LOCUS       NM_181718               1816 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens aspartate beta-hydroxylase domain containing 1
            (ASPHD1), mRNA.
ACCESSION   NM_181718
VERSION     NM_181718.4
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 1816)
  AUTHORS   Perry,J.R., Day,F., Elks,C.E., Sulem,P., Thompson,D.J.,
            Ferreira,T., He,C., Chasman,D.I., Esko,T., Thorleifsson,G.,
            Albrecht,E., Ang,W.Q., Corre,T., Cousminer,D.L., Feenstra,B.,
            Franceschini,N., Ganna,A., Johnson,A.D., Kjellqvist,S.,
            Lunetta,K.L., McMahon,G., Nolte,I.M., Paternoster,L., Porcu,E.,
            Smith,A.V., Stolk,L., Teumer,A., Tsernikova,N., Tikkanen,E.,
            Ulivi,S., Wagner,E.K., Amin,N., Bierut,L.J., Byrne,E.M.,
            Hottenga,J.J., Koller,D.L., Mangino,M., Pers,T.H.,
            Yerges-Armstrong,L.M., Zhao,J.H., Andrulis,I.L., Anton-Culver,H.,
            Atsma,F., Bandinelli,S., Beckmann,M.W., Benitez,J., Blomqvist,C.,
            Bojesen,S.E., Bolla,M.K., Bonanni,B., Brauch,H., Brenner,H.,
            Buring,J.E., Chang-Claude,J., Chanock,S., Chen,J.,
            Chenevix-Trench,G., Collee,J.M., Couch,F.J., Couper,D.,
            Coveillo,A.D., Cox,A., Czene,K., D'adamo,A.P., Smith,G.D., De
            Vivo,I., Demerath,E.W., Dennis,J., Devilee,P., Dieffenbach,A.K.,
            Dunning,A.M., Eiriksdottir,G., Eriksson,J.G., Fasching,P.A.,
            Ferrucci,L., Flesch-Janys,D., Flyger,H., Foroud,T., Franke,L.,
            Garcia,M.E., Garcia-Closas,M., Geller,F., de Geus,E.E., Giles,G.G.,
            Gudbjartsson,D.F., Gudnason,V., Guenel,P., Guo,S., Hall,P.,
            Hamann,U., Haring,R., Hartman,C.A., Heath,A.C., Hofman,A.,
            Hooning,M.J., Hopper,J.L., Hu,F.B., Hunter,D.J., Karasik,D.,
            Kiel,D.P., Knight,J.A., Kosma,V.M., Kutalik,Z., Lai,S.,
            Lambrechts,D., Lindblom,A., Magi,R., Magnusson,P.K., Mannermaa,A.,
            Martin,N.G., Masson,G., McArdle,P.F., McArdle,W.L., Melbye,M.,
            Michailidou,K., Mihailov,E., Milani,L., Milne,R.L., Nevanlinna,H.,
            Neven,P., Nohr,E.A., Oldehinkel,A.J., Oostra,B.A., Palotie,A.,
            Peacock,M., Pedersen,N.L., Peterlongo,P., Peto,J., Pharoah,P.D.,
            Postma,D.S., Pouta,A., Pylkas,K., Radice,P., Ring,S.,
            Rivadeneira,F., Robino,A., Rose,L.M., Rudolph,A., Salomaa,V.,
            Sanna,S., Schlessinger,D., Schmidt,M.K., Southey,M.C., Sovio,U.,
            Stampfer,M.J., Stockl,D., Storniolo,A.M., Timpson,N.J., Tyrer,J.,
            Visser,J.A., Vollenweider,P., Volzke,H., Waeber,G.,
            Waldenberger,M., Wallaschofski,H., Wang,Q., Willemsen,G.,
            Winqvist,R., Wolffenbuttel,B.H., Wright,M.J., Boomsma,D.I.,
            Econs,M.J., Khaw,K.T., Loos,R.J., McCarthy,M.I., Montgomery,G.W.,
            Rice,J.P., Streeten,E.A., Thorsteinsdottir,U., van Duijn,C.M.,
            Alizadeh,B.Z., Bergmann,S., Boerwinkle,E., Boyd,H.A., Crisponi,L.,
            Gasparini,P., Gieger,C., Harris,T.B., Ingelsson,E., Jarvelin,M.R.,
            Kraft,P., Lawlor,D., Metspalu,A., Pennell,C.E., Ridker,P.M.,
            Snieder,H., Sorensen,T.I., Spector,T.D., Strachan,D.P.,
            Uitterlinden,A.G., Wareham,N.J., Widen,E., Zygmunt,M., Murray,A.,
            Easton,D.F., Stefansson,K., Murabito,J.M. and Ong,K.K.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   2  (bases 1 to 1816)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC120114.2, BU193236.1 and BC009033.1.
            
            On Nov 22, 2018 this sequence version replaced NM_181718.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.742306.1,
                                           SRR3476690.686778.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308748.10/ ENSP00000311447.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-338               AC120114.2         78559-78896
            339-611             BU193236.1         1-273
            612-1816            BC009033.1         1-1205
FEATURES             Location/Qualifiers
     source          1..1816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1816
                     /gene="ASPHD1"
                     /note="aspartate beta-hydroxylase domain containing 1"
                     /db_xref="GeneID:253982"
                     /db_xref="HGNC:HGNC:27380"
     exon            1..1433
                     /gene="ASPHD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             485..1657
                     /gene="ASPHD1"
                     /codon_start=1
                     /product="aspartate beta-hydroxylase domain-containing
                     protein 1"
                     /protein_id="NP_859069.2"
                     /db_xref="CCDS:CCDS10660.1"
                     /db_xref="GeneID:253982"
                     /db_xref="HGNC:HGNC:27380"
                     /translation="MKEGRGSFSVERGPRKERETAQSGMWKGNSPAGSQGAAMEGTGG
                     ELGGQGNWGPEDAPGLLARASLIMLPWPLPLASSALTLLFGALTSLFLWYCYRLGSQD
                     MQALGAGSRAGGVRGGPVGCSEAGGPSPGGPGDPGEGPRTEGLVSRRLRAYARRYSWA
                     GMGRVRRAAQGGPGPGRGPGVLGIQRPGLLFLPDLPSAPFVPRDAQRHDVELLESSFP
                     AILRDFGAVSWDFSGTTPPPRGWSPPLAPGCYQLLLYQAGRCQPSNCRRCPGAYRALR
                     GLRSFMSANTFGNAGFSVLLPGARLEGRCGPTNARVRCHLGLKIPPGCELVVGGEPQC
                     WAEGHCLLVDDSFLHTVAHNGSPEDGPRVVFIVDLWHPNVAGAERQALDFVFAPDP"
     exon            1434..1547
                     /gene="ASPHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1816
                     /gene="ASPHD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1793..1798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPHD1"
                     /note="hexamer: TATAAA"
     polyA_site      1816
                     /gene="ASPHD1"
                     /note="major polyA site"
ORIGIN      
        1 acccggctga tttgctgtgc cactgggagg gttcgggggt ggctgagctg agagggctcc
       61 gggaaggagt gacgtcaggg tgagtgggag cccaggaagg agcgagtagg agagagggag
      121 cgagagccag gcaggaccgc agggtcgggg ctagtgagga gcgagggcaa ggagagagca
      181 gtgaggccgg agagaaagaa gctgccgcgg aggaagacag gctgcgggtt cccgggactg
      241 caggtccagg cagggtagga accgctgccc aggggagcta ggaggaagcg gggagagaga
      301 gcgagcgaaa agcgggggtg gggaggaaag ggggagattg aggtgggaga gagaagcaga
      361 gcgagagaga ggaggctgct ggaaggagaa agaagagggt gaggaggcga cagagggaga
      421 ggaggaagaa gaggtagaag gagagagaaa ggggagagaa aggagagagg agggttggag
      481 gtgcatgaag gaggggagag ggagcttcag cgtggagaga ggaccgcgga aggagagaga
      541 gacagcccag agtggaatgt ggaagggaaa cagtccagcg gggagccagg gggcagccat
      601 ggaagggaca ggtggggagc tggggggaca ggggaactgg ggtccggagg acgccccagg
      661 cctcttggcc agggcctccc tgatcatgct cccgtggcca ctacccctgg cctcctcggc
      721 cctcaccttg ctcttcgggg ccctcacttc cctgttcctc tggtactgct accgcctggg
      781 ctcccaagac atgcaggccc taggggctgg gagccgagct gggggtgttc gtggtgggcc
      841 tgtgggatgc tcggaggccg gcgggccaag cccagggggt cctggggatc ccggggaagg
      901 acctaggacg gaaggcctag tgagccggcg gcttcgggcc tacgcaaggc gctactcctg
      961 ggctgggatg ggtagagtga ggcgggcagc tcagggtggc ccaggccctg ggagagggcc
     1021 aggggtccta ggtattcagc gcccaggcct gcttttccta ccagacctgc cttcagcccc
     1081 ctttgtgccg cgggacgccc agcggcacga cgtggagctc ctggagagca gcttccctgc
     1141 cattttgcgg gacttcgggg ctgtgagctg ggacttctca gggactaccc ctccgcctcg
     1201 gggctggtcc ccacctctgg cccccgggtg ctaccagctc ctgctgtacc aagcaggccg
     1261 gtgccaaccc agcaactgcc gccggtgccc gggggcctat cgggcactga gggggcttcg
     1321 aagctttatg agtgccaaca ccttcggcaa tgccggcttt tccgttctcc tgcctggggc
     1381 ccggctcgag ggccgctgtg ggcccaccaa tgcccgggtc agatgccatc tgggcctaaa
     1441 gatccctcct ggctgtgagc tggtggtcgg cggtgagccc cagtgctggg ctgaggggca
     1501 ctgtctactg gtggacgact cttttctaca cacagtggct cacaatggct cccccgaaga
     1561 tgggcctcga gtggtcttca tcgtggacct ctggcacccc aacgtggcag gggctgagcg
     1621 ccaggccctc gactttgtct tcgccccaga cccttgaagg aaggtgctcc cttcacacac
     1681 ccaggctgga gagacactgc gctcagggac ggcttgatgg tagccaggac ctcctctcta
     1741 ctgcgggggt gggcgggggc ggaggatggg aactggctag tgagcactga aatataaatt
     1801 ctgaatcctc tcctaa
//
