LOCUS       NM_001040177            1613 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens aldo-keto reductase family 1 member E2 (AKR1E2),
            transcript variant 1, mRNA.
ACCESSION   NM_001040177
VERSION     NM_001040177.3
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 1613)
  AUTHORS   Bunyavanich,S., Schadt,E.E., Himes,B.E., Lasky-Su,J., Qiu,W.,
            Lazarus,R., Ziniti,J.P., Cohain,A., Linderman,M., Torgerson,D.G.,
            Eng,C.S., Pino-Yanes,M., Padhukasahasram,B., Yang,J.J.,
            Mathias,R.A., Beaty,T.H., Li,X., Graves,P., Romieu,I., Navarro
            Bdel,R., Salam,M.T., Vora,H., Nicolae,D.L., Ober,C., Martinez,F.D.,
            Bleecker,E.R., Meyers,D.A., Gauderman,W.J., Gilliland,F.,
            Burchard,E.G., Barnes,K.C., Williams,L.K., London,S.J., Zhang,B.,
            Raby,B.A. and Weiss,S.T.
  TITLE     Integrated genome-wide association, coexpression network, and
            expression single nucleotide polymorphism analysis identifies novel
            pathway in allergic rhinitis
  JOURNAL   BMC Med Genomics 7, 48 (2014)
   PUBMED   25085501
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1613)
  AUTHORS   Yang,F., Chen,X.D., Tan,L.J., Shen,J., Li,D.Y., Zhang,F., Sha,B.Y.
            and Deng,H.W.
  TITLE     Genome wide association study: searching for genes underlying body
            mass index in the Chinese
  JOURNAL   Biomed Environ Sci 27 (5), 360-370 (2014)
   PUBMED   24827717
REFERENCE   3  (bases 1 to 1613)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   4  (bases 1 to 1613)
  AUTHORS   Clancy,R.M., Marion,M.C., Kaufman,K.M., Ramos,P.S., Adler,A.,
            Harley,J.B., Langefeld,C.D. and Buyon,J.P.
  CONSRTM   International Consortium on Systemic Lupus Erythematosus Genetics
  TITLE     Identification of candidate loci at 6p21 and 21q22 in a genome-wide
            association study of cardiac manifestations of neonatal lupus
  JOURNAL   Arthritis Rheum 62 (11), 3415-3424 (2010)
   PUBMED   20662065
REFERENCE   5  (bases 1 to 1613)
  AUTHORS   Mindnich,R.D. and Penning,T.M.
  TITLE     Aldo-keto reductase (AKR) superfamily: genomics and annotation
  JOURNAL   Hum Genomics 3 (4), 362-370 (2009)
   PUBMED   19706366
  REMARK    Review article
REFERENCE   6  (bases 1 to 1613)
  AUTHORS   Azuma,Y., Nishinaka,T., Ushijima,S., Soh,J., Katsuyama,M., Lu,H.P.,
            Kawata,M., Yabe-Nishimura,C. and Miki,T.
  TITLE     Characterization of htAKR, a novel gene product in the aldo-keto
            reductase family specifically expressed in human testis
  JOURNAL   Mol Hum Reprod 10 (7), 527-533 (2004)
   PUBMED   15118078
  REMARK    GeneRIF: results indicate that the expression of human testis
            aldo-keto reductase, down-regulated in the testicular tumour, is
            possibly controlled by mitogenic and hormonal signals
REFERENCE   7  (bases 1 to 1613)
  AUTHORS   Nishinaka,T., Azuma,Y., Ushijima,S., Miki,T. and Yabe-Nishimura,C.
  TITLE     Human testis specific protein: a new member of aldo-keto reductase
            superfamily
  JOURNAL   Chem Biol Interact 143-144, 299-305 (2003)
   PUBMED   12604216
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI756016.1, DA006578.1,
            AF263242.1 and BU741321.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001040177.2.
            
            Summary: The protein encoded by this gene is a member of the
            aldo-keto reductase superfamily. Members in this family are
            characterized by their structure (evolutionarily highly conserved
            TIM barrel) and function (NAD(P)H-dependent oxido-reduction of
            carbonyl groups). Transcripts of this gene have been reported in
            specimens of human testis. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF263242.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298375.12/ ENSP00000298375.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BI756016.1         77-79
            4-561               DA006578.1         1-558
            562-1053            AF263242.1         464-955
            1054-1613           BU741321.1         14-573              c
FEATURES             Location/Qualifiers
     source          1..1613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.1"
     gene            1..1613
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="aldo-keto reductase family 1 member E2"
                     /db_xref="GeneID:83592"
                     /db_xref="HGNC:HGNC:23437"
                     /db_xref="MIM:617451"
     exon            1..157
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..1081
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /EC_number="1.1.1.263"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldo-keto reductase family 1, member C-like 2; aldo-keto
                     reductase loopADR; 1,5-anhydro-D-fructose reductase; AF
                     reductase; testis-specific protein; aldo-keto reductase
                     family 1 member C-like protein 2; testis aldo-keto
                     reductase; human testis specific protein; human testis
                     aldo-keto reductase"
                     /codon_start=1
                     /product="1,5-anhydro-D-fructose reductase isoform 1"
                     /protein_id="NP_001035267.1"
                     /db_xref="CCDS:CCDS31134.1"
                     /db_xref="GeneID:83592"
                     /db_xref="HGNC:HGNC:23437"
                     /db_xref="MIM:617451"
                     /translation="MGDIPAVGLSSWKASPGKVTEAVKEAIDAGYRHFDCAYFYHNER
                     EVGAGIRCKIKEGAVRREDLFIATKLWCTCHKKSLVETACRKSLKALKLNYLDLYLIH
                     WPMGFKPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVI
                     TGLVKNIGVSNFNHEQLERLLNKPGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVT
                     AYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKE
                     NIQVFDFELTQHDMDNILSLNRNLRLAMFPITKNHKDYPFHIEY"
     exon            158..325
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            326..442
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            443..577
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            578..700
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            701..798
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            799..871
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            872..955
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1038
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1613
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1585..1590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="hexamer: AATAAA"
     polyA_site      1613
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="major polyA site"
ORIGIN      
        1 gtcacaaggc acttccagcc agtcgcaacg gcgggtcgcc agcgccgcag tagctcgcgc
       61 ggtgcctgtc ggtagtcgcg tgcggggcgg cggggcggcg gggcggccgg cggcggccat
      121 gggagatatc ccagccgtgg gcctcagctc ctggaaggct tctccaggga aagtgaccga
      181 ggcagtgaaa gaggccattg acgcagggta ccggcacttc gactgtgctt acttttacca
      241 caatgagagg gaggttggag cagggatccg ttgcaagatc aaggaaggcg ctgtaagacg
      301 ggaggatctg ttcattgcca ctaagctgtg gtgcacctgc cataagaagt ccttggtgga
      361 aacagcatgc agaaagagtc tcaaggcctt gaagctgaac tatttggacc tctacctcat
      421 acactggccc atgggtttca agcctcctca tccagaatgg atcatgagct gcagtgaact
      481 ttccttctgc ctctcacatc ctcgagtgca ggacttgcct ctggacgaga gcaacatggt
      541 tattcccagt gacacggact tcctggacac gtgggaggcc atggaggacc tggtgatcac
      601 cgggctggtg aagaacatcg gggtgtcaaa cttcaaccat gaacagcttg agaggctttt
      661 gaataagcct gggttgaggt tcaagccact aaccaaccag attgagtgcc acccatatct
      721 tactcagaag aatctgatca gtttttgcca atccagagat gtgtccgtga ctgcttaccg
      781 tcctcttggt ggctcgtgtg agggggttga cctgatagac aaccctgtga tcaagaggat
      841 tgcaaaggag cacggcaagt ctcctgctca gattttgatc cgatttcaaa tccagaggaa
      901 tgtgatagtg atccccggat ctatcacccc aagtcacatt aaagagaata tccaggtgtt
      961 tgattttgaa ttaacacagc acgatatgga taacatcctc agcctaaaca ggaatctccg
     1021 actggccatg ttccccataa ctaaaaatca caaagactat cctttccaca tagaatactg
     1081 aggacgcttc cccttccttg tttctgctca gcccagatgc acagacacta ttggcaatgt
     1141 tgaccctcct ctgtcatcac agcgccaggg cagctgtgcc tgggacagga gccacacagt
     1201 cagaggggga tgtaagagcc accttctctg acaaatctgg agaattgagt gtgttctaag
     1261 tgaaggcaat ggggtttctc caagacagcc tgtgtggcct ctactctgaa caaatacact
     1321 gatgagtcat cagtgaaatt tgccttcaca ttttaagaaa actttatctt atggagttat
     1381 ttaagccatc tacagagctg aggaaacagt gtaatgtgtc tctgccccat tgcgcagctc
     1441 cacccattgt gccccaggcc agcccgcgtc acctacactt ccttctgtgc cctgccagtg
     1501 acccccaggt tattctaaag cagagtcctt cccttccccc agtgagaagg aaaatgggat
     1561 aagtctggga cactgtttca gttcaataaa gaggcttttt tcttccttaa aaa
//
