LOCUS       NM_001413903            2714 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant
            72, mRNA.
ACCESSION   NM_001413903 XM_017013445
VERSION     NM_001413903.1
KEYWORDS    RefSeq.
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 2714)
  AUTHORS   Chen,Z.X., Jia,W.N., Sun,Y. and Jiang,Y.X.
  TITLE     Genotype-phenotype profile of global ASPH-associated ectopia lentis
            and clinical findings from a Chinese cohort
  JOURNAL   Gene 925, 148600 (2024)
   PUBMED   38788814
  REMARK    GeneRIF: Genotype-phenotype profile of global ASPH-associated
            ectopia lentis and clinical findings from a Chinese cohort.
REFERENCE   2  (bases 1 to 2714)
  AUTHORS   Zou,Y., Lin,J., Liu,J., Zhang,F., Yang,T., Gong,J., Jiang,T.,
            Zuo,J., Song,R., Shen,H., Shen,F. and Li,J.
  TITLE     Aspartate beta-hydroxylase (ASPH) Accelerates Intrahepatic
            Cholangiocarcinoma Metastasis via Upregulating SHH Signaling
            Pathway
  JOURNAL   Curr Protein Pept Sci 24 (5), 436-446 (2023)
   PUBMED   37132101
  REMARK    GeneRIF: Aspartate beta-hydroxylase (ASPH) Accelerates Intrahepatic
            Cholangiocarcinoma Metastasis via Upregulating SHH Signaling
            Pathway.
REFERENCE   3  (bases 1 to 2714)
  AUTHORS   Finotti,A., Treves,S., Zorzato,F., Gambari,R. and Feriotto,G.
  TITLE     Upstream stimulatory factors are involved in the P1 promoter
            directed transcription of the A beta H-J-J locus
  JOURNAL   BMC Mol Biol 9, 110 (2008)
   PUBMED   19087304
  REMARK    GeneRIF: USF1 and USF2 positively regulate the core of P1 promoter
            od AAH.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2714)
  AUTHORS   Treves,S., Franzini-Armstrong,C., Moccagatta,L., Arnoult,C.,
            Grasso,C., Schrum,A., Ducreux,S., Zhu,M.X., Mikoshiba,K.,
            Girard,T., Smida-Rezgui,S., Ronjat,M. and Zorzato,F.
  TITLE     Junctate is a key element in calcium entry induced by activation of
            InsP3 receptors and/or calcium store depletion
  JOURNAL   J Cell Biol 166 (4), 537-548 (2004)
   PUBMED   15302852
  REMARK    GeneRIF: junctate has a role in calcium homeostasis in eukaryotic
            cells
REFERENCE   5  (bases 1 to 2714)
  AUTHORS   Treves,S., Feriotto,G., Moccagatta,L., Gambari,R. and Zorzato,F.
  TITLE     Molecular cloning, expression, functional characterization,
            chromosomal localization, and gene structure of junctate, a novel
            integral calcium binding protein of sarco(endo)plasmic reticulum
            membrane
  JOURNAL   J Biol Chem 275 (50), 39555-39568 (2000)
   PUBMED   11007777
REFERENCE   6  (bases 1 to 2714)
  AUTHORS   Dinchuk,J.E., Henderson,N.L., Burn,T.C., Huber,R., Ho,S.P.,
            Link,J., O'Neil,K.T., Focht,R.J., Scully,M.S., Hollis,J.M.,
            Hollis,G.F. and Friedman,P.A.
  TITLE     Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved
            isoform of Asph missing the catalytic domain share exons with
            junctin
  JOURNAL   J Biol Chem 275 (50), 39543-39554 (2000)
   PUBMED   10956665
REFERENCE   7  (bases 1 to 2714)
  AUTHORS   Wetzel,G.T., Ding,S. and Chen,F.
  TITLE     Molecular cloning of junctin from human and developing rabbit heart
  JOURNAL   Mol Genet Metab 69 (3), 252-258 (2000)
   PUBMED   10767180
REFERENCE   8  (bases 1 to 2714)
  AUTHORS   Zhang,L., Kelley,J., Schmeisser,G., Kobayashi,Y.M. and Jones,L.R.
  TITLE     Complex formation between junctin, triadin, calsequestrin, and the
            ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic
            reticulum membrane
  JOURNAL   J Biol Chem 272 (37), 23389-23397 (1997)
   PUBMED   9287354
REFERENCE   9  (bases 1 to 2714)
  AUTHORS   Lavaissiere,L., Jia,S., Nishiyama,M., de la Monte,S., Stern,A.M.,
            Wands,J.R. and Friedman,P.A.
  TITLE     Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in
            hepatocellular carcinoma and cholangiocarcinoma
  JOURNAL   J Clin Invest 98 (6), 1313-1323 (1996)
   PUBMED   8823296
REFERENCE   10 (bases 1 to 2714)
  AUTHORS   Korioth,F., Gieffers,C. and Frey,J.
  TITLE     Cloning and characterization of the human gene encoding aspartyl
            beta-hydroxylase
  JOURNAL   Gene 150 (2), 395-399 (1994)
   PUBMED   7821814
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067881.5.
            
            On Nov 14, 2022 this sequence version replaced XM_017013445.2.
            
            Summary: This gene is thought to play an important role in calcium
            homeostasis. The gene is expressed from two promoters and undergoes
            extensive alternative splicing. The encoded set of proteins share
            varying amounts of overlap near their N-termini but have
            substantial variations in their C-terminal domains resulting in
            distinct functional properties. The longest isoforms (a and f)
            include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain
            that hydroxylates aspartic acid or asparagine residues in the
            epidermal growth factor (EGF)-like domains of some proteins,
            including protein C, coagulation factors VII, IX, and X, and the
            complement factors C1R and C1S. Other isoforms differ primarily in
            the C-terminal sequence and lack the hydroxylase domain, and some
            have been localized to the endoplasmic and sarcoplasmic reticulum.
            Some of these isoforms are found in complexes with calsequestrin,
            triadin, and the ryanodine receptor, and have been shown to
            regulate calcium release from the sarcoplasmic reticulum. Some
            isoforms have been implicated in metastasis. [provided by RefSeq,
            Sep 2009].
            
            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 :: SRR1803615.96617.1,
                                           SRR1803612.162587.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-139               AC067881.5         127533-127671       c
            140-289             AC067881.5         121899-122048       c
            290-358             AC067881.5         118828-118896       c
            359-451             AC067881.5         91428-91520         c
            452-526             AC067881.5         88910-88984         c
            527-655             AC067881.5         84610-84738         c
            656-688             AC067881.5         82460-82492         c
            689-745             AC067881.5         81805-81861         c
            746-793             AC067881.5         81246-81293         c
            794-826             AC067881.5         80748-80780         c
            827-868             AC067881.5         76182-76223         c
            869-925             AC067881.5         75807-75863         c
            926-970             AC067881.5         71543-71587         c
            971-2714            AC067881.5         62397-64140         c
FEATURES             Location/Qualifiers
     source          1..2714
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     gene            1..2714
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="aspartate beta-hydroxylase"
                     /db_xref="GeneID:444"
                     /db_xref="HGNC:HGNC:757"
                     /db_xref="MIM:600582"
     exon            1..139
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..978
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /EC_number="1.14.11.16"
                     /note="isoform 59 is encoded by transcript variant 72;
                     junctate; peptide-aspartate beta-dioxygenase; humbug;
                     aspartyl/asparaginyl beta-hydroxylase; cardiac junctin; A
                     beta H-J-J; ASP beta-hydroxylase"
                     /codon_start=1
                     /product="aspartyl/asparaginyl beta-hydroxylase isoform
                     59"
                     /protein_id="NP_001400832.1"
                     /db_xref="GeneID:444"
                     /db_xref="HGNC:HGNC:757"
                     /db_xref="MIM:600582"
                     /translation="MAEDKETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSVAVV
                     WFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVPPEEAEPHTEPE
                     EQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQQEDDEFLMA
                     TDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSEPVVEDER
                     LHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSIFPVEE
                     QQEVPPDT"
     exon            140..289
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            290..358
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            359..451
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            452..526
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            527..655
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            656..688
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            689..745
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            746..793
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            794..826
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            827..868
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            869..925
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            926..970
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            971..2714
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2677..2682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: ATTAAA"
     regulatory      2693..2698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: AATAAA"
     polyA_site      2703
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="major polyA site"
     polyA_site      2714
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="major polyA site"
ORIGIN      
        1 agtctcaagc tctggtaggc aagtgcatgc agtgtgccta aaacctgcca gcagtacttt
       61 tgagtttttt tttttgtttt gttttacttt agcatttatt attcatggat tgaagaaatc
      121 aaaatggctg aagataaaga gacaaagcat ggaggacaca agaatgggag gaaaggcgga
      181 ctctcaggaa cttcattctt cacgtggttt atggtgattg cattgctggg cgtctggaca
      241 tctgtagctg tcgtttggtt tgatcttgtt gactatgagg aagttctagg aaaactagga
      301 atctatgatg ctgatggtga tggagatttt gatgtggatg atgccaaagt tttattagga
      361 cttaaagaga gatctacttc agagccagca gtcccgccag aagaggctga gccacacact
      421 gagcccgagg agcaggttcc tgtggaggca gaaccccaga atatcgaaga tgaagcaaaa
      481 gaacaaattc agtcccttct ccatgaaatg gtacacgcag aacatgttga gggagaagac
      541 ttgcaacaag aagatggacc cacaggagaa ccacaacaag aggatgatga gtttcttatg
      601 gcgactgatg tagatgatag atttgagacc ctggaacctg aagtatctca tgaagaaacc
      661 gagcatagtt accacgtgga agagacagtt tcacaagact gtaatcagga tatggaagag
      721 atgatgtctg agcaggaaaa tccagattcc agtgaaccag tagtagaaga tgaaagattg
      781 caccatgata cagatgatgt aacataccaa gtctatgagg aacaagcagt atatgaacct
      841 ctagaaaatg aagggataga aatcacagaa gtaactgctc cccctgagga taatcctgta
      901 gaagattcac aggtaattgt agaagaagta agcatttttc ctgtggaaga acagcaggaa
      961 gtaccaccag atacttaaag cttcaaaaag actgccccta ccaccacagg aggaccagcc
     1021 taaccatacg ctccaaaaga tggctgtgat agatcttgtg aagcaattac tgagcagatc
     1081 aagatctttg ggaaggaaca ctaaagatgt tttgaatgaa ttatagtcca ctggcatttt
     1141 agtgtatttt tttttctttt tagaaacaca catttctaaa aatgtcatgt tacattcctg
     1201 catgtccctt ttgatagcat tagtggatcc attggatttc ttttttcttt ttgtgagaca
     1261 gcttttagtc ttacctgaat ttatgtgtgt ttttccgaca gtggttaata attatattgg
     1321 tgatgtagca gcaattgtgt tggcagggtt ttcatatatt attagtaatt aacactaact
     1381 gttggactga cttgtgtaca ctgtgttaaa catgatttaa aagctattaa gagtactttg
     1441 tgttagcact cttaaaaacg ctaacagaga tcatcattag ctgtgaagat ttgagttgta
     1501 tatacctgca ctgatattct tatcaaaaat ttctacatta gctttaagtg ttcagattaa
     1561 cacttttgaa atttttgtag cttttagctg attaattaga aaaatttaat atttcagtga
     1621 aagttttaaa ttatcattta tttatttttt taaatgagag gggaaagctg aaattccttg
     1681 ttaagacaca aggaaaaaga atggccctac tattatcatg caaaaatgct ttgttggcac
     1741 ctcagattaa tcatataata gctatagtct cttcagcatt tgtttaaatt ttagaaaacc
     1801 tgtataaatt actggtgcat aacttaaaga ttattctgcc tttggctaat tgagtaattc
     1861 ccctccagca ctagagaccg ctcagtgctc ttactagatg aactcagtaa cgccttgagc
     1921 tgggttgatt gaggatgtgt gaaaagctca cagagcccga tgcctgctgc tatttcacgg
     1981 caatgagcct ttttctttct acactgaaga ttttcttctt atttaatgtg gtttattttg
     2041 ggctcagaaa taattgctct gttgaaaata atcctttgtc agaaaagaag gtagctacca
     2101 catcattttg aaaggaccat gagcaactat aagcaaagcc ataagaagtg gtttgatcga
     2161 tatattaggg gtagctcttg attttgttaa cattaagata aggtgacttt ttccccctgc
     2221 ttttaggatt aaaatcaaag atacttctat atttttatca ctatagatca tagttattat
     2281 acaatgtagt gagtcctgca tgggtactcg atgtgtaatg aaacctgaaa taataagata
     2341 ataagaaaag caataatttt ctaaagctgt gctgtcggtg atacagagat gatactcaaa
     2401 ttataataaa actcttcatt ttgtgaatta tagaagctac tttttataaa gccatatttt
     2461 tttagggaaa ctaaggagtg acatagaact gatgaatgag taaaagtaag ttttgctgga
     2521 tttttgtaga actctggacg ttgaggattc attatgctgt ggttaacttt aaatattttt
     2581 gaattccaaa tatctgaatt aatgagcctt gtctttacaa atatgtgcca ttgtgcaaca
     2641 tcggtggatt ttctaaaaat aatgtaaatg tcttctatta aatgttgagt gcaataaaat
     2701 acagaagaat tctc
//
