LOCUS       NM_001386814            2334 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens AIF family member 3 (AIFM3), transcript variant 5,
            mRNA.
ACCESSION   NM_001386814
VERSION     NM_001386814.1
KEYWORDS    RefSeq; MANE Select.
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 2334)
  AUTHORS   Chua-On,D., Proungvitaya,T., Techasen,A., Limpaiboon,T.,
            Roytrakul,S., Tummanatsakun,D., Araki,N. and Proungvitaya,S.
  TITLE     Bioinformatic Prediction of Novel Signaling Pathways of
            Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and
            Their Roles in Metastasis of Cholangiocarcinoma Cells
  JOURNAL   Cancer Genomics Proteomics 19 (1), 35-49 (2022)
   PUBMED   34949658
  REMARK    GeneRIF: Bioinformatic Prediction of Novel Signaling Pathways of
            Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and
            Their Roles in Metastasis of Cholangiocarcinoma Cells.
REFERENCE   2  (bases 1 to 2334)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 2334)
  AUTHORS   Lozic,M., Minarik,L., Racetin,A., Filipovic,N., Saraga Babic,M. and
            Vukojevic,K.
  TITLE     CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development
  JOURNAL   Int J Mol Sci 22 (17), 9183 (2021)
   PUBMED   34502088
  REMARK    GeneRIF: CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney
            Development.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2334)
  AUTHORS   Chua-On,D., Proungvitaya,T., Tummanatsakun,D., Techasen,A.,
            Limpaiboon,T., Roytrakul,S., Wongkham,S., Wongkham,C.,
            Somintara,O., Sangkhamanon,S. and Proungvitaya,S.
  TITLE     Apoptosis-Inducing Factor, Mitochondrion-Associated 3 (AIFM3)
            Protein Level in the Sera as a Prognostic Marker of
            Cholangiocarcinoma Patients
  JOURNAL   Biomolecules 10 (7), 1021 (2020)
   PUBMED   32664187
  REMARK    GeneRIF: Apoptosis-Inducing Factor, Mitochondrion-Associated 3
            (AIFM3) Protein Level in the Sera as a Prognostic Marker of
            Cholangiocarcinoma Patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2334)
  AUTHORS   Zheng,A., Zhang,L., Song,X., Wang,Y., Wei,M. and Jin,F.
  TITLE     Clinical implications of a novel prognostic factor AIFM3 in breast
            cancer patients
  JOURNAL   BMC Cancer 19 (1), 451 (2019)
   PUBMED   31088422
  REMARK    GeneRIF: AIFM3 was significantly more expressed in breast cancer
            tissues than in normal tissues. There was a significant association
            of AIFM3 expression with tumor size, lymph node metastasis,
            molecular typing and TNM staging. Lymph node metastasis and TNM
            stage were independent factors of AIFM3 expression. High AIFM3
            expression was related to a shorter OS and DFS.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2334)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2334)
  AUTHORS   Satoh,J., Obayashi,S., Misawa,T., Sumiyoshi,K., Oosumi,K. and
            Tabunoki,H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   8  (bases 1 to 2334)
  AUTHORS   Ashktorab,H., Dashwood,R.H., Dashwood,M.M., Zaidi,S.I.,
            Hewitt,S.M., Green,W.R., Lee,E.L., Daremipouran,M., Nouraie,M.,
            Malekzadeh,R. and Smoot,D.T.
  TITLE     H. pylori-induced apoptosis in human gastric cancer cells mediated
            via the release of apoptosis-inducing factor from mitochondria
  JOURNAL   Helicobacter 13 (6), 506-517 (2008)
   PUBMED   19166416
  REMARK    GeneRIF: H. pylori triggers apoptosis in AGS cells via interaction
            with death receptors in the plasma membrane, leading to the
            cleavage of procaspase-8, release of cytochrome c and AIF from
            mitochondria, and activation of subsequent downstream apoptotic
            events
REFERENCE   9  (bases 1 to 2334)
  AUTHORS   Urbano,A., Lakshmanan,U., Choo,P.H., Kwan,J.C., Ng,P.Y., Guo,K.,
            Dhakshinamoorthy,S. and Porter,A.
  TITLE     AIF suppresses chemical stress-induced apoptosis and maintains the
            transformed state of tumor cells
  JOURNAL   EMBO J 24 (15), 2815-2826 (2005)
   PUBMED   16001080
  REMARK    GeneRIF: AIF maintains the transformed state of colon cancer cells
            through its NADH oxidase activity, by mechanisms that involve
            complex I function.
REFERENCE   10 (bases 1 to 2334)
  AUTHORS   Xie,Q., Lin,T., Zhang,Y., Zheng,J. and Bonanno,J.A.
  TITLE     Molecular cloning and characterization of a human AIF-like gene
            with ability to induce apoptosis
  JOURNAL   J Biol Chem 280 (20), 19673-19681 (2005)
   PUBMED   15764604
  REMARK    GeneRIF: AIFL has 598 amino acids, with a characteristic Rieske
            domain and a pyridine nucleotide-disulfide oxidoreductase domain
            (Pyr_redox). AIFL shares 35% homology with AIF, mainly in the
            Pyr_redox domain.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002470.17 and KF457368.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            CDS exon combination :: CR456342.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145743, SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 15764604; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000440238.4/
                                                  ENSP00000390798.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AC002470.17        202932-202980
            50-220              AC002470.17        203482-203652
            221-434             AC002470.17        208985-209198
            435-544             AC002470.17        209436-209545
            545-654             AC002470.17        209741-209850
            655-699             AC002470.17        209930-209974
            700-796             AC002470.17        210203-210299
            797-909             AC002470.17        210382-210494
            910-996             AC002470.17        211370-211456
            997-1088            AC002470.17        211893-211984
            1089-1219           AC002470.17        212086-212216
            1220-1335           KF457368.1         90-205
            1336-1402           KF457368.1         306-372
            1403-1407           AC002470.17        212612-212616
            1408-1471           AC002470.17        212710-212773
            1472-1548           AC002470.17        213378-213454
            1549-1666           AC002470.17        213566-213683
            1667-1765           AC002470.17        214949-215047
            1766-1841           AC002470.17        215305-215380
            1842-1946           AC002470.17        215698-215802
            1947-1967           AC002470.17        216425-216445
            1968-2334           AC002470.17        216670-217036
FEATURES             Location/Qualifiers
     source          1..2334
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2334
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /note="AIF family member 3"
                     /db_xref="GeneID:150209"
                     /db_xref="HGNC:HGNC:26398"
                     /db_xref="MIM:617298"
     exon            1..49
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            50..220
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..2007
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /note="isoform 1 is encoded by transcript variant 5;
                     apoptosis-inducing factor like; apoptosis-inducing factor
                     3; apoptosis inducing factor mitochondria associated 3;
                     apoptosis-inducing factor, mitochondrion-associated, 3"
                     /codon_start=1
                     /product="apoptosis-inducing factor 3 isoform 1"
                     /protein_id="NP_001373743.1"
                     /db_xref="CCDS:CCDS13786.1"
                     /db_xref="GeneID:150209"
                     /db_xref="HGNC:HGNC:26398"
                     /db_xref="MIM:617298"
                     /translation="MGGCFSKPKPVELKIEVVLPEKERGKEELSASGKGSPRAYQGNG
                     TARHFHTEERLSTPHPYPSPQDCVEAAVCHVKDLENGQMREVELGWGKVLLVKDNGEF
                     HALGHKCPHYGAPLVKGVLSRGRVRCPWHGACFNISTGDLEDFPGLDSLHKFQVKIEK
                     EKVYVRASKQALQLQRRTKVMAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGF
                     SDRIVLCTLDRHLPYDRPKLSKSLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVR
                     TKKVVFKDGFKLEYSKLLLAPGSSPKTLSCKGKEVENVFTIRTPEDANRVVRLARGRN
                     VVVVGAGFLGMEVAAYLTEKAHSVSVVELEETPFRRFLGERVGRALMKMFENNRVKFY
                     MQTEVSELRGQEGKLKEVVLKSSKVVRADVCVVGIGAVPATGFLRQSGIGLDSRGFIP
                     VNKMMQTNVPGVFAAGDAVTFPLAWRNNRKVNIPHWQMAHAQGRVAAQNMLAQEAEMS
                     TVPYLWTAMFGKSLRYAGYGEGFDDVIIQGDLEELKFVAFYTKGDEVIAVASMNYDPI
                     VSKVAEVLASGRAIRKREVELFVLHSKTGDMSWLTGKGS"
     exon            221..434
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            435..544
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            545..654
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            655..699
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            700..796
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            797..909
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            910..996
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1088
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1219
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1335
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1407
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1471
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1548
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..1666
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1765
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1766..1841
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1842..1946
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..1967
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2334
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2312..2317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /note="hexamer: ATTAAA"
     polyA_site      2312
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /note="major polyA site"
     polyA_site      2334
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /note="major polyA site"
ORIGIN      
        1 agtccactgc tgggcctgga acacggagca gtggctgccc tgcgaggagg tcctagagca
       61 gctccagcag gatggcggct ccagcgtctc taaggcctgc agggggtcca gccccatggg
      121 gggcgcccta ggcctccgac agctccccat ctgtgctcct gcctgccggc catcctcagg
      181 ccactcgcca tgggcggctg cttctccaaa cccaaaccag tggagctcaa gatcgaggtg
      241 gtgctgcctg agaaggagcg aggcaaggag gagctgtcgg ccagtgggaa gggcagcccc
      301 cgggcctacc agggcaatgg cacggcccgc cacttccaca cggaggagcg cctgtccacc
      361 cctcacccct accccagccc tcaggattgc gtggaggctg ctgtctgcca cgtcaaggac
      421 ctcgagaatg gccagatgcg ggaagtggag ctgggctggg ggaaggtgtt gctggtgaag
      481 gacaatgggg agttccacgc cctgggccat aagtgtccgc actacggcgc acccctggtg
      541 aaaggcgttc tgtcccgtgg tcgggtgcgc tgcccctggc acggcgcctg cttcaacatc
      601 agcactgggg acctggagga cttccctggc ctggacagtc tacacaagtt ccaggtgaag
      661 attgagaagg agaaggtgta cgtccgggcc agcaagcagg ccctacagct gcagcgaagg
      721 accaaggtga tggccaagtg tatctctcca agtgctgggt acagcagtag caccaatgtg
      781 ctcattgtgg gtgcaggtgc agctggcctg gtgtgtgcag agacactgcg gcaggagggc
      841 ttctccgacc ggatcgtcct gtgcacgcta gaccggcacc ttccctacga ccgtcccaag
      901 ctcagcaagt ccctggacac acagcctgag cagctggccc tgaggcccaa ggagtttttc
      961 cgagcctatg gcatcgaggt gctcaccgag gctcaggtgg tcacagtgga cgtgagaact
     1021 aagaaggtcg tgttcaagga tggcttcaag ctggagtaca gcaagctgct gctggcacca
     1081 gggagcagcc ccaagactct gagctgcaaa ggcaaagaag tggagaacgt gttcactatc
     1141 cggacgccag aggatgccaa tcgcgtggtg aggctggccc gaggccgcaa cgtggtcgtc
     1201 gtgggagccg gcttcctggg gatggaggtg gccgcttacc tgacggagaa ggcccactct
     1261 gtgtctgtgg tggagctgga ggagacgccc ttcaggaggt tcctggggga gcgcgtgggt
     1321 cgtgccctca tgaagatgtt tgagaacaac cgggtgaagt tctacatgca gacggaggtg
     1381 tctgagctgc ggggccagga gggaaagctg aaggaggttg tgctgaagag cagcaaggtc
     1441 gtgcgggctg acgtctgcgt ggtgggcatt ggtgcagtgc ccgccacagg cttcctgagg
     1501 caaagcggca tcggtttgga ttcccgaggc ttcatccctg tcaacaagat gatgcagacc
     1561 aatgtcccag gcgtgtttgc agctggcgat gctgtcacct tcccccttgc ctggaggaac
     1621 aaccgcaaag tgaacattcc acattggcag atggctcatg ctcaggggcg cgtggcagcc
     1681 cagaacatgt tggcgcagga ggcggagatg agcactgtgc cctacctctg gaccgccatg
     1741 tttggcaaga gcctgcgcta cgcgggctac ggagaaggct tcgacgacgt catcatccag
     1801 ggggatctgg aggagctgaa gtttgtggct ttttacacta aaggcgacga ggtgatcgcc
     1861 gtggccagca tgaactacga tcccattgtg tccaaggtcg ctgaggtgct ggcctcaggc
     1921 cgtgccatcc ggaagcggga ggtggagctg tttgtgctgc acagcaagac tggcgacatg
     1981 tcctggctta cggggaaagg atcctgagct cacatgcagt agacttgggc aggcaaaggg
     2041 ggcaccaagg gcacaggcca agccttgggg gcaggtgcca atctccagtc ccaggatccc
     2101 ccagggcaga acctgagccc tcccagtgct tgccttcagc cacctggctc ccctcctggg
     2161 aggcctctgc tggatccaga agatgctcaa ccctcaaggc ctctgctgcc actgacagct
     2221 ggcactggag gcaggacaag ccctgcctct tctccctcta ttgggactgg tcccctgaag
     2281 aaccctgcaa cacgttaaac attaccgtaa aattaaaacg cacaaatttg caga
//
