metalloprotease FtsH
    pfam00004
    Location:375506
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam01434
    Location:586764
    Peptidase_M41; Peptidase family M41
    cl21455
    Location:331395
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    27110111..27155051 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519300.3XP_011517602.1  ATP-dependent zinc metalloprotease YME1L1 isoform X1

    Conserved Domains (4) summary
    TIGR01241
    Location:300733
    FtsH_fam; ATP-dependent metalloprotease FtsH
    pfam00004
    Location:342473
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam01434
    Location:553731
    Peptidase_M41; Peptidase family M41
    cl21455
    Location:298362
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
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