YME1L1 - YME1 like 1 ATPase Gene

Homo sapiens

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

Gene ID: 10730 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15929	YME1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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