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AIFM3 Gene

protein-coding   GIFtS: 47

GC22P019649
apoptosis-inducing factor, mitochondrion-associated, 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
AIFL 1, 2, 3
EC 1.-.-.- 3
FLJ30473 1, 2
FLJ45137 2
Descriptions
Apoptosis-inducing factor-like protein 3
apoptosis-inducing factor like 2
apoptosis-inducing factor, mitochondrion-associated, 3 2
External Ids
HGNC: 263981
Entrez Gene: 1502092
UniProtKB: Q96NN93
Ensembl: ENSG000001837737
Search outside databases for aliases for AIFM3 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
Function: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane
potential

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

AIFM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P019649:     (about GC identifiers)

Start:
19,649,434 bp from pter
End:
19,665,649 bp from pter
Size:
16,216 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9 (See protein sequence)
Recommended Name: Apoptosis-inducing factor 3  
Size: 605 amino acids; 66791 Da
Subcellular location: Mitochondrion. Note=Does not translocate to the nucleus upon induction of
apoptosis
Secondary accessions: Q6ZT44 Q8N1V3 Q8N5E0
Alternative splicing: 3 isoforms:  Q96NN9-1   Q96NN9-2   Q96NN9-3   

REFSEQ proteins (3 alternative transcripts): 
NP_001018070.1  NP_001139760.1  NP_653305.1  


ENSEMBL proteins: 
ENSP00000385800 ENSP00000382120 ENSP00000382116 ENSP00000335369 ENSP00000327671 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (AIFM3)
Human Recombinant Proteins from Abnova (AIFM3)
              OriGene Purified Recombinant Human Protein: AIFM3 

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634NOT nucleus IDA15764604
GO:0005737 cytoplasm IEA--
GO:0005739 mitochondrion IDA15764604
GO:0005743 mitochondrial inner membrane IDA15764604
GO:0005783 endoplasmic reticulum IDA15764604
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Antibodies for AIFM3: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for AIFM3
Browse R&D Systems for Antibodies
Antibodies from Abcam (AIFM3), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for AIFM3

Assays for AIFM3: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro domains/families:
 IPR013027 FAD_pyr_nucl-diS_OxRdtase
 IPR000103 Pyridine_nuc-diS_OxRdtase_2
 IPR017941 Rieske_2Fe-2S
 IPR004099 Pyr_nucl-diS_OxRdtase_dimer
 IPR001327 Pyr_OxRdtase_NAD_bd


   GeneDecks  AIFM3 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q96NN9

ProtoNet protein and cluster: Q96NN9

3 Blocks protein families:
IPB001327 Pyridine nucleotide-disulphide oxidoreductase
IPB005806 Rieske [2Fe-2S] domain
IPB013027 FAD-dependent pyridine nucleotide reductase signature


UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
Domain: The Rieske domain induces apoptosis
Similarity: Belongs to the FAD-dependent oxidoreductase family
Similarity: Contains 1 Rieske domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AIFM3)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_144704

              Applied Biosystems Silencer® siRNAs for AIFM3

              Sigma-Aldrich siRNA and siRNA Panels for AIFM3  
                     Sigma-Aldrich shRNA Panels and shRNA for AIFM3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for AIFM3
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001018060
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001018060
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001018060 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_144704

UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
Function: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane
potential
Enzyme Number (IUBMB): EC 1.-.-.- 

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005506 iron ion binding IEA--
GO:0008656 caspase activator activity IDA15764604
GO:0009055 electron carrier activity IEA--
GO:0016491 oxidoreductase activity IEA--
GO:0046872 metal ion binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  AIFM3  (Your Favorite Gene powered by Ingenuity) 
 Inositol Metabolism

   GeneDecks  AIFM3 for the pathways selected above  
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  --

5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IEA--
GO:0006915 apoptosis IEA--
GO:0006917 induction of apoptosis IDA15764604
GO:0008635 activation of caspase activity by cytochrome c IDA15764604
GO:0022900 electron transport chain IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AIFM3

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AIFM3)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_144704

              Sigma-Aldrich siRNA and siRNA Panels for AIFM3  
                     Sigma-Aldrich shRNA Panels and shRNA for AIFM3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001018060  NM_144704  

REFSEQ mRNAs for AIFM3 gene (3 alternative transcripts): 

NM_001018060.2   NM_001146288.1   NM_144704.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001018060  NM_144704  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001018060
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001018060
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001018060 

Additional cDNA sequence: 

AK055035.1 AK094844.1 AK126917.1 AK295581.1 AK316042.1 AY927574.1 AY927594.1 BC032485.1 
CR456342.1 CR617219.1 CR626811.1 

15 DOTS entries:

DT.100779185  DT.40213016  DT.100648655  DT.95270268  DT.423376  DT.120667986  DT.100809547  DT.120668195 
DT.95270269  DT.100662270  DT.120668455  DT.120668185  DT.120668326  DT.97816117  DT.99949405 

24/206 AceView cDNA sequences (see all 206 ):

CR626811 NM_006767 AL119038 BC026214 CR600642 AI453247 AI932666 BM773212 
CA489669 CR601558 BE673452 BI759539 BQ019651 CA396648 CB155418 BM562885 
BM722768 BF196818 BM705145 BM772801 BM697448 BQ182728 CR456342 BU192087 

highest scoring ESTs for AIFM3:

AA468769 AA488309 AI343497 AK055035 AK094844 AV723503 BC032485 BI838029 BU101948 BX428309 

Unigene Cluster for AIFM3:

Apoptosis-inducing factor, mitochondrion-associated, 3
Hs.163543  [show with all ESTs]
Unigene Representative Sequence: AK126917


GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for AIFM3 (see all 15 )

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
SP1:                                                              -     -     -     -     -                                                                     
SP2:              -     -     -     -           -                 -     -     -     -     -                                                                     
SP3:                                                                                                                                -                           
SP4:                                            -                 -     -     -     -     -                                                                     
SP5:                                                                                                                                                            

ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23
SP1:                    -                                         -         
SP2:                    -                                         -         
SP3:                    -                                                   
SP4:                                                                        
SP5:                                                                        

About this scheme

ECgene alternative splicing isoforms for AIFM3

5 Ensembl transcripts including schematic representations:
ENST00000405089  ENST00000399167  ENST00000399163  ENST00000335375  ENST00000333607  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

AIFM3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AIFM3

1 / 2 / 3

3 probe-sets matching AIFM3 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
84071_at2, 3 U95-E 1 1.00 1.00 1.00 1.00 AA468769 1.00 0.90 0.95 1

244084_at2, 3 U133-B 1 1.00 1.00 -- -- AA468769 1.00 0.90 0.95 1

244084_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  AIFM3 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTAGACATTA

SOURCE GeneReport for Unigene cluster: Hs.163543

UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
Tissue specificity: Ubiquitous. Expressed in bone marrow, cerebral cortex, liver, ovary, thymus,
thyroid gland and tongue (at protein level)

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for AIFM3 gene from 5/14 species (see all 14 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
AIFM31   -- apoptosis-inducing factor, mitochondrion-associated, more 89.67(n)
95.87(a)
486440  XM_543566.2  XP_543566.2 
cow
(Bos taurus)
AIFM31   -- apoptosis-inducing factor, mitochondrion-associated, more 90.16(n)
95.67(a)
526295  NM_001046281.1  NP_001039746.1 
rat
(Rattus norvegicus)
Aifm31   -- apoptosis-inducing factor, mitochondrion-associated more 88.11(n)
96.15(a)
303786  XM_001058959.1  XP_001058959.1 
mouse
(Mus musculus)
Aifm31, 5 165
apoptosis-inducing factor, mitochondrion-associated more1, 5 87.96(n)1
96.15(a)1
721681  NM_175178.31  NP_780387.21 
 AI8402495  AK0129585  (see all 10)
chicken
(Gallus gallus)
AIFM31   -- apoptosis-inducing factor, mitochondrion-associated, more 75.72(n)
79.67(a)
416999  XM_415290.2  XP_415290.2 
About this table        Species with no ortholog for AIFM3

ENSEMBL Gene Tree for AIFM3
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for AIFM3 gene
AIFM12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/161 NCBI SNPs in AIFM3 are shown (see all 161 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 95)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 22 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs7568751,2
A,C,F,H19648433(+) CTCTGG/AGCCTG 2 -- ng519Minor allele frequency- A:0.41NA EA EU WA 2144
rs57615511,2
A,C,F,H19647661(+) CCACAG/ATGGAC 2 -- ng51 tfbs33Minor allele frequency- A:0.47EU EA 300
rs81370601,2
A,C,F,H19647877(+) CCTGCG/AGTGTC 2 -- ng514Minor allele frequency- A:0.03EU EA WA 418
rs22399591,2
C,F,H19649041(+) CCAGTG/AAAGGG 2 -- ng515Minor allele frequency- A:0.20EA EU WA 1912
rs18589311,2
A,C,F19648552(+) GTGGTG/TGTGGT 2 -- ng511Minor allele frequency- T:0.46EA 1492
rs22399581,2
F19648602(+) ATAGTC/TCCAGA 2 -- ng511Minor allele frequency- T:0.05EA 738
rs1782691,2
C,F,H19661043(+) GGTCGT/AGCCCT 2 R/R syn15Minor allele frequency- A:0.00EU EA WA 580
rs1782661,2
C19659003(+) GCTGGC/TCTGGT 2 G/G syn11Minor allele frequency- T:0.00EA 180
rs1782721,2
A,C,F,H,O19661629(+) GCCCTG/ACGAGA 2 -- int17Minor allele frequency- A:0.49MN EU EA WA NA 782
rs81375141,2
A,C,F,H19663857(+) ATCCTG/ATGACG 2 -- int14Minor allele frequency- A:0.05EU EA WA 420
About this table

HapMap Linkage Disequilibrium images for AIFM3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

9 PubMed articles for AIFM3 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 150209 HGNC: 26398 AceView: LZTR1andFLJ30473 Ensembl:ENSG00000183773 euGenes: HUgn150209
ECgene: AIFM3 H-InvDB: AIFM3
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for AIFM3:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for AIFM3 Antibodies for AIFM3
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 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for AIFM3




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