YME1L1 - YME1 like 1 ATPase Gene

Also Known as FTSH; MEG4; PAMP; OPA11; YME1L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10730

About YME1L1

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,110,111-27,154,384 (from NCBI)

This gene has 8 transcripts (splice variants), 282 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 32.8), testis (RPKM 26.7) and 25 other tissues.

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]

YME1L1 Products (3)

mRNA	Protein	Name
NM_001253866.2	NP_001240795.1	ATP-dependent zinc metalloprotease YME1L1 isoform 4
NM_014263.4	NP_055078.1	ATP-dependent zinc metalloprotease YME1L1 isoform 3
NM_139312.3	NP_647473.1	ATP-dependent zinc metalloprotease YME1L1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP-dependent peptidase activity	IDA IDA: Inferred from direct assay	24315374	GOA
enables ATP-dependent peptidase activity	IMP IMP: Inferred from mutant phenotype	27495975	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26759378	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	22262461	GOA
involved in cellular response to starvation	IDA IDA: Inferred from direct assay	31695197	GOA
involved in mitochondrial protein catabolic process	IMP IMP: Inferred from mutant phenotype	27495975	GOA
involved in mitochondrial protein processing	IMP IMP: Inferred from mutant phenotype	27495975	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	22262461	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	22262461	GOA
involved in positive regulation of mitochondrial fusion	IDA IDA: Inferred from direct assay	33237841	GOA
involved in protein hexamerization	IDA IDA: Inferred from direct assay	27786171	GOA
involved in protein quality control for misfolded or incompletely synthesized proteins	IMP IMP: Inferred from mutant phenotype	22262461	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	22262461	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	27495975	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

YME1L1 Protein Structure

AAA

Peptidase_M41

0
200
400
600
773 a.a.

Protein Preferred Names	Protein Names
ATP-dependent zinc metalloprotease YME1L1	ATP-dependent metalloprotease FtsH1 homolog

Related Diseases

Diseases	Alias
Optic Atrophy 11	OPA11 Atrophy, Optic, Type 11
Autosomal Recessive Isolated Optic Atrophy	Autosomal Recessive Non-Syndromic Optic Atrophy
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28
Spastic Paraplegia 7, Autosomal Recessive	SPG7 Hereditary Spastic Paraplegia 7 Spastic Paraplegia Type 7 Spastic Paraplegia 7 Hereditary Spastic Paraplegia, Paraplegin Type Autosomal Recessive Spastic Paraplegia 7 Hereditary Spastic Paraplegia Paraplegin Type Spastic Paraplegia-7 Paraplegia, Spastic, Autosomal Recessive, Type 7 Spastic Paraplegia, Hereditary Autosomal Recessive Hereditary Spastic Paraplegia
Spastic Ataxia 5
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Exudative Vitreoretinopathy 2, X-Linked	EVR2 Evrx Fevrx X-Linked Exudative Vitreoretinopathy 2 Exudative Vitreoretinopathy, Familial, 2 Fevr, X-Linked Vitreoretinopathy, Exudative 2 Exudative Vitreoretinopathy Familial 2 Fevr X-Linked X-Linked Familial Exudative Vitreoretinopathy Vitreoretinopathy, Exudative, X-Linked, Type 2 Exudative Vitreoretinopathy, Familial, X-Linked Recessive
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Carrion'S Disease	Oroya Fever Carrion Disease Bartonellosis Due To Bartonella Bacilliformis Infection Bartonella Infections Systemic Bartonellosis Due To Bartonella Bacilliformis Systemic Carrión Disease Systemic Bartonellosis Bartonella Fever
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Spastic Ataxia	Spax Ataxia, Spastic
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-142035	N-Propargylglycine		99.70%	Unkown
HY-RS15929	YME1L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21219	Yme1l1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27735	Yme1l1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	YME1L1	VGNC	VGNC:37032
Macaca mulatta	YME1L1	VGNC	VGNC:78818
Canis familiaris	YME1L1	VGNC	VGNC:48495
Rattus norvegicus	YME1L1	RGD	RGD:620764
Mus musculus	YME1L1	MGD	MGI:1351651
Felis catus	YME1L1	VGNC	VGNC:67147