LOCUS       NM_001164752            3523 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant
            8, mRNA.
ACCESSION   NM_001164752
VERSION     NM_001164752.2
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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 3523)
  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 DN993915.1, BC144363.1,
            AC067881.5 and BU623111.1.
            
            On May 31, 2019 this sequence version replaced NM_001164752.1.
            
            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].
            
            Transcript Variant: This variant (8) represents use of an alternate
            promoter and 5' UTR and uses a distinct start codon, uses a
            distinct 3' splice pattern that lacks many coding exons, includes
            an alternate in-frame exon, lacks an alternate in-frame exon, and
            uses an alternate in-frame splice site, compared to variant 1. The
            resulting isoform (h) has a shorter and distinct N-terminus a
            substantially shorter and distinct C-terminus, and several internal
            differences, compared to isoform a. This isoform is similar to
            isoform b, which is also known as junctate.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC144363.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-90                DN993915.1         47-136
            91-1591             BC144363.1         60-1560
            1592-3064           AC067881.5         62032-63504         c
            3065-3523           BU623111.1         22-480              c
FEATURES             Location/Qualifiers
     source          1..3523
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     gene            1..3523
                     /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..963
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /EC_number="1.14.11.16"
                     /note="isoform 8 is encoded by transcript variant 8;
                     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 8"
                     /protein_id="NP_001158224.1"
                     /db_xref="GeneID:444"
                     /db_xref="HGNC:HGNC:757"
                     /db_xref="MIM:600582"
                     /translation="MAEDKETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSVAVV
                     WFDLVDYEEVLAKAKDFRYNLSEVLQGKLGIYDADGDGDFDVDDAKVLLGLKERSTSE
                     PAVPPEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDG
                     PTGEPQQEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETDSSEPVVEDERLHHD
                     TDDVTYQVYEEQVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSIFPVEEQQEVP
                     PDT"
     exon            140..289
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            290..334
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            335..403
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            404..496
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            497..571
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            572..700
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            701..733
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            734..781
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            782..814
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            815..853
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            854..910
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            911..955
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            956..3523
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2662..2667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: ATTAAA"
     regulatory      2678..2683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: AATAAA"
     polyA_site      2688
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="major polyA site"
     polyA_site      2699
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="major polyA site"
     regulatory      3502..3507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: AATAAA"
     polyA_site      3523
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
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 aagttctagc caaagcaaag
      301 gacttccgtt ataacttatc agaggtgctt caaggaaaac taggaatcta tgatgctgat
      361 ggtgatggag attttgatgt ggatgatgcc aaagttttat taggacttaa agagagatct
      421 acttcagagc cagcagtccc gccagaagag gctgagccac acactgagcc cgaggagcag
      481 gttcctgtgg aggcagaacc ccagaatatc gaagatgaag caaaagaaca aattcagtcc
      541 cttctccatg aaatggtaca cgcagaacat gttgagggag aagacttgca acaagaagat
      601 ggacccacag gagaaccaca acaagaggat gatgagtttc ttatggcgac tgatgtagat
      661 gatagatttg agaccctgga acctgaagta tctcatgaag aaaccgagca tagttaccac
      721 gtggaagaga cagattccag tgaaccagta gtagaagatg aaagattgca ccatgataca
      781 gatgatgtaa cataccaagt ctatgaggaa caagtatatg aacctctaga aaatgaaggg
      841 atagaaatca cagaagtaac tgctccccct gaggataatc ctgtagaaga ttcacaggta
      901 attgtagaag aagtaagcat ttttcctgtg gaagaacagc aggaagtacc accagatact
      961 taaagcttca aaaagactgc ccctaccacc acaggaggac cagcctaacc atacgctcca
     1021 aaagatggct gtgatagatc ttgtgaagca attactgagc agatcaagat ctttgggaag
     1081 gaacactaaa gatgttttga atgaattata gtccactggc attttagtgt attttttttt
     1141 ctttttagaa acacacattt ctaaaaatgt catgttacat tcctgcatgt cccttttgat
     1201 agcattagtg gatccattgg atttcttttt tctttttgtg agacagcttt tagtcttacc
     1261 tgaatttatg tgtgtttttc cgacagtggt taataattat attggtgatg tagcagcaat
     1321 tgtgttggca gggttttcat atattattag taattaacac taactgttgg actgacttgt
     1381 gtacactgtg ttaaacatga tttaaaagct attaagagta ctttgtgtta gcactcttaa
     1441 aaacgctaac agagatcatc attagctgtg aagatttgag ttgtatatac ctgcactgat
     1501 attcttatca aaaatttcta cattagcttt aagtgttcag attaacactt ttgaaatttt
     1561 tgtagctttt agctgattaa ttagaaaaat ttaatatttc agtgaaagtt ttaaattatc
     1621 atttatttat ttttttaaat gagaggggaa agctgaaatt ccttgttaag acacaaggaa
     1681 aaagaatggc cctactatta tcatgcaaaa atgctttgtt ggcacctcag attaatcata
     1741 taatagctat agtctcttca gcatttgttt aaattttaga aaacctgtat aaattactgg
     1801 tgcataactt aaagattatt ctgcctttgg ctaattgagt aattcccctc cagcactaga
     1861 gaccgctcag tgctcttact agatgaactc agtaacgcct tgagctgggt tgattgagga
     1921 tgtgtgaaaa gctcacagag cccgatgcct gctgctattt cacggcaatg agcctttttc
     1981 tttctacact gaagattttc ttcttattta atgtggttta ttttgggctc agaaataatt
     2041 gctctgttga aaataatcct ttgtcagaaa agaaggtagc taccacatca ttttgaaagg
     2101 accatgagca actataagca aagccataag aagtggtttg atcgatatat taggggtagc
     2161 tcttgatttt gttaacatta agataaggtg actttttccc cctgctttta ggattaaaat
     2221 caaagatact tctatatttt tatcactata gatcatagtt attatacaat gtagtgagtc
     2281 ctgcatgggt actcgatgtg taatgaaacc tgaaataata agataataag aaaagcaata
     2341 attttctaaa gctgtgctgt cggtgataca gagatgatac tcaaattata ataaaactct
     2401 tcattttgtg aattatagaa gctacttttt ataaagccat atttttttag ggaaactaag
     2461 gagtgacata gaactgatga atgagtaaaa gtaagttttg ctggattttt gtagaactct
     2521 ggacgttgag gattcattat gctgtggtta actttaaata tttttgaatt ccaaatatct
     2581 gaattaatga gccttgtctt tacaaatatg tgccattgtg caacatcggt ggattttcta
     2641 aaaataatgt aaatgtcttc tattaaatgt tgagtgcaat aaaatacaga agaattctct
     2701 atattgtcat tatttttgaa gtataaggta tttttaattt gttacataat aaaatcagtt
     2761 cattttatcc ttactagtat tttagaagat tatagcattt ttgataacta aaatcacaaa
     2821 ggaatacctt cagccagtta acgtatttct aacagataat gcttattttg catttactat
     2881 catgctacat tgccaggaag caagattaaa attaaatagc ccctgcagcc atcctttgta
     2941 gattttgtcc tgcacctaga agttttgatt attccctgga cagcctgctc cacctttttt
     3001 ccccaaattt ttaatttttg tgagtatata atagatgtat aaatttgact atatgagata
     3061 tttcgataca gatatagaaa atgtacaata aattattgtt ggctatagta actctgtttt
     3121 gctatcaaat actagatctt attcattgta tataactata tttttgtacc cattaaccat
     3181 cttcacctcc tgctcccctc tcccctcact acccttccca acctctggta accatccttc
     3241 taccctctac ctctgtgagt tcaattgttt taatttttag cacccacaaa ttagtgagaa
     3301 catgtgatgt ttatctttct gtgcctggct tatttcacct aacataatga cctccagttc
     3361 catccatgtt gtttcaaatg gcaggatctt attctttttt atggctgagt agtactccat
     3421 tatatatgta ccacattttc ttcattcgtc tgttgacaga cccttaagtt gattccaaag
     3481 cttagctatt gtaaatagtg caataaacat gagagtgcgt aaa
//
