LOCUS       NM_003689               1360 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens aldo-keto reductase family 7 member A2 (AKR7A2),
            transcript variant 1, mRNA.
ACCESSION   NM_003689
VERSION     NM_003689.4
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 1360)
  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   2  (bases 1 to 1360)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1360)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1360)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1360)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1360)
  AUTHORS   Jordanova,A., Irobi,J., Thomas,F.P., Van Dijck,P., Meerschaert,K.,
            Dewil,M., Dierick,I., Jacobs,A., De Vriendt,E., Guergueltcheva,V.,
            Rao,C.V., Tournev,I., Gondim,F.A., D'Hooghe,M., Van Gerwen,V.,
            Callaerts,P., Van Den Bosch,L., Timmermans,J.P., Robberecht,W.,
            Gettemans,J., Thevelein,J.M., De Jonghe,P., Kremensky,I. and
            Timmerman,V.
  TITLE     Disrupted function and axonal distribution of mutant tyrosyl-tRNA
            synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
  JOURNAL   Nat Genet 38 (2), 197-202 (2006)
   PUBMED   16429158
REFERENCE   7  (bases 1 to 1360)
  AUTHORS   Praml,C., Savelyeva,L. and Schwab,M.
  TITLE     Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1
            in a region frequently altered in human tumour cells
  JOURNAL   Oncogene 22 (30), 4765-4773 (2003)
   PUBMED   12879023
  REMARK    GeneRIF: structure and tissue-related expression of AFAR genes on
            chromosome 1
REFERENCE   8  (bases 1 to 1360)
  AUTHORS   Kelly,V.P., Sherratt,P.J., Crouch,D.H. and Hayes,J.D.
  TITLE     Novel homodimeric and heterodimeric rat gamma-hydroxybutyrate
            synthases that associate with the Golgi apparatus define a distinct
            subclass of aldo-keto reductase 7 family proteins
  JOURNAL   Biochem J 366 (Pt 3), 847-861 (2002)
   PUBMED   12071861
REFERENCE   9  (bases 1 to 1360)
  AUTHORS   Praml,C., Savelyeva,L., Perri,P. and Schwab,M.
  TITLE     Cloning of the human aflatoxin B1-aldehyde reductase gene at
            1p35-1p36.1 in a region frequently altered in human tumor cells
  JOURNAL   Cancer Res 58 (22), 5014-5018 (1998)
   PUBMED   9823300
  REMARK    Erratum:[Cancer Res 1999 Jun 15;59(12):3019]
REFERENCE   10 (bases 1 to 1360)
  AUTHORS   Ireland,L.S., Harrison,D.J., Neal,G.E. and Hayes,J.D.
  TITLE     Molecular cloning, expression and catalytic activity of a human
            AKR7 member of the aldo-keto reductase superfamily: evidence that
            the major 2-carboxybenzaldehyde reductase from human liver is a
            homologue of rat aflatoxin B1-aldehyde reductase
  JOURNAL   Biochem J 332 (Pt 1) (Pt 1), 21-34 (1998)
   PUBMED   9576847
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035413.19.
            
            On Jul 22, 2020 this sequence version replaced NM_003689.3.
            
            Summary: The protein encoded by this gene belongs to the aldo/keto
            reductase (AKR) superfamily and AKR7 family, which are involved in
            the detoxification of aldehydes and ketones. The AKR7 family
            consists of 3 genes that are present in a cluster on the p arm of
            chromosome 1. This protein, thought to be localized in the golgi,
            catalyzes the NADPH-dependent reduction of succinic semialdehyde to
            the endogenous neuromodulator, gamma-hydroxybutyrate. It may also
            function as a detoxication enzyme in the reduction of aflatoxin B1
            and 2-carboxybenzaldehyde. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2016].
            
            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##
            Transcript exon combination :: EU794591.1, BK000395.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000235835.8/ ENSP00000235835.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-318               AL035413.19        58134-58451
            319-506             AL035413.19        61636-61823
            507-611             AL035413.19        62016-62120
            612-708             AL035413.19        62868-62964
            709-808             AL035413.19        63177-63276
            809-938             AL035413.19        64131-64260
            939-1360            AL035413.19        65892-66313
FEATURES             Location/Qualifiers
     source          1..1360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..1360
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /note="aldo-keto reductase family 7 member A2"
                     /db_xref="GeneID:8574"
                     /db_xref="HGNC:HGNC:389"
                     /db_xref="MIM:603418"
     exon            1..318
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1100
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /EC_number="1.1.1.n11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aflatoxin beta1 aldehyde reductase; aldoketoreductase 7;
                     aflatoxin B1 aldehyde reductase member 2; AFB1-AR 1; SSA
                     reductase; AFB1 aldehyde reductase 1; succinic
                     semialdehyde reductase; HEL-S-166mP; epididymis secretory
                     sperm binding protein Li 166mP; aflatoxin aldehyde
                     reductase"
                     /codon_start=1
                     /product="aflatoxin B1 aldehyde reductase member 2 isoform
                     1"
                     /protein_id="NP_003680.2"
                     /db_xref="CCDS:CCDS194.1"
                     /db_xref="GeneID:8574"
                     /db_xref="HGNC:HGNC:389"
                     /db_xref="MIM:603418"
                     /translation="MLSAASRVVSRAAVHCALRSPPPEARALAMSRPPPPRVASVLGT
                     MEMGRRMDAPASAAAVRAFLERGHTELDTAFMYSDGQSETILGGLGLGLGGGDCRVKI
                     ATKANPWDGKSLKPDSVRSQLETSLKRLQCPQVDLFYLHAPDHGTPVEETLHACQRLH
                     QEGKFVELGLSNYASWEVAEICTLCKSNGWILPTVYQGMYNATTRQVETELFPCLRHF
                     GLRFYAYNPLAGGLLTGKYKYEDKDGKQPVGRFFGNSWAETYRNRFWKEHHFEAIALV
                     EKALQAAYGASAPSVTSAALRWMYHHSQLQGAHGDAVILGMSSLEQLEQNLAATEEGP
                     LEPAVVDAFNQAWHLVAHECPNYFR"
     exon            319..506
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     exon            507..611
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     exon            612..708
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     exon            709..808
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     exon            809..938
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1360
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1360
                     /gene="AKR7A2"
                     /gene_synonym="AFAR; AFAR1; AFB1-AR1; AKR7"
                     /note="major polyA site"
ORIGIN      
        1 aacgcgcagg cgccgctgct atgctgagtg ccgcgtctcg cgtagtctcc cgcgccgccg
       61 tccactgcgc gcttcgctct ccgccgcccg aggcccgcgc gctcgccatg tcccggccac
      121 cgccaccgcg ggtcgcctcg gtgctgggca ccatggagat ggggcgccgc atggacgcgc
      181 ccgccagcgc cgcggccgtg cgcgcctttc tggagcgcgg ccacaccgaa ctggacacgg
      241 ccttcatgta cagcgacggc cagtccgaga ccatcctggg cggcctgggg ctcgggctgg
      301 gcggtggcga ctgcagagtg aaaattgcca ccaaggccaa cccttgggat ggaaaatcac
      361 taaagcctga cagtgtccgg tcccagctgg agacgtcatt gaagaggctg cagtgtcccc
      421 aagtggacct cttctaccta cacgcacctg accacggcac cccggtggaa gagacgctgc
      481 atgcctgcca gcggctgcac caggagggca agttcgtgga gcttggcctc tccaactatg
      541 ctagctggga agtggccgag atctgtaccc tctgcaagag caatggctgg atcctgccca
      601 ctgtgtacca gggcatgtac aacgccacca cccggcaggt ggaaacggag ctcttcccct
      661 gcctcaggca ctttggactg aggttctatg cctacaaccc tctggctggg ggcctgctga
      721 ctggcaagta caagtatgag gacaaggacg ggaaacagcc tgtgggccgc ttctttggga
      781 atagctgggc tgagacctac aggaatcgct tctggaagga gcaccacttc gaggccattg
      841 cgttggtgga gaaggccctg caggccgcat atggcgccag cgcccccagt gtgacctcgg
      901 ctgccctccg gtggatgtac caccactcac agctgcaggg tgcccacggg gacgcggtca
      961 tcctgggcat gtccagcctg gagcagctgg agcagaactt ggcagcaaca gaggaagggc
     1021 ccctggagcc ggctgtcgtg gatgccttta atcaagcctg gcatttggtt gctcacgaat
     1081 gtcccaacta cttccgctag gcccatcatg gctcaggctg cccaaggctt ttctgtcacc
     1141 tcttttgttc tctcacactg accagtcttg gccttaagct gacttagaag ggtttttctg
     1201 aattgtctag atccatgcat tatttttcta gcttcctgcc ttgctcccta ttcactttac
     1261 actgtgaaag gtggggggtg agtcccactt gagcgcttcc tgttgaataa agcaggcact
     1321 tgacctggct gtagcctagg tcttgagtga accccaaaaa
//
