1. Gene
  2. MFF - mitochondrial fission factor Gene

MFF - mitochondrial fission factor Gene

中文名称:线粒体分裂因子

种属: Homo sapiens

同用名: EMPF2; GL004; C2orf33

基因 ID: 56947 | 基因类型: protein coding

关于 MFF

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:227,325,251-227,357,836 (from NCBI)

This gene has 27 transcripts (splice variants), 297 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 68.3), brain (RPKM 24.9) and 25 other tissues.

功能概要

这是一个核基因,编码一种在线粒体和过氧化物酶体裂变中起作用的蛋白质。编码的蛋白质将 dynamin-1 样蛋白质 (DNM1L) 募集到线粒体。该基因在 1 号、5 号和 X 号染色体上有多个假基因。可变剪接导致多个转录本变异。[RefSeq 提供,2013 年 3 月]

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

MFF 基因产物(9)

mRNA Protein Name
NM_001277061.2 NP_001263990.1 mitochondrial fission factor isoform a
NM_001277062.2 NP_001263991.1 mitochondrial fission factor isoform b
NM_001277063.2 NP_001263992.1 mitochondrial fission factor isoform c
NM_001277064.2 NP_001263993.1 mitochondrial fission factor isoform d
NM_001277065.2 NP_001263994.1 mitochondrial fission factor isoform e
NM_001277066.2 NP_001263995.1 mitochondrial fission factor isoform e
NM_001277067.1 NP_001263996.1 mitochondrial fission factor isoform f
NM_001277068.1 NP_001263997.1 mitochondrial fission factor isoform g
NM_020194.5 NP_064579.3 mitochondrial fission factor isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
18353969 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21149567 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
23530241 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial fission IDA
IDA: 通过直接分析推断
23283981 GOA
involved in mitochondrial fission IMP
IMP: 通过突变表型推断
18353969 GOA
acts upstream of or within mitochondrion organization IMP
IMP: 通过突变表型推断
21149567 GOA
involved in peroxisome fission IMP
IMP: 通过突变表型推断
18353969 GOA
involved in protein targeting to mitochondrion IDA
IDA: 通过直接分析推断
23283981 GOA
involved in protein targeting to mitochondrion IMP
IMP: 通过突变表型推断
21149567 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
18353969 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
21149567 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
18353969 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
18353969 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MFF 蛋白结构

Miff

Miff: Mitochondrial and peroxisomal fission factor Mff (27 - 342)

  • 0
  • 100
  • 200
  • 300
  • 342 a.a.
蛋白主名 其他名称

mitochondrial fission factor

MFF 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MFF Q9GZY8 DNM1L Homo sapiens O00429 26358295
种属间: 跨种属相互作用 种属内: 同种属相互作用

MFF 抗体

目录号 产品名 应用 反应物种
HY-P82267 MFF Antibody (YA2012) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2

EMPF2

Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect

Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome

Leigh-Like Encephalopathy-Optic Atrophy-Peripheral Neuropathy Syndrome

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Glans Penis Cancer

Malignant Neoplasm Of Glans Penis

Malignant Tumor Of Glans Penis

Malignant Tumour Of Glans Penis

Muscular Dystrophy, Congenital, Megaconial Type

Megaconial Type Congenital Muscular Dystrophy

Congenital Megaconial Myopathy

Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect

Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities

Megaconial Congenital Muscular Dystrophy

MDCMC

Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities

Megaconial Congénital Muscular Dystrophy

Dystrophy, Muscular, Congenital, Megaconial Type

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

Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

EMPF1

Empf

Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Cranial Nerve Disease

Cranial Nerve Disorder

Disorder Of Cranial Nerve

Cranial Nerve Diseases

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

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Felis catus MFF VGNC VGNC:63470
Rattus norvegicus MFF RGD RGD:1310230
Macaca mulatta MFF VGNC VGNC:99382
Mus musculus MFF MGD MGI:1922984