LOCUS       NM_001413908            2528 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant
            77, mRNA.
ACCESSION   NM_001413908
VERSION     NM_001413908.1
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 2528)
  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 2528)
  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 2528)
  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 2528)
  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 2528)
  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 2528)
  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 2528)
  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 2528)
  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 2528)
  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 2528)
  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.
            
            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 :: SRR1803612.45932.1,
                                           SRR1660805.45324.1 [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
            527-559             AC067881.5         82460-82492         c
            560-607             AC067881.5         81246-81293         c
            608-640             AC067881.5         80748-80780         c
            641-682             AC067881.5         76182-76223         c
            683-739             AC067881.5         75807-75863         c
            740-784             AC067881.5         71543-71587         c
            785-2528            AC067881.5         62397-64140         c
FEATURES             Location/Qualifiers
     source          1..2528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     gene            1..2528
                     /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..792
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /EC_number="1.14.11.16"
                     /note="isoform 64 is encoded by transcript variant 77;
                     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
                     64"
                     /protein_id="NP_001400837.1"
                     /db_xref="GeneID:444"
                     /db_xref="HGNC:HGNC:757"
                     /db_xref="MIM:600582"
                     /translation="MAEDKETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSVAVV
                     WFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVPPEEAEPHTEPE
                     EQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHETEHSYHVEETDSSEPVVEDERLHHD
                     TDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSIFPVEEQQEV
                     PPDT"
     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..559
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            560..607
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            608..640
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            641..682
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            683..739
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            740..784
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     exon            785..2528
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2491..2496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: ATTAAA"
     regulatory      2507..2512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="hexamer: AATAAA"
     polyA_site      2517
                     /gene="ASPH"
                     /gene_synonym="AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN;
                     junctin"
                     /note="major polyA site"
     polyA_site      2528
                     /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 aacatgaaac cgagcatagt
      541 taccacgtgg aagagacaga ttccagtgaa ccagtagtag aagatgaaag attgcaccat
      601 gatacagatg atgtaacata ccaagtctat gaggaacaag cagtatatga acctctagaa
      661 aatgaaggga tagaaatcac agaagtaact gctccccctg aggataatcc tgtagaagat
      721 tcacaggtaa ttgtagaaga agtaagcatt tttcctgtgg aagaacagca ggaagtacca
      781 ccagatactt aaagcttcaa aaagactgcc cctaccacca caggaggacc agcctaacca
      841 tacgctccaa aagatggctg tgatagatct tgtgaagcaa ttactgagca gatcaagatc
      901 tttgggaagg aacactaaag atgttttgaa tgaattatag tccactggca ttttagtgta
      961 tttttttttc tttttagaaa cacacatttc taaaaatgtc atgttacatt cctgcatgtc
     1021 ccttttgata gcattagtgg atccattgga tttctttttt ctttttgtga gacagctttt
     1081 agtcttacct gaatttatgt gtgtttttcc gacagtggtt aataattata ttggtgatgt
     1141 agcagcaatt gtgttggcag ggttttcata tattattagt aattaacact aactgttgga
     1201 ctgacttgtg tacactgtgt taaacatgat ttaaaagcta ttaagagtac tttgtgttag
     1261 cactcttaaa aacgctaaca gagatcatca ttagctgtga agatttgagt tgtatatacc
     1321 tgcactgata ttcttatcaa aaatttctac attagcttta agtgttcaga ttaacacttt
     1381 tgaaattttt gtagctttta gctgattaat tagaaaaatt taatatttca gtgaaagttt
     1441 taaattatca tttatttatt tttttaaatg agaggggaaa gctgaaattc cttgttaaga
     1501 cacaaggaaa aagaatggcc ctactattat catgcaaaaa tgctttgttg gcacctcaga
     1561 ttaatcatat aatagctata gtctcttcag catttgttta aattttagaa aacctgtata
     1621 aattactggt gcataactta aagattattc tgcctttggc taattgagta attcccctcc
     1681 agcactagag accgctcagt gctcttacta gatgaactca gtaacgcctt gagctgggtt
     1741 gattgaggat gtgtgaaaag ctcacagagc ccgatgcctg ctgctatttc acggcaatga
     1801 gcctttttct ttctacactg aagattttct tcttatttaa tgtggtttat tttgggctca
     1861 gaaataattg ctctgttgaa aataatcctt tgtcagaaaa gaaggtagct accacatcat
     1921 tttgaaagga ccatgagcaa ctataagcaa agccataaga agtggtttga tcgatatatt
     1981 aggggtagct cttgattttg ttaacattaa gataaggtga ctttttcccc ctgcttttag
     2041 gattaaaatc aaagatactt ctatattttt atcactatag atcatagtta ttatacaatg
     2101 tagtgagtcc tgcatgggta ctcgatgtgt aatgaaacct gaaataataa gataataaga
     2161 aaagcaataa ttttctaaag ctgtgctgtc ggtgatacag agatgatact caaattataa
     2221 taaaactctt cattttgtga attatagaag ctacttttta taaagccata tttttttagg
     2281 gaaactaagg agtgacatag aactgatgaa tgagtaaaag taagttttgc tggatttttg
     2341 tagaactctg gacgttgagg attcattatg ctgtggttaa ctttaaatat ttttgaattc
     2401 caaatatctg aattaatgag ccttgtcttt acaaatatgt gccattgtgc aacatcggtg
     2461 gattttctaa aaataatgta aatgtcttct attaaatgtt gagtgcaata aaatacagaa
     2521 gaattctc
//
