2. Gene
  3. AIFM1 - apoptosis inducing factor mitochondria associated 1 Gene

AIFM1 - apoptosis inducing factor mitochondria associated 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞凋亡诱导因子线粒体相关 1

种属: Homo sapiens

同用名: AIF; AUNX1; CMT2D; CMTX4; COWCK; DFNX5; NADMR; NAMSD; PDCD8; COXPD6; SEMDHL

基因 ID: 9131 | 基因类型: protein coding

关于 AIFM1

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:130,129,362-130,165,841 (from NCBI)

This gene has 31 transcripts (splice variants), 204 orthologues, 7 paralogues and is associated with 9 phenotypes. Broad expression in kidney (RPKM 48.3), heart (RPKM 22.2) and 24 other tissues.

功能概要

该基因编码的黄素蛋白对于凋亡细胞的核解体至关重要，它存在于健康细胞的线粒体膜间隙中。细胞凋亡的诱导导致该蛋白质易位至细胞核，在细胞核中影响染色体浓缩和断裂。此外，该基因产物诱导线粒体释放凋亡蛋白细胞色素 c 和 caspase-9。该基因的突变导致联合氧化磷酸化缺陷 6 (COXPD6) ，一种严重的线粒体脑肌病，以及 Cowchock 综合征，也称为 X 连锁隐性 Charcot-Marie-Tooth 病 4 (CMTX-4) ，一种导致神经病变、轴突和运动感觉缺陷伴有耳聋和认知障碍。可变剪接导致多个转录本变体。已在 10 号染色体上鉴定出一个相关的假基因。[RefSeq 提供，2015 年 8 月]

This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of Apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined Oxidative Phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

AIFM1 基因产物(4)

mRNA Protein Name
NM_001130846.4 NP_001124318.2 apoptosis-inducing factor 1, mitochondrial isoform AIFsh
NM_001130847.4 NP_001124319.1 apoptosis-inducing factor 1, mitochondrial isoform AIFsh2 precursor
NM_004208.4 NP_004199.1 apoptosis-inducing factor 1, mitochondrial isoform AIF precursor
NM_145812.3 NP_665811.1 apoptosis-inducing factor 1, mitochondrial isoform AIF-exB precursor
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 DNA binding IDA
IDA: 通过直接分析推断
27178839 GOA
enables FAD binding IDA
IDA: 通过直接分析推断
27178839 GOA
enables NAD(P)H oxidase H2O2-forming activity IDA
IDA: 通过直接分析推断
27178839 GOA
enables oxidoreductase activity, acting on NAD(P)H IDA
IDA: 通过直接分析推断
23217327 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16713569 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
17094969 GOA
involved in apoptotic process IMP
IMP: 通过突变表型推断
23217327 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
20111043 GOA
involved in mitochondrial respiratory chain complex assembly IMP
IMP: 通过突变表型推断
26004228 GOA
involved in neuron differentiation IDA
IDA: 通过直接分析推断
20111043 GOA
involved in protein import into mitochondrial intermembrane space IMP
IMP: 通过突变表型推断
26004228 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
15775970 GOA
located in mitochondrial intermembrane space IMP
IMP: 通过突变表型推断
20111043 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23217327 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

AIFM1 蛋白结构

AIF-MLS

AIF-MLS: Mitochondria Localisation Sequence (11 - 112)

Pyr_redox_2

Pyr_redox_2: Pyridine nucleotide-disulphide oxidoreductase (136 - 443)

Pyr_redox

Pyr_redox: Pyridine nucleotide-disulphide oxidoreductase (302 - 385)

AIF_C

AIF_C: Apoptosis-inducing factor, mitochondrion-associated, C-term (465 - 594)

  • 0
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  • 613 a.a.
蛋白主名 其他名称

apoptosis-inducing factor 1, mitochondrial

apoptosis-inducing factor, mitochondrion-associated, 1

重组 AIFM1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7856 PDCD8/AIFM1 Protein, Human (His) O95831 (E121-D613) ≥95%

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 6

Severe X-Linked Mitochondrial Encephalomyopathy

COXPD6

Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6

Mitochondrial Encephalomyopathy Due To Coxpd6

Encephalomyopathy, Mitochondrial, X-Linked

Encephalomyopathy Mitochondrial X-Linked

Oxidative Phosphorylation Deficiency, Combined, Type 6
Deafness, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5

DFNX5

Aunx1

Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy

X-Linked Deafness 5

X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1

X-Linked Hsan With Deafness

X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy

X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness

X-Linked Hsan With Hearing Loss

X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss

Deafness, X-Linked, 5, With Peripheral Neuropathy

Deafness, X-Linked, Type 5
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy

SEMDHL

Leukoencephalopathy With Metaphyseal Chondrodysplasia

H-Smd

Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome

Lkmcd

Semd, X-Linked, With Mental Deterioration

Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Hypomyelination-Spondylometaphyseal Dysplasia Syndrome

X-Linked Spondyloepimetaphyseal Dysplasia With Hypomyelinating Leukodystrophy

Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome

Hypomyelination-Spondyloepimetaphyseal Dysplasia Syndrome

Leukoencephalopathy-Semd Syndrome

Semd X-Linked With Mental Deterioration
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia

Cowchock Syndrome

CMTX4

Cowck

Neuropathy, Axonal Motor-Sensory, With Deafness And Mental Retardation

Namsd

Nadmr

Charcot-Marie-Tooth Disease With Deafness And Mental Retardation

Charcot-Marie-Tooth Disease Deafness Mental Retardation

Charcot-Marie-Tooth Disease X-Linked Recessive 4
Charcot-Marie-Tooth Disease X-Linked Recessive 4

Cmt4x

Cmtx4

Cowchock Syndrome

X-Linked Charcot-Marie-Tooth Disease Type 4

Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation

Charcot-Marie-Tooth Disease With Deafness And Mental Retardation

Nadmr

Namsd
Combined Oxidative Phosphorylation Deficiency
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies
Leukodystrophy

Leukodystrophies
Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial
Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal
Ear Malformation

Cup Ear
Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders
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
Spondyloepimetaphyseal Dysplasia, X-Linked

X-Linked Spondyloepimetaphyseal Dysplasia

SEMDX

Semd, X-Linked

Semd X-Linked

Spondyloepimetaphyseal Dysplasia X-Linked

Spondylo-Epimetaphyseal Dysplasia
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Charcot-Marie-Tooth Disease Type X
Deafness, X-Linked 4

DFNX4

Dfn6

Deafness, Nonsyndromic Sensorineural Progressive 6

X-Linked Deafness 4

Deafness, X-Linked 6, Progressive

Nonsyndromic Sensorineural Progressive Deafness 6

X-Linked Progressive Deafness 6

Deafness, X-Linked, 4

Deafness Nonsyndromic Sensorineural Progressive 6

Deafness X-Linked 6 Progressive

Deafness, X-Linked, Type 4
Axonal Neuropathy
X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked
Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation
Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome

DFNX7

X-Linked Deafness 7

Deafness, X-Linked, 7
Brown-Vialetto-Van Laere Syndrome
Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder
Codas Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome

Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

Cerebrooculodentoauriculoskeletal Syndrome

CODASS

Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
Retinal Degeneration

Degeneration Of Retina
Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00492 AIFM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus AIFM1 VGNC VGNC:68747
Canis familiaris AIFM1 VGNC VGNC:37737
Rattus norvegicus AIFM1 RGD RGD:620817
Macaca mulatta AIFM1 VGNC VGNC:69820
Bos taurus AIFM1 VGNC VGNC:25761
Mus musculus AIFM1 MGD MGI:1349419
Others AIFM1 NCBI
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