2024-04-23 22:52:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_145813 1428 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), transcript variant 3, mRNA. ACCESSION NM_145813 VERSION NM_145813.2 GI:323098338 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1428) AUTHORS Lewis,E.M., Wilkinson,A.S., Jackson,J.S., Mehra,R., Varambally,S., Chinnaiyan,A.M. and Wilkinson,J.C. TITLE The enzymatic activity of apoptosis-inducing factor supports energy metabolism benefiting the growth and invasiveness of advanced prostate cancer cells JOURNAL J. Biol. Chem. 287 (52), 43862-43875 (2012) PUBMED 23118229 REMARK GeneRIF: AIF is an important factor for advanced prostate cancer cells and that through control of energy metabolism and redox balance, the enzymatic activity of AIF is critical for this support. REFERENCE 2 (bases 1 to 1428) AUTHORS Rinaldi,C., Grunseich,C., Sevrioukova,I.F., Schindler,A., Horkayne-Szakaly,I., Lamperti,C., Landoure,G., Kennerson,M.L., Burnett,B.G., Bonnemann,C., Biesecker,L.G., Ghezzi,D., Zeviani,M. and Fischbeck,K.H. TITLE Cowchock syndrome is associated with a mutation in apoptosis-inducing factor JOURNAL Am. J. Hum. Genet. 91 (6), 1095-1102 (2012) PUBMED 23217327 REMARK GeneRIF: Our findings expand the spectrum of AIF-related disease and provide insight into the effects of AIFM1 mutations. REFERENCE 3 (bases 1 to 1428) AUTHORS Varecha,M., Paclova,D., Prochazkova,J., Matula,P., Cmarko,D. and Kozubek,M. TITLE Knockdown of apoptosis-inducing factor disrupts function of respiratory complex I JOURNAL Biocell 36 (3), 121-126 (2012) PUBMED 23682427 REMARK GeneRIF: AIF knockdown disrupts function of complex I and therefore increases the superoxide production in mitochondria REFERENCE 4 (bases 1 to 1428) AUTHORS Ghezzi,D., Sevrioukova,I., Invernizzi,F., Lamperti,C., Mora,M., D'Adamo,P., Novara,F., Zuffardi,O., Uziel,G. and Zeviani,M. TITLE Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor JOURNAL Am. J. Hum. Genet. 86 (4), 639-649 (2010) PUBMED 20362274 REMARK GeneRIF: AIFM1 mutation is associated with severe X-linked mitochondrial encephalomyopathy. REFERENCE 5 (bases 1 to 1428) AUTHORS Delettre,C., Yuste,V.J., Moubarak,R.S., Bras,M., Robert,N. and Susin,S.A. TITLE Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity JOURNAL J. Biol. Chem. 281 (27), 18507-18518 (2006) PUBMED 16644725 REMARK GeneRIF: the cloning and the biochemical characterization of a new isoform named AIF short 2 (AIFsh2) REFERENCE 6 (bases 1 to 1428) AUTHORS Delettre,C., Yuste,V.J., Moubarak,R.S., Bras,M., Lesbordes-Brion,J.C., Petres,S., Bellalou,J. and Susin,S.A. TITLE AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer JOURNAL J. Biol. Chem. 281 (10), 6413-6427 (2006) PUBMED 16365034 REMARK GeneRIF: AIF short (AIFsh), a new pro-apoptotic isoform of AIF, reveals that the first N-terminal 352 amino acids of AIF are not required for its apoptotic activity. REFERENCE 7 (bases 1 to 1428) AUTHORS Otera,H., Ohsakaya,S., Nagaura,Z., Ishihara,N. and Mihara,K. TITLE Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space JOURNAL EMBO J. 24 (7), 1375-1386 (2005) PUBMED 15775970 REFERENCE 8 (bases 1 to 1428) AUTHORS Susin,S.A., Lorenzo,H.K., Zamzami,N., Marzo,I., Snow,B.E., Brothers,G.M., Mangion,J., Jacotot,E., Costantini,P., Loeffler,M., Larochette,N., Goodlett,D.R., Aebersold,R., Siderovski,D.P., Penninger,J.M. and Kroemer,G. TITLE Molecular characterization of mitochondrial apoptosis-inducing factor JOURNAL Nature 397 (6718), 441-446 (1999) PUBMED 9989411 REFERENCE 9 (bases 1 to 1428) AUTHORS Susin,S.A., Lorenzo,H.K., Zamzami,N., Marzo,I., Brenner,C., Larochette,N., Prevost,M.C., Alzari,P.M. and Kroemer,G. TITLE Mitochondrial release of caspase-2 and -9 during the apoptotic process JOURNAL J. Exp. Med. 189 (2), 381-394 (1999) PUBMED 9892620 REFERENCE 10 (bases 1 to 1428) AUTHORS Susin,S.A., Zamzami,N., Castedo,M., Daugas,E., Wang,H.G., Geley,S., Fassy,F., Reed,J.C. and Kroemer,G. TITLE The central executioner of apoptosis: multiple connections between protease activation and mitochondria in Fas/APO-1/CD95- and ceramide-induced apoptosis JOURNAL J. Exp. Med. 186 (1), 25-37 (1997) PUBMED 9206994 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA624842.1, AL049704.1 and BC111065.1. On Feb 10, 2011 this sequence version replaced gi:22202630. Summary: 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, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]. Transcript Variant: This variant (3) lacks several in-frame exons in the 5' coding region compared to variant 1, resulting in an isoform (3) that is 287 aa shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL049704.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025088, ERS025098 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-163 DA624842.1 1-163 164-207 DA624842.1 165-208 208-1397 AL049704.1 1-1190 1398-1428 BC111065.1 2190-2220 FEATURES Location/Qualifiers source 1..1428 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq26.1" gene 1..1428 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /note="apoptosis-inducing factor, mitochondrion-associated, 1" /db_xref="GeneID:9131" /db_xref="HGNC:8768" /db_xref="HPRD:02161" /db_xref="MIM:300169" exon 1..337 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(52) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:111771030" STS 97..1317 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /db_xref="UniSTS:489761" variation complement(99) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:112383408" misc_feature 121..123 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /note="upstream in-frame stop codon" variation complement(183) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:201797120" CDS 232..1212 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /note="isoform 3 is encoded by transcript variant 3; programmed cell death 8 (apoptosis-inducing factor); apoptosis-inducing factor 1, mitochondrial; striatal apoptosis-inducing factor" /codon_start=1 /product="apoptosis-inducing factor 1, mitochondrial isoform 3" /protein_id="NP_665812.1" /db_xref="GI:22202631" /db_xref="GeneID:9131" /db_xref="HGNC:8768" /db_xref="HPRD:02161" /db_xref="MIM:300169" /translation="
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED
" misc_feature <427..702 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /note="Pyridine nucleotide-disulphide oxidoreductase; Region: Pyr_redox_2; pfam07992" /db_xref="CDD:203833" variation complement(260) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:143831137" variation complement(285) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="g" /db_xref="dbSNP:140076585" variation complement(303) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:373609902" variation complement(306) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:370229006" variation complement(334) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:61730896" exon 338..445 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(361) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:199531131" variation complement(366) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:12007545" variation complement(375) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:371944474" variation complement(400) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:184474885" exon 446..534 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(479) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:149001713" exon 535..675 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(597) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="g" /replace="t" /db_xref="dbSNP:61730898" variation complement(604) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:368597390" exon 676..818 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(699) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:143792929" variation complement(758) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="g" /replace="t" /db_xref="dbSNP:202219398" variation complement(786) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:141324245" variation complement(795) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:374163852" exon 819..943 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(834) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:146608893" variation complement(845) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:61752975" variation 848 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="t" /db_xref="dbSNP:281864468" variation complement(879) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:373137270" variation complement(903) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:180740527" variation complement(904) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:369259253" variation complement(913) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:144266307" exon 944..1140 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(963) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:375825554" variation complement(978) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:193002766" variation complement(1003) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:139322490" variation complement(1014) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:150821143" variation complement(1033) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:201753098" variation complement(1077) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:2239772" variation complement(1078) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:142295482" STS 1133..1278 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /standard_name="RH12533" /db_xref="UniSTS:72334" exon 1141..1407 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /inference="alignment:Splign:1.39.8" variation complement(1149) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:200543681" variation complement(1152) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:148690239" variation complement(1175) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:147206884" variation complement(1203) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="c" /replace="t" /db_xref="dbSNP:73556209" variation complement(1263) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:368784279" variation complement(1352) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="t" /db_xref="dbSNP:375088796" variation complement(1372) /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" /replace="a" /replace="g" /db_xref="dbSNP:189635584" polyA_signal 1381..1386 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" polyA_site 1407 /gene="AIFM1" /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8" ORIGIN
aatgcggcagcgagtgctacgcctgcgcagtaggcctccggtcgccgttccccttccccggctctagcaggccggcttctctgtccaatgcccacccggagctgggaggaggagtctgcgtaatgtgcgtgtgaagagactgggggagctggccggggctcacggtgtttgacccgtcggtcgtgcgtgagaggaaagggaaggaggaggtcccgaatagcggtcgccgaaatgttccggtgtggaggcctggcggcgggtgctttgaagcagaagctggtgcccttggtgcggaccgtgtgcgtccgaagcccgaggcagaggaaccggctcccagctcgagccttgggcacagaagtgattcaactcttccccgagaaaggaaatatgggaaagatcctccccgaatacctcagcaactggaccatggaaaaagtcagacgagagggggttaaggtgatgcccaatgctattgtgcaatccgttggagtcagcagtggcaagttacttatcaagctgaaagacggcaggaaggtagaaactgaccacatagtggcagctgtgggcctggagcccaatgttgagttggccaagactggtggcctggaaatagactcagattttggtggcttccgggtaaatgcagagctacaagcacgctctaacatctgggtggcaggagatgctgcatgcttctacgatataaagttgggaaggaggcgggtagagcaccatgatcacgctgttgtgagtggaagattggctggagaaaatatgactggagctgctaagccgtactggcatcagtcaatgttctggagtgatttgggccccgatgttggctatgaagctattggtcttgtggacagtagtttgcccacagttggtgtttttgcaaaagcaactgcacaagacaaccccaaatctgccacagagcagtcaggaactggtatccgatcagagagtgagacagagtccgaggcctcagaaattactattcctcccagcaccccggcagttccacaggctcccgtccagggggaggactacggcaaaggtgtcatcttctacctcagggacaaagtggtcgtggggattgtgctatggaacatctttaaccgaatgccaatagcaaggaagatcattaaggacggtgagcagcatgaagatctcaatgaagtagccaaactattcaacattcatgaagactgaagccccacagtggaattggcaaacccactgcagcccctgagaggaggtcgaatgggtaaaggagcatttttttattcagcagactttctctgtgtatgagtgtgaatgatcaagtcctttgtgaatattttcaactatgtaggtaaattcttaatgttcacatagtgaaataaattctgattcttctaaattaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9131 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:9131 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:9131 -> Molecular function: GO:0009055 [electron carrier activity] evidence: TAS GeneID:9131 -> Molecular function: GO:0016651 [oxidoreductase activity, acting on NAD(P)H] evidence: IDA GeneID:9131 -> Molecular function: GO:0050660 [flavin adenine dinucleotide binding] evidence: IEA GeneID:9131 -> Biological process: GO:0006309 [apoptotic DNA fragmentation] evidence: IEA GeneID:9131 -> Biological process: GO:0006915 [apoptotic process] evidence: IMP GeneID:9131 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IDA GeneID:9131 -> Biological process: GO:0030182 [neuron differentiation] evidence: IDA GeneID:9131 -> Biological process: GO:0032981 [mitochondrial respiratory chain complex I assembly] evidence: IMP GeneID:9131 -> Biological process: GO:0045454 [cell redox homeostasis] evidence: IEA GeneID:9131 -> Biological process: GO:0051402 [neuron apoptotic process] evidence: IEA GeneID:9131 -> Biological process: GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] evidence: ISS GeneID:9131 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:9131 -> Cellular component: GO:0005634 [nucleus] evidence: ISS GeneID:9131 -> Cellular component: GO:0005739 [mitochondrion] evidence: TAS GeneID:9131 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: IEA GeneID:9131 -> Cellular component: GO:0005758 [mitochondrial intermembrane space] evidence: IDA GeneID:9131 -> Cellular component: GO:0005758 [mitochondrial intermembrane space] evidence: IMP GeneID:9131 -> Cellular component: GO:0005829 [cytosol] evidence: ISS GeneID:9131 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IEA
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