LOCUS       NM_003888               3386 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member A2 (ALDH1A2),
            transcript variant 1, mRNA.
ACCESSION   NM_003888
VERSION     NM_003888.4
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 3386)
  AUTHORS   Dai,J., Jiang,H., Yang,Z., Chen,C. and Tang,X.
  TITLE     A functional variant of ALDH1A2 is associated with hand
            osteoarthritis in the Chinese population
  JOURNAL   Int J Immunogenet 51 (3), 157-163 (2024)
   PUBMED   38441233
  REMARK    GeneRIF: A functional variant of ALDH1A2 is associated with hand
            osteoarthritis in the Chinese population.
REFERENCE   2  (bases 1 to 3386)
  AUTHORS   Leon,E., Nde,C., Ray,R.S., Preciado,D. and Zohn,I.E.
  TITLE     ALDH1A2-related disorder: A new genetic syndrome due to alteration
            of the retinoic acid pathway
  JOURNAL   Am J Med Genet A 191 (1), 90-99 (2023)
   PUBMED   36263470
  REMARK    GeneRIF: ALDH1A2-related disorder: A new genetic syndrome due to
            alteration of the retinoic acid pathway.
REFERENCE   3  (bases 1 to 3386)
  AUTHORS   Zhang,D., Li,Q., Zhang,D., Yang,X., Wang,C., Zhang,R., Yang,X.,
            Li,Z. and Xiong,Y.
  TITLE     An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease
            in Chinese population
  JOURNAL   J Bone Miner Metab 40 (2), 317-326 (2022)
   PUBMED   35059888
  REMARK    GeneRIF: An eQTL variant of ALDH1A2 is associated with Kashin-Beck
            disease in Chinese population.
REFERENCE   4  (bases 1 to 3386)
  AUTHORS   Sanders,S., Herpai,D.M., Rodriguez,A., Huang,Y., Chou,J., Hsu,F.C.,
            Seals,D., Mott,R., Miller,L.D. and Debinski,W.
  TITLE     The Presence and Potential Role of ALDH1A2 in the Glioblastoma
            Microenvironment
  JOURNAL   Cells 10 (9), 2485 (2021)
   PUBMED   34572134
  REMARK    GeneRIF: The Presence and Potential Role of ALDH1A2 in the
            Glioblastoma Microenvironment.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3386)
  AUTHORS   Beecroft,S.J., Ayala,M., McGillivray,G., Nanda,V., Agolini,E.,
            Novelli,A., Digilio,M.C., Dotta,A., Carrozzo,R., Clayton,J.,
            Gaffney,L., McLean,C.A., Ng,J., Laing,N.G., Matteson,P.,
            Millonig,J. and Ravenscroft,G.
  TITLE     Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal
            human multiple congenital anomaly syndrome encompassing
            diaphragmatic, pulmonary, and cardiovascular defects
  JOURNAL   Hum Mutat 42 (5), 506-519 (2021)
   PUBMED   33565183
REFERENCE   6  (bases 1 to 3386)
  AUTHORS   Kim,H., Lapointe,J., Kaygusuz,G., Ong,D.E., Li,C., van de Rijn,M.,
            Brooks,J.D. and Pollack,J.R.
  TITLE     The retinoic acid synthesis gene ALDH1a2 is a candidate tumor
            suppressor in prostate cancer
  JOURNAL   Cancer Res 65 (18), 8118-8124 (2005)
   PUBMED   16166285
REFERENCE   7  (bases 1 to 3386)
  AUTHORS   Anderson,N.L., Polanski,M., Pieper,R., Gatlin,T., Tirumalai,R.S.,
            Conrads,T.P., Veenstra,T.D., Adkins,J.N., Pounds,J.G., Fagan,R. and
            Lobley,A.
  TITLE     The human plasma proteome: a nonredundant list developed by
            combination of four separate sources
  JOURNAL   Mol Cell Proteomics 3 (4), 311-326 (2004)
   PUBMED   14718574
REFERENCE   8  (bases 1 to 3386)
  AUTHORS   Niederreither,K., Abu-Abed,S., Schuhbaur,B., Petkovich,M.,
            Chambon,P. and Dolle,P.
  TITLE     Genetic evidence that oxidative derivatives of retinoic acid are
            not involved in retinoid signaling during mouse development
  JOURNAL   Nat Genet 31 (1), 84-88 (2002)
   PUBMED   11953746
REFERENCE   9  (bases 1 to 3386)
  AUTHORS   Niederreither,K., Subbarayan,V., Dolle,P. and Chambon,P.
  TITLE     Embryonic retinoic acid synthesis is essential for early mouse
            post-implantation development
  JOURNAL   Nat Genet 21 (4), 444-448 (1999)
   PUBMED   10192400
REFERENCE   10 (bases 1 to 3386)
  AUTHORS   Ono,Y., Fukuhara,N. and Yoshie,O.
  TITLE     TAL1 and LIM-only proteins synergistically induce retinaldehyde
            dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia
            by acting as cofactors for GATA3
  JOURNAL   Mol Cell Biol 18 (12), 6939-6950 (1998)
   PUBMED   9819382
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB458699.1, AB015226.1,
            BC030589.2 and AA447978.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003888.3.
            
            Summary: This protein belongs to the aldehyde dehydrogenase family
            of proteins. The product of this gene is an enzyme that catalyzes
            the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic
            acid, the active derivative of vitamin A (retinol), is a hormonal
            signaling molecule that functions in developing and adult tissues.
            The studies of a similar mouse gene suggest that this enzyme and
            the cytochrome CYP26A1, concurrently establish local embryonic
            retinoic acid levels which facilitate posterior organ development
            and prevent spina bifida. Four transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AK128709.1, SRR14038194.4124852.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000249750.9/ ENSP00000249750.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DB458699.1         214-231
            19-1102             AB015226.1         1-1084
            1103-3384           BC030589.2         959-3240
            3385-3386           AA447978.1         9-10                c
FEATURES             Location/Qualifiers
     source          1..3386
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..3386
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /note="aldehyde dehydrogenase 1 family member A2"
                     /db_xref="GeneID:8854"
                     /db_xref="HGNC:HGNC:15472"
                     /db_xref="MIM:603687"
     exon            1..178
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1618
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /EC_number="1.2.1.36"
                     /note="isoform 1 is encoded by transcript variant 1;
                     retinaldehyde-specific dehydrogenase type 2; retinal
                     dehydrogenase 2; RALDH 2"
                     /codon_start=1
                     /product="retinal dehydrogenase 2 isoform 1"
                     /protein_id="NP_003879.2"
                     /db_xref="CCDS:CCDS10163.1"
                     /db_xref="GeneID:8854"
                     /db_xref="HGNC:HGNC:15472"
                     /db_xref="MIM:603687"
                     /translation="MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINN
                     EWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASER
                     GRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGM
                     TIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLS
                     ALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAG
                     RSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYE
                     EFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGL
                     GRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVF
                     TNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKT
                     VTVKIPQKNS"
     exon            179..283
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            284..424
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            425..554
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            555..616
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            617..745
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            746..859
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            860..962
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1147
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1312
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1470
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1545
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..3386
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3365..3370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /note="hexamer: AATAAA"
     polyA_site      3386
                     /gene="ALDH1A2"
                     /gene_synonym="DIH4; RALDH(II); RALDH2; RALDH2-T"
                     /note="major polyA site"
ORIGIN      
        1 ggaccgcgcg cacagcccgc actgccccac gccgcgggct agggacaccc ggcccgccac
       61 catgacttcc agcaagatag agatgcccgg cgaggtgaag gccgaccccg ccgccctcat
      121 ggcgtcgctg cacctcctgc cgtcgcccac gcccaatctc gaaattaagt acaccaagat
      181 ctttataaac aacgagtggc agaactcaga gagtgggaga gtgttccctg tctataatcc
      241 agccacagga gaacaggtgt gtgaagttca agaagcagac aaggcagata tagacaaagc
      301 agtgcaggca gcccgcctgg ctttctctct tggttcagtg tggagaagga tggatgcttc
      361 agaaagggga cgtctgttgg ataagcttgc agacttggtg gaacgggaca gggcagttct
      421 tgcaaccatg gaatccctaa atggtggcaa accattcctg caagcttttt atgtggattt
      481 gcagggcgtc atcaaaacct ttcgatatta cgcaggctgg gctgataaaa ttcatgggat
      541 gaccattcct gtagatggag actattttac ctttacaaga catgaaccca ttggagtgtg
      601 tggacagatc atcccatgga acttccccct gctgatgttt gcctggaaaa tagctccagc
      661 tttgtgctgt ggcaatacag tagttattaa gccagcagag caaacaccac tcagtgcact
      721 ctacatggga gccctcatca aggaggctgg ctttcctccc ggggtcatca atattttgcc
      781 aggatatggg ccaacggctg gggcagcaat agcttctcac attggcatag acaagattgc
      841 attcacaggg tctactgagg ttggaaagct tatccaagaa gcagctggaa gaagtaattt
      901 gaagagagta actctggaac ttggaggcaa aagtcctaat attatttttg ctgatgctga
      961 cttggactat gctgtggagc aggcccacca gggtgtgttc ttcaatcaag gtcagtgctg
     1021 cactgcaggc tctcgcatct tcgtggagga gtccatctat gaggagtttg tgagaagaag
     1081 cgtggagcgg gccaagaggc gcgtagtggg gagtcccttt gaccccacca ctgagcaggg
     1141 tccccagatt gataagaaac agtacaacaa gatcttggaa ctcatccaga gtggtgtggc
     1201 tgagggcgcc aagctggaat gtggaggcaa aggactgggc cgaaaggggt ttttcattga
     1261 gcccacagtg ttttccaacg tcactgatga tatgcggatt gccaaggagg agatctttgg
     1321 ccctgttcag gaaattttga gatttaagac gatggatgaa gttatcgaaa gagccaataa
     1381 ctcagacttt ggactcgtag cagctgtctt tactaatgac atcaacaagg ccctcacagt
     1441 gtcttctgca atgcaagctg ggactgtttg gatcaattgt tacaatgcct taaatgccca
     1501 gagccccttt gggggattca agatgtctgg aaatgggaga gaaatgggag aatttggctt
     1561 gcgggagtac tcagaagtta agacggtgac agtaaagatc ccccagaaga actcctaaga
     1621 aggccaagaa ggaggatgaa gcccagcctg cacgtctgtc cctctctgct ttctctgtag
     1681 ggcccagctc tcaggaatac aaagttgagc cacggtcctt acttaaagat tgaaaagata
     1741 acatgtaggc caggcaggtc actgcacaac taaagcaaac cagctgggta cagtttcttg
     1801 gcactctgta aggggccacc ttaatcatac caaatattgg ggaaagtggg ataaagggag
     1861 gaggaggagc tagcagacac atccagtatc tccttctgga gcacaggatg aaataaggga
     1921 gctgtattat ttcatgtctt tgtcacaaag aactttcctc tcaaggaaag gtgacctttc
     1981 tcctgtcttc attttcctcc ttccaggccc tcctcgctca cccacccctc cctctcttcc
     2041 aaggagatgt cagctgagct cattctgggg cagatgtttg ggccgggaac aatttttcaa
     2101 ggttgtaaag ccaaattatc atttcatgtt atccatttct tcaaagcaaa acatgaaatg
     2161 gttttagcta gagtcagacc agaatgaaaa tgccaggagc tggtacacta cagatgtagt
     2221 aagaacctgg gatattcctg acccaatctg gttttctttt acccataaat aacatgaatg
     2281 aaaaaagatt gggacaatag agactggaag tcatcatgtg cagttcaccg cttctgagct
     2341 tgctgcagtt ttggggtgtg tgtgtattag attccttctc agttattctg gaataaggca
     2401 aggagtgggt tgtttttcat agctagataa gatcttttcc aaagtttttc ttagaaccaa
     2461 ccaaaaaaca atccgagtag gcccaagaat ttgataatgc tggatgcctt gcagacatca
     2521 ttcagtttct aatattgggc aacaattatt attaaatgaa ttatttctgt agttggaatc
     2581 tgtaccttct gaacctctac accaataact gctgcaggtg tgattttggt ctgtcacact
     2641 gtacatctat cataatgtgc cctgtatcta ttggcagtga ccttggaaaa tctggccaag
     2701 cctaggggtt tccttttcca tttgccaagt tccattgtgc caggactgcc gtgctccact
     2761 gagctcctct gtcacacccc attcttgccc ctcactgggc aggccatggc ctacagcttg
     2821 cagggagtaa agcaggcccg cctccctttc ttcccatcca catactcctc ttctgctttc
     2881 cagtgactcc accagtttga tgtgggaagt gttagcttcc tttccttctt ccatcccttc
     2941 ttccatcttt ccagctgtca aatccaatcc agtctctaac ctaaatgcag atcatttatt
     3001 taaaagtacc aaacataacc cagagtatgt ggaatatggg caacatatat atagccttct
     3061 gtatttaacg atcttctgct tcttaaccgt accagttttc tatttataac tcttatctat
     3121 ccatgatgtt ttaaagtctc cacttgctgt tatttacaaa cgacagtgca ttcagcagcc
     3181 cagtgccgtg agccctgaca gatgccgtat ttctgagtgc ttccatgtga atgctgccct
     3241 cctgtagcat gtgtccaagt ggacatagcc actaaccaac tagttacctt tggactgcaa
     3301 caaaaaatgt gaaaatgaag atttatttct tttaatttac ttaaaaagaa acctctgtgc
     3361 tagcaataaa gcatttatat tgtgta
//
