LOCUS       NP_001373743             605 aa            linear   PRI 30-APR-2025
DEFINITION  apoptosis-inducing factor 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001373743
VERSION     NP_001373743.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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  (residues 1 to 605)
  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 (residues 1 to 605)
  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##
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..605
                     /product="apoptosis-inducing factor 3 isoform 1"
                     /note="apoptosis-inducing factor like; apoptosis-inducing
                     factor 3; apoptosis inducing factor mitochondria
                     associated 3; apoptosis-inducing factor,
                     mitochondrion-associated, 3"
                     /calculated_mol_wt=66660
     Region          22..45
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96NN9.1)"
     Region          70..164
                     /region_name="Rieske_AIFL_N"
                     /note="AIFL (apoptosis-inducing factor like) family,
                     N-terminal Rieske domain; members of this family show
                     similarity to human AIFL, containing an N-terminal Rieske
                     domain and a C-terminal pyridine nucleotide-disulfide
                     oxidoreductase domain (Pyr_redox). The...; cd03478"
                     /db_xref="CDD:239560"
     Site            order(109,111..112,128,131,133)
                     /site_type="other"
                     /note="[2Fe-2S] cluster binding site [ion binding]"
                     /db_xref="CDD:239560"
     Region          194..562
                     /region_name="NirB"
                     /note="NAD(P)H-nitrite reductase, large subunit [Energy
                     production and conversion]; COG1251"
                     /db_xref="CDD:440863"
     CDS             1..605
                     /gene="AIFM3"
                     /gene_synonym="AIFL"
                     /coded_by="NM_001386814.1:190..2007"
                     /note="isoform 1 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS13786.1"
                     /db_xref="GeneID:150209"
                     /db_xref="HGNC:HGNC:26398"
                     /db_xref="MIM:617298"
ORIGIN      
        1 mggcfskpkp velkievvlp ekergkeels asgkgspray qgngtarhfh teerlstphp
       61 ypspqdcvea avchvkdlen gqmrevelgw gkvllvkdng efhalghkcp hygaplvkgv
      121 lsrgrvrcpw hgacfnistg dledfpglds lhkfqvkiek ekvyvraskq alqlqrrtkv
      181 makcispsag yssstnvliv gagaaglvca etlrqegfsd rivlctldrh lpydrpklsk
      241 sldtqpeqla lrpkeffray gievlteaqv vtvdvrtkkv vfkdgfkley sklllapgss
      301 pktlsckgke venvftirtp edanrvvrla rgrnvvvvga gflgmevaay ltekahsvsv
      361 veleetpfrr flgervgral mkmfennrvk fymqtevsel rgqegklkev vlksskvvra
      421 dvcvvgigav patgflrqsg igldsrgfip vnkmmqtnvp gvfaagdavt fplawrnnrk
      481 vniphwqmah aqgrvaaqnm laqeaemstv pylwtamfgk slryagygeg fddviiqgdl
      541 eelkfvafyt kgdeviavas mnydpivskv aevlasgrai rkrevelfvl hsktgdmswl
      601 tgkgs
//
