AIFM1 Gene
protein-coding GIFtS: 64
GCID: GC0XM129263
|
|
apoptosis-inducing factor, mitochondrion-associated, 1(Previous name: programmed cell death 8 (apoptosis-inducing factor) ) (Previous symbol: PDCD8)
| |
Aliases for AIFM1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Apoptosis-Inducing Factor, Mitochondrion-Associated, 11 2 | | COWCK2 | | AIF1 2 3 5 | | Apoptosis-Inducing Factor 1, Mitochondrial2 | | PDCD81 2 3 5 | | Striatal Apoptosis-Inducing Factor2 | | Programmed Cell Death 8 (Apoptosis-Inducing Factor)1 2 | | EC 1.-.-.-3 | | COXPD62 5 | | Programmed Cell Death Protein 83 | | CMTX42 | | |
Export aliases for AIFM1 gene to outside databasesPrevious GC identifers: GC0XM129092 GC0XM118659 |
Summaries for AIFM1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for AIFM1: This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in themitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of thisprotein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene productinduces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene causecombined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy.Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome10. (provided by RefSeq, May 2010) UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831Function: Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it istranslocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independentpathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. Thesoluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomalDNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 toamplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposedcells. Binds to DNA in a sequence-independent manner Gene Wiki entry for AIFM1
|
Genomic Views for AIFM1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011786.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the AIFM1 gene promoter: ATF-2 c-Jun Other transcription factors
Search SABiosciences Chromatin IP Primers for AIFM1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AIFM1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq26.1 Ensembl cytogenetic band: Xq26.1 HGNC cytogenetic band: Xq26.1AIFM1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM129263: view genomic region
(about GC identifiers)
Start:
|
129,263,337 bp from pter |
End:
|
129,299,861 bp from pter |
Size:
|
36,525 bases |
Orientation:
|
minus strand |
|
Proteins for AIFM1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831 (See
protein sequence)Recommended Name: Apoptosis-inducing factor 1, mitochondrial precursor Size: 613 amino acids; 66901 Da
Cofactor: FAD
Subunit: Interacts with XIAP/BIRC4. Interacts (via N-terminus) with EIF3G (via C-terminus)
Subcellular location: Mitochondrion intermembrane space. Mitochondrion inner membrane. Cytoplasm. Nucleus. Cytoplasm,perinuclear region. Note=Proteolytic cleavage during or just after translocation into the mitochondrial intermembranespace (IMS) results in the formation of an inner-membrane-anchored mature form (AIFmit). During apoptosis, furtherproteolytic processing leads to a mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol).AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where itinduces nuclear apoptosis. Colocalizes with EIF3G in the nucleus and perinuclear region
2 PDB 3D structures from and Proteopedia for AIFM1:1M6I (3D)
  4FDC (3D)
 
Secondary accessions: A4QPB4 B1ALN1 B2RB08 D3DTE9 Q1L6K6 Q2QKE4 Q5JUZ7 Q6I9X6 Q9Y3I3 Q9Y3I4Alternative splicing: 5 isoforms: O95831-1 O95831-2 O95831-3 O95831-4 O95831-5 (Localizes in the cytoplasm)Explore the universe of human proteins at neXtProt for AIFM1: NX_O95831
Post-translational modifications:
Under normal conditions, a 54-residue N-terminal segment is first proteolytically removed during or just aftertranslocation into the mitochondrial intermembrane space (IMS) by the mitochondrial processing peptidase (MPP) to formthe inner-membrane-anchored mature form (AIFmit). During apoptosis, it is further proteolytically processed atamino-acid position 101 leading to the generation of the mature form, which is confined to the mitochondrial IMS in asoluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated tothe nucleus, where it induces nuclear apoptosis in a caspase-independent manner1
Ubiquitination by XIAP/BIRC4 does not lead to proteasomal degradation. Ubiquitination at Lys-255 by XIAP/BIRC4 blocksits ability to bind DNA and induce chromatin degradation, thereby inhibiting its ability to induce cell death1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O95831 AIFM1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001124318.1 NP_001124319.1 NP_004199.1 NP_665811.1 NP_665812.1 ENSEMBL proteins: ENSP00000431222 ENSP00000402535 ENSP00000435955 ENSP00000316320 ENSP00000315122 ENSP00000287295 ENSP00000432998 ENSP00000405879 ENSP00000446113 Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
AIFM1 for ontologies About GeneDecksing
AIFM1 Antibody Products: Assay Products for AIFM1: |
Protein
Domains / Families for AIFM1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AIFM1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O95831ProtoNet protein and cluster: O95831 2 Blocks protein families: IPB001327 Pyridine nucleotide-disulphide oxidoreductase IPB013027 FAD-dependent pyridine nucleotide reductase signature
UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831Similarity: Belongs to the FAD-dependent oxidoreductase family |
Function for AIFM1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831Function: Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it istranslocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independentpathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. Thesoluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomalDNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 toamplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposedcells. Binds to DNA in a sequence-independent mannerEnzyme Number (IUBMB): EC 1.-.-.-1
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AIFM1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AIFM1 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): AIFM1 (NM_004208) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AIFM1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AIFM1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIFM1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
AIFM1 for ontologies About GeneDecksing
Animal Models: Mouse knock-out Aifm1tm2.1Pngr for AIFM1 11 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Aifm1):
AIFM1 for phenotypes About GeneDecksing
|
Pathways & Interactions for AIFM1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members | | | 2 | Apoptosis and Autophagy | | | 3 | Ceramide signaling pathway | | | 4 | 14-3-3 Induced Apoptosis | | | 5 | Apoptosis and survival_Apoptotic TNF-family pathways | |
Pathway sources See GeneCards unified pathways Show all pathways
1 EMD Millipore Pathway for AIFM1 1 R&D Systems Pathway for AIFM1
1
Cell Signaling Technology (CST) Pathway for AIFM1 1 GeneGo (Thomson Reuters) Pathway for AIFM1 2 BioSystems Pathways for AIFM1 
1
Kegg Pathway (Kegg details for AIFM1):
AIFM1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AIFM1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/357 Interacting proteins for AIFM1 (O958311, 2, 3 ENSP000002872954) via UniProtKB, MINT, STRING, and/or I2D (see all 357)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006309 | apoptotic DNA fragmentation |
IEA | -- | | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process |
IDA | 17094969 | | GO:0030182 | neuron differentiation |
IDA | -- | | GO:0032981 | mitochondrial respiratory chain complex I assembly |
IMP | -- | | GO:0045454 | cell redox homeostasis |
IEA | -- |
AIFM1 for ontologies About GeneDecksing
|
Drugs & Compounds for AIFM1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
AIFM1 for compounds About GeneDecksing
Browse Tocris compounds for AIFM1
1 HMDB Compound for AIFM1 About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| FAD | 1H-Purin-6-amine flavin dinucleotide (see all 21) | 146-14-5 | -- |
1 DrugBank Compound for AIFM1 About this table
10/59 Novoseek chemical compound relationships for AIFM1 gene (see all 59) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| z-vad-fmk |
78 |
2 |
15094383 (1) |
| adpribose |
73.5 |
17 |
15486061 (1), 18276737 (1), 15659217 (1), 16267832 (1) (see all 13) |
| ptpc |
73 |
2 |
19693275 (2) |
| phosphatidylserine |
65.8 |
7 |
17213804 (1), 15738311 (1), 16544097 (1), 18053973 (1) (see all 7) |
| n acetylcysteine |
58.6 |
12 |
15486061 (1), 17846503 (1), 15964899 (1), 19874809 (1) (see all 7) |
| oxygen |
52.4 |
30 |
19110029 (2), 12629154 (2), 15486061 (1), 18241839 (1) (see all 24) |
| ceramide |
46 |
10 |
15905098 (2), 17471535 (1), 9206994 (1), 10744629 (1) (see all 7) |
| roscovitine |
43.2 |
2 |
15591654 (1) |
| 10-hydroxycamptothecin |
42.6 |
12 |
16926123 (3), 16635299 (3) |
| curcumin |
40.6 |
13 |
19693275 (3), 15205359 (2), 20358476 (2), 15661804 (1) (see all 7) |
Search CenterWatch for drugs/clinical trials and news about AIFM1 
|
Transcripts for AIFM1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for AIFM1 gene (5 alternative transcripts): NM_001130846.2 NM_001130847.3 NM_004208.3 NM_145812.2 NM_145813.2 Unigene Cluster for AIFM1: Apoptosis-inducing factor, mitochondrion-associated, 1 Hs.424932 [show with all ESTs]Unigene Representative Sequence: NM_00113084710 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000460436 ENST00000416073 ENST00000527892 ENST00000346424 ENST00000319908(uc004evh.3) ENST00000287295(uc011mus.2 uc004evg.3 uc004evi.3 uc004evk.3) ENST00000533719 ENST00000529877 ENST00000440263(uc011mur.2) ENST00000535724
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AIFM1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AIFM1 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): AIFM1 (NM_004208) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AIFM1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AIFM1  |
Additional cDNA sequence: AF100928.1 AF131759.1 AK000775.1 AK314446.1 AL049703.1 AL049704.1 AY795556.1 AY795557.1 BC111065.1 BC139738.1 CR457379.1 DQ016496.2 DQ016498.1 13 DOTS entries: DT.416157 DT.40282410 DT.95316624 DT.95319362 DT.100893284 DT.100757204 DT.92471187 DT.95316622 DT.100893286 DT.121278913 DT.75149829 DT.91974881 DT.97867069 24/345 AceView cDNA sequences (see all 345): AA384219 AI753373 AI360370 BE887067 BQ772364 BQ581783 AL557331 BQ268360 AI352315 BU517321 BQ009846 BI835393 AL571252 BX114670 BQ001037 BM835413 AA846145 AK000775 BM708034 BM807180 AI950034 AI872396 AA913640 BQ012199 GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for AIFM1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for AIFM1
|
Expression for AIFM1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AIFM1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAGACTGAAG
About this image See AIFM1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for AIFM1
SOURCE GeneReport for Unigene cluster: Hs.424932 UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831Tissue specificity: Isoform 5 is frequently down-regulated in human cancers SABiosciences Expression via Pathway-Focused PCR Arrays including AIFM1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AIFM1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AIFM1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AIFM1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AIFM1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIFM1 |
Orthologs for AIFM1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for AIFM1 gene from 10/32 species (see all 32) About this table
ENSEMBL Gene Tree for AIFM1 (if available) TreeFam Gene Tree for AIFM1 (if available)  |
Paralogs for AIFM1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for AIFM1 gene
- AIFM32
1 SIMAP similar gene for AIFM1 using alignment to 5 protein entries: AIFM1_HUMAN (see all proteins):PDCD8
AIFM1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for AIFM1 PGOHUM00000238680
|
Genomic Variants for AIFM1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for AIFM1 (129263337 - 129299861 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for AIFM1: -- Human Gene Mutation Database (HGMD): AIFM1
Locus Specific Mutation Databases (LSDB): AIFM1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AIFM1 |
|
Disorders
/ Diseases for AIFM1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AIFM1 for disorders About GeneDecksing
OMIM gene information: 300169 OMIM disorders: 300816 UniProtKB/Swiss-Prot: AIFM1_HUMAN, O95831
Defects in AIFM1 are the cause of combined oxidative phosphorylation deficiency type 6 (COXPD6) [MIM:300816].It is a mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia,areflexia, muscle weakness and wasting 20/70 diseases for AIFM1 (see all 70): About MalaCardscombined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 6 mitochondrial encephalomyopathy encephalomyopathy diffuse large b-cell lymphoma leber hereditary optic neuropathy non-small cell lung carcinoma b-cell lymphomas cerebral artery occlusion cerebrovascular accident monocytic leukemia retinal degeneration hearing loss rhabdoid tumors chronic lymphocytic leukemia acute myeloid leukemia lymphocytic leukemia burkitt's lymphoma myeloid leukemia rabies
1 disease from the University of Copenhagen DISEASES database for AIFM1:Cancer 10/42 Novoseek disease relationships for AIFM1 gene (see all 42) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cancer |
47.4 |
28 |
17207087 (6), 15486061 (2), 19578750 (2), 18085520 (2) (see all 13) |
| glioblastoma |
42.3 |
1 |
16158421 (1) |
| colon cancer |
40.2 |
5 |
17711848 (1), 19105980 (1), 16001080 (1), 15946692 (1) |
| cell damage |
39.5 |
3 |
12930708 (1), 14684364 (1), 12535654 (1) |
| tumors |
36.8 |
21 |
19105980 (2), 16001080 (2), 19823038 (1), 20371444 (1) (see all 7) |
| necrosis |
35.1 |
11 |
20360685 (3), 17470554 (2), 16424911 (1), 16219674 (1) (see all 6) |
| leukemia |
34.6 |
4 |
17207087 (1), 16109713 (1), 19887369 (1) |
| shock |
30.5 |
9 |
19118093 (1), 19766117 (1), 19685011 (1), 10744629 (1) (see all 8) |
| glioma |
29.3 |
9 |
15662973 (3), 12734434 (2), 18525314 (2), 16622074 (1) (see all 5) |
| neurodegeneration |
25.2 |
2 |
17150307 (1), 16621561 (1) |
Human Genome Epidemiology (HuGE) Navigator: AIFM1 (4 documents) Export disorders for AIFM1 gene to outside databases
|
Publications for AIFM1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for AIFM1 gene, integrated from 9 sources (see all 481): (articles sorted by number of sources associating them with AIFM1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Molecular characterization of mitochondrial apoptosis-inducing factor. (PubMed id 9989411)1, 2, 3, 9 Susin S.A.... Kroemer G. (1999)
- Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity. (PubMed id 16644725)1, 2, 9 Delettre C....Susin S.A. (2006)
- AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer. (PubMed id 16365034)1, 2, 9 Delettre C.... Susin S.A. (2006)
- Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP. (PubMed id 17967870)1, 2, 9 Wilkinson J.C.... Duckett C.S. (2008)
- DNA binding is required for the apoptogenic action of apoptosis inducing factor. (PubMed id 12198487)1, 2, 9 Ye H.... Wu H. (2002)
- Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis. (PubMed id 10913597)1, 2, 9 Daugas E....Kroemer G. (2000)
- Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space. (PubMed id 15775970)1, 2, 9 Otera H....Mihara K. (2005)
- Severe X-linked mitochondrial encephalomyopathy assoc iated with a mutation in apoptosis-inducing factor. (PubMed id 20362274)1, 2, 9 Ghezzi D....Zeviani M. (2010)
- Nondegradative ubiquitination of apoptosis inducing f actor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-me diated chromatin degradation. (PubMed id 22103349)1, 2 Lewis E.M....Wilkinson J.C. (2011)
- Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. (PubMed id 22019070)1, 2 Berger I.... Elpeleg O. (2011)
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External Searches for AIFM1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing AIFM1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing AIFM1 gene
(According to HUGE)
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Specialized Databases showing AIFM1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Patent Information for AIFM1 gene: Search GeneIP for patents involving AIFM1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for AIFM1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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