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2024-03-29 13:53:56, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001130847            2492 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1
            (AIFM1), transcript variant 5, mRNA.
ACCESSION   NM_001130847
VERSION     NM_001130847.3  GI:323098340
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 2492)
  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 2492)
  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 2492)
  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 2492)
  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 2492)
  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 2492)
  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 2492)
  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 2492)
  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 2492)
  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 2492)
  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, DQ016498.1 and
            BC111065.1.
            On Feb 10, 2011 this sequence version replaced gi:296923794.
            
            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 (5) contains an alternate segment
            which results in an early termination codon, compared to variant 1,
            and also fits criteria for nonsense-mediated decay (NMD). The
            resulting isoform (5) is 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 :: DQ016498.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025098 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            NMD candidate                      :: PMID: 16644725
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-163               DA624842.1         1-163
            164-223             DA624842.1         165-224
            224-2446            DQ016498.1         1-2223
            2447-2492           BC111065.1         2175-2220
FEATURES             Location/Qualifiers
     source          1..2492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     gene            1..2492
                     /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="MIM:300169"
     exon            1..337
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    121..123
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /note="upstream in-frame stop codon"
     CDS             232..1206
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5; 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 5 precursor"
                     /protein_id="NP_001124319.1"
                     /db_xref="GI:195927006"
                     /db_xref="CCDS:CCDS48167.1"
                     /db_xref="GeneID:9131"
                     /db_xref="HGNC:8768"
                     /db_xref="MIM:300169"
                     /translation="
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKDI
"
     transit_peptide 232..393
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Mitochondrion; propagated from UniProtKB/Swiss-Prot
                     (O95831.1)"
     mat_peptide     394..1203
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /product="apoptosis-inducing factor 1 isoform 5,
                     mitochondrial form"
     mat_peptide     538..1203
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /product="apoptosis-inducing factor 1 isoform 5, soluble
                     form"
                     /exception="alternative processing"
     misc_feature    544..546
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine; propagated from
                     UniProtKB/Swiss-Prot (O95831.1); phosphorylation site"
     misc_feature    640..>1197
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /note="Pyridine nucleotide-disulphide oxidoreductase;
                     Region: Pyr_redox_2; pfam07992"
                     /db_xref="CDD:203833"
     misc_feature    1033..1035
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (O95831.1); phosphorylation site"
     exon            338..480
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            481..580
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     variation       504
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1139851"
     exon            581..705
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            706..836
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            837..927
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            928..1012
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1013..1089
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1090..1198
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1199..1401
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1402..1509
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1510..1598
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1599..1739
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1740..1882
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            1883..2007
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     exon            2008..2204
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     STS             2197..2342
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /standard_name="RH12533"
                     /db_xref="UniSTS:72334"
     exon            2205..2471
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    2445..2450
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
     polyA_site      2471
                     /gene="AIFM1"
                     /gene_synonym="AIF; CMTX4; COWCK; COXPD6; PDCD8"
ORIGIN      
aatgcggcagcgagtgctacgcctgcgcagtaggcctccggtcgccgttccccttccccggctctagcaggccggcttctctgtccaatgcccacccggagctgggaggaggagtctgcgtaatgtgcgtgtgaagagactgggggagctggccggggctcacggtgtttgacccgtcggtcgtgcgtgagaggaaagggaaggaggaggtcccgaatagcggtcgccgaaatgttccggtgtggaggcctggcggcgggtgctttgaagcagaagctggtgcccttggtgcggaccgtgtgcgtccgaagcccgaggcagaggaaccggctcccaggcaacttgttccagcgatggcatgttcctctagaactccagatgacaagacaaatggctagctctggtgcatcagggggcaaaatcgataattctgtgttagtccttattgtgggcttatcaacagtaggagctggtgcctatgcctacaagactatgaaagaggatgaaaaaagatacaatgaaagaatttcagggttagggctgacaccagaacagaaacagaaaaaggccgcgttatctgcttcagaaggagaggaagttcctcaagacaaggcgccaagtcatgttcctttcctgctaattggtggaggcacagctgcttttgctgcagccagatccatccgggctcgggatcctggggccagggtactgattgtatctgaagatcctgagctgccgtacatgcgacctcctctttcaaaagaactgtggttttcagatgacccaaatgtcacaaagacactgcgattcaaacagtggaatggaaaagagagaagcatatatttccagccaccttctttctatgtctctgctcaggacctgcctcatattgagaatggtggtgtggctgtcctcactgggaagaaggtagtacagctggatgtgagagacaacatggtgaaacttaatgatggctctcaaataacctatgaaaagtgcttgattgcaacaggaggtactccaagaagtctgtctgccattgatagggctggagcagaggtgaagagtagaacaacgcttttcagaaagattggagactttagaagcttggagaagatttcacgggaagtcaaatcaattacgattatcggtgggggcttccttggtagcgaactggcctgtgctcttggcagaaaggatatatgaaatcagggcatcttttcaggaggatgcttcctattcagaggttgcaaagcacttatgtaagccttaggtgactgcatgggtggaagtgcacagagttcaccatctgaagcttaatctggggccagcagttctgatacctgttgtatttgcgttacaaatgaacttgagcaccgaggccctcatgcccactgtcctctcgagccttgggcacagaagtgattcaactcttccccgagaaaggaaatatgggaaagatcctccccgaatacctcagcaactggaccatggaaaaagtcagacgagagggggttaaggtgatgcccaatgctattgtgcaatccgttggagtcagcagtggcaagttacttatcaagctgaaagacggcaggaaggtagaaactgaccacatagtggcagctgtgggcctggagcccaatgttgagttggccaagactggtggcctggaaatagactcagattttggtggcttccgggtaaatgcagagctacaagcacgctctaacatctgggtggcaggagatgctgcatgcttctacgatataaagttgggaaggaggcgggtagagcaccatgatcacgctgttgtgagtggaagattggctggagaaaatatgactggagctgctaagccgtactggcatcagtcaatgttctggagtgatttgggccccgatgttggctatgaagctattggtcttgtggacagtagtttgcccacagttggtgtttttgcaaaagcaactgcacaagacaaccccaaatctgccacagagcagtcaggaactggtatccgatcagagagtgagacagagtccgaggcctcagaaattactattcctcccagcaccccggcagttccacaggctcccgtccagggggaggactacggcaaaggtgtcatcttctacctcagggacaaagtggtcgtggggattgtgctatggaacatctttaaccgaatgccaatagcaaggaagatcattaaggacggtgagcagcatgaagatctcaatgaagtagccaaactattcaacattcatgaagactgaagccccacagtggaattggcaaacccactgcagcccctgagaggaggtcgaatgggtaaaggagcatttttttattcagcagactttctctgtgtatgagtgtgaatgatcaagtcctttgtgaatattttcaactatgtaggtaaattcttaatgttcacatagtgaaataaattctgattcttctaaattaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

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

by @meso_cacase at DBCLS
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