Details for: AIFM1

Gene ID: 9131

Symbol: AIFM1

Ensembl ID: ENSG00000156709

Description: apoptosis inducing factor mitochondria associated 1

Associated with

Other Information

Genular Protein ID: 2036113459

Symbol: AIFM1_HUMAN

Name: Programmed cell death protein 8

UniProtKB Accession Codes:

O95831 A4QPB4 B1ALN1 B2RB08 D3DTE9 E9PRR0 Q1L6K4 Q1L6K6 Q2QKE4 Q5JUZ7 Q6I9X6 Q9Y3I3 Q9Y3I4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CarbonylDB 1 ChEBI 29 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 17 EPD 1 Ensembl 8 EvolutionaryTrace 1 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 12 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 RefSeq 4 Rhea 2 SABIO-RK 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 2 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9989411

Title: Molecular characterization of mitochondrial apoptosis-inducing factor.

PubMed ID: 9989411

DOI: 10.1038/17135

PubMed ID: 16365034

Title: AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer.

PubMed ID: 16365034

DOI: 10.1074/jbc.m509884200

PubMed ID: 16644725

Title: Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity.

PubMed ID: 16644725

DOI: 10.1074/jbc.m601751200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15775970

Title: Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space.

PubMed ID: 15775970

DOI: 10.1038/sj.emboj.7600614

PubMed ID: 10913597

Title: Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis.

PubMed ID: 10913597

DOI: 10.1016/s0014-5793(00)01731-2

PubMed ID: 17094969

Title: Apoptosis-inducing factor (AIF) inhibits protein synthesis by interacting with the eukaryotic translation initiation factor 3 subunit p44 (eIF3g).

PubMed ID: 17094969

DOI: 10.1016/j.febslet.2006.10.049

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 17967870

Title: Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP.

PubMed ID: 17967870

DOI: 10.1128/mcb.01065-07

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19418225

Title: Apoptosis-inducing factor plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells.

PubMed ID: 19418225

DOI: 10.1007/s10495-009-0353-7

PubMed ID: 20111043

Title: A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2.

PubMed ID: 20111043

DOI: 10.1038/cdd.2009.211

PubMed ID: 21364629

Title: Vital function of PRELI and essential requirement of its LEA motif.

PubMed ID: 21364629

DOI: 10.1038/cddis.2009.19

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22103349

Title: Nondegradative ubiquitination of apoptosis inducing factor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-mediated chromatin degradation.

PubMed ID: 22103349

DOI: 10.1021/bi201483g

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26004228

Title: Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.

PubMed ID: 26004228

DOI: 10.1016/j.molcel.2015.04.020

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33168626

Title: The 89-kDa PARP1 cleavage fragment serves as a cytoplasmic PAR carrier to induce AIF-mediated apoptosis.

PubMed ID: 33168626

DOI: 10.1074/jbc.ra120.014479

PubMed ID: 12198487

Title: DNA binding is required for the apoptogenic action of apoptosis inducing factor.

PubMed ID: 12198487

DOI: 10.1038/nsb836

PubMed ID: 24914854

Title: Structural insights into the coenzyme mediated monomer-dimer transition of the pro-apoptotic apoptosis inducing factor.

PubMed ID: 24914854

DOI: 10.1021/bi500343r

PubMed ID: 27178839

Title: Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.

PubMed ID: 27178839

DOI: 10.1016/j.jmb.2016.05.004

PubMed ID: 23217327

Title: Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

PubMed ID: 23217327

DOI: 10.1016/j.ajhg.2012.10.008

PubMed ID: 27818101

Title: Defining NADH-Driven Allostery Regulating Apoptosis-Inducing Factor.

PubMed ID: 27818101

DOI: 10.1016/j.str.2016.09.012

PubMed ID: 20362274

Title: Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

PubMed ID: 20362274

DOI: 10.1016/j.ajhg.2010.03.002

PubMed ID: 22019070

Title: Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

PubMed ID: 22019070

DOI: 10.1016/j.ymgme.2011.09.020

PubMed ID: 25986071

Title: Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.

PubMed ID: 25986071

DOI: 10.1136/jmedgenet-2014-102961

PubMed ID: 25583628

Title: From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1.

PubMed ID: 25583628

DOI: 10.1016/j.mito.2015.01.001

PubMed ID: 25934856

Title: A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.

PubMed ID: 25934856

DOI: 10.1212/wnl.0000000000001613

PubMed ID: 26173962

Title: A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

PubMed ID: 26173962

DOI: 10.1038/ejhg.2015.141

PubMed ID: 28842795

Title: X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

PubMed ID: 28842795

DOI: 10.1007/s10048-017-0520-x

Sequence Information:

  • Length: 613
  • Mass: 66901
  • Checksum: A156762BC64E6340
  • Sequence:
    • MFRCGGLAAG ALKQKLVPLV RTVCVRSPRQ RNRLPGNLFQ RWHVPLELQM TRQMASSGAS 
GGKIDNSVLV LIVGLSTVGA GAYAYKTMKE DEKRYNERIS GLGLTPEQKQ KKAALSASEG 
EEVPQDKAPS HVPFLLIGGG TAAFAAARSI RARDPGARVL IVSEDPELPY MRPPLSKELW 
FSDDPNVTKT LRFKQWNGKE RSIYFQPPSF YVSAQDLPHI ENGGVAVLTG KKVVQLDVRD 
NMVKLNDGSQ ITYEKCLIAT GGTPRSLSAI DRAGAEVKSR TTLFRKIGDF RSLEKISREV 
KSITIIGGGF LGSELACALG RKARALGTEV IQLFPEKGNM GKILPEYLSN WTMEKVRREG 
VKVMPNAIVQ SVGVSSGKLL IKLKDGRKVE TDHIVAAVGL EPNVELAKTG GLEIDSDFGG 
FRVNAELQAR SNIWVAGDAA CFYDIKLGRR RVEHHDHAVV SGRLAGENMT GAAKPYWHQS 
MFWSDLGPDV GYEAIGLVDS SLPTVGVFAK ATAQDNPKSA TEQSGTGIRS ESETESEASE 
ITIPPSTPAV PQAPVQGEDY GKGVIFYLRD KVVVGIVLWN IFNRMPIARK IIKDGEQHED 
LNEVAKLFNI HED

Genular Protein ID: 709255341

Symbol: E9PMA0_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PMA0

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 ChEBI 6 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 4 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 1 SAM 1 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 274
  • Mass: 29938
  • Checksum: 0BFD7337C48478BC
  • Sequence:
    • MGKILPEYLS NWTMEKVRRE GVKVMPNAIV QSVGVSSGKL LIKLKDGRKV ETDHIVAAVG 
LEPNVELAKT GGLEIDSDFG GFRVNAELQA RSNIWVAGDA ACFYDIKLGR RRVEHHDHAV 
VSGRLAGENM TGAAKPYWHQ SMFWSDLGPD VGYEAIGLVD SSLPTVGVFA KATAQDNPKS 
ATEQSGTGIR SESETESEAS EITIPPSTPA VPQAPVQGED YGKGVIFYLR DKVVVGIVLW 
NIFNRMPIAR KIIKDGEQHE DLNEVAKLFN IHED

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.