LOCUS       NM_001289104            2096 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens PRKCSH beta subunit of glucosidase II (PRKCSH),
            transcript variant 5, mRNA.
ACCESSION   NM_001289104 XM_005259987
VERSION     NM_001289104.2
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 2096)
  AUTHORS   Wang,Q., Wang,X., Li,J., Yin,T., Wang,Y. and Cheng,L.
  TITLE     PRKCSH serves as a potential immunological and prognostic biomarker
            in pan-cancer
  JOURNAL   Sci Rep 14 (1), 1778 (2024)
   PUBMED   38245572
  REMARK    GeneRIF: PRKCSH serves as a potential immunological and prognostic
            biomarker in pan-cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2096)
  AUTHORS   Lei,R., Zhou,M., Zhang,S., Luo,J., Qu,C., Wang,Y., Guo,P. and
            Huang,R.
  TITLE     Potential role of PRKCSH in lung cancer: bioinformatics analysis
            and a case study of Nano ZnO
  JOURNAL   Nanoscale 14 (12), 4495-4510 (2022)
   PUBMED   35254362
  REMARK    GeneRIF: Potential role of PRKCSH in lung cancer: bioinformatics
            analysis and a case study of Nano ZnO.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2096)
  AUTHORS   Wills,E.S., Te Morsche,R.H.M., van Reeuwijk,J., Horn,N.,
            Geomini,I., van de Laarschot,L.F.M., Mans,D.A., Ueffing,M.,
            Boldt,K., Drenth,J.P.H. and Roepman,R.
  TITLE     Liver cyst gene knockout in cholangiocytes inhibits cilium
            formation and Wnt signaling
  JOURNAL   Hum Mol Genet 26 (21), 4190-4202 (2017)
   PUBMED   28973524
  REMARK    GeneRIF: Results suggest that loss of PRKCSH and SEC63 leads to
            general defects in ciliogenesis, while quenching of the Wnt
            signaling cascade is cholangiocyte-restricted.
REFERENCE   4  (bases 1 to 2096)
  AUTHORS   Cnossen,W.R., Maurits,J.S., Salomon,J., Te Morsche,R.H.,
            Waanders,E. and Drenth,J.P.
  TITLE     Severe Polycystic Liver Disease Is Not Caused by Large Deletions of
            the PRKCSH Gene
  JOURNAL   J Clin Lab Anal 30 (5), 431-436 (2016)
   PUBMED   26365003
  REMARK    GeneRIF: This study demonstrated that Large copy number variations
            on germline level are not present in patients with a clinical
            diagnosis of Severe Polycystic Liver Disease.
REFERENCE   5  (bases 1 to 2096)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 2096)
  AUTHORS   Arendt,C.W. and Ostergaard,H.L.
  TITLE     Identification of the CD45-associated 116-kDa and 80-kDa proteins
            as the alpha- and beta-subunits of alpha-glucosidase II
  JOURNAL   J Biol Chem 272 (20), 13117-13125 (1997)
   PUBMED   9148925
REFERENCE   7  (bases 1 to 2096)
  AUTHORS   Trombetta,E.S., Simons,J.F. and Helenius,A.
  TITLE     Endoplasmic reticulum glucosidase II is composed of a catalytic
            subunit, conserved from yeast to mammals, and a tightly bound
            noncatalytic HDEL-containing subunit
  JOURNAL   J Biol Chem 271 (44), 27509-27516 (1996)
   PUBMED   8910335
REFERENCE   8  (bases 1 to 2096)
  AUTHORS   Ophoff,R.A., Terwindt,G.M., Vergouwe,M.N., van Eijk,R.,
            Mohrenweiser,H., Litt,M., Hofker,M.H., Haan,J., Ferrari,M.D. and
            Frants,R.R.
  TITLE     A 3-Mb region for the familial hemiplegic migraine locus on
            19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch
            Migraine Genetic Research Group
  JOURNAL   Eur J Hum Genet 4 (6), 321-328 (1996)
   PUBMED   9043864
REFERENCE   9  (bases 1 to 2096)
  AUTHORS   Hirai,M. and Shimizu,N.
  TITLE     Purification of two distinct proteins of approximate Mr 80,000 from
            human epithelial cells and identification as proper substrates for
            protein kinase C
  JOURNAL   Biochem J 270 (3), 583-589 (1990)
   PUBMED   2241894
REFERENCE   10 (bases 1 to 2096)
  AUTHORS   Sakai,K., Hirai,M., Minoshima,S., Kudoh,J., Fukuyama,R. and
            Shimizu,N.
  TITLE     Isolation of cDNAs encoding a substrate for protein kinase C:
            nucleotide sequence and chromosomal mapping of the gene for a human
            80K protein
  JOURNAL   Genomics 5 (2), 309-315 (1989)
   PUBMED   2793184
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK296187.1, AK130663.1 and
            AK225390.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 9, 2020 this sequence version replaced NM_001289104.1.
            
            Summary: This gene encodes the beta-subunit of glucosidase II, an
            N-linked glycan-processing enzyme in the endoplasmic reticulum. The
            encoded protein is an acidic phosphoprotein known to be a substrate
            for protein kinase C. Mutations in this gene have been associated
            with the autosomal dominant polycystic liver disease. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (5) has a longer 5' UTR, and uses
            an alternate in-frame splice site in the central coding region,
            compared to variant 1. The encoded isoform (3) is longer, compared
            to isoform 1. Both variants 4 and 5 encode the same isoform.
            
            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 :: AK296187.1, SRR14038193.2437428.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000677123.1/ ENSP00000503163.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-957               AK296187.1         6-962
            958-958             AK130663.1         964-964
            959-2093            AK296187.1         964-2098
            2094-2096           AK225390.1         2053-2055
FEATURES             Location/Qualifiers
     source          1..2096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2096
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /note="PRKCSH beta subunit of glucosidase II"
                     /db_xref="GeneID:5589"
                     /db_xref="HGNC:HGNC:9411"
                     /db_xref="MIM:177060"
     exon            1..72
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            73..228
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1757
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /EC_number="2.7.11.1"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 5; AGE-binding receptor 2; hepatocystin; protein
                     kinase C substrate, 80 Kda protein; glucosidase 2 subunit
                     beta; glucosidase II subunit beta; advanced glycation
                     end-product receptor 2; protein kinase C substrate 60.1
                     kDa protein heavy chain; protein kinase C substrate 80K-H"
                     /codon_start=1
                     /product="glucosidase 2 subunit beta isoform 3 precursor"
                     /protein_id="NP_001276033.1"
                     /db_xref="CCDS:CCDS74286.1"
                     /db_xref="GeneID:5589"
                     /db_xref="HGNC:HGNC:9411"
                     /db_xref="MIM:177060"
                     /translation="MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSA
                     TIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDG
                     TDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLI
                     ELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAF
                     KELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAI
                     RDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEED
                     SEVQGEQPKEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLK
                     DMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSP
                     TSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCE
                     YLMELMTPAACPEPPPEAPTEDDHDEL"
     exon            229..345
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            346..441
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            442..499
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            500..617
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            618..747
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            748..832
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            833..911
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            912..998
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1178
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1275
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..1345
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1435
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1510
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1610
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1773
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..2096
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2073..2078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /note="hexamer: AATAAA"
     polyA_site      2096
                     /gene="PRKCSH"
                     /gene_synonym="80K-H; AGE-R2; G19P1; GIIB; GIIbeta;
                     GluIIbeta; PCLD; PCLD1; PKCSH; PLD1; VASAP-60"
                     /note="major polyA site"
ORIGIN      
        1 ctttctgcag caggaaccgc ggctgctgga caagaggggt gcggtggata ctgacctttg
       61 ctccggcctc gtcgtgaaga cacagcgcat ctccccgctg taggcttcct cccacagaac
      121 ccgtttcggg cctcagagcg tctggtgaga tgctgttgcc gctgctgctg ctgctaccca
      181 tgtgctgggc cgtggaggtc aagaggcccc ggggcgtctc cctcaccaat catcacttct
      241 acgatgagtc caagcctttc acctgcctgg acggttcggc caccatccca tttgatcagg
      301 tcaacgatga ctattgcgac tgcaaagatg gctctgacga gccaggcacg gctgcctgtc
      361 ctaatggcag cttccactgc accaacactg gctataagcc cctgtatatc ccctccaacc
      421 gggtcaacga tggtgtttgt gactgctgcg atggaacaga cgagtacaac agcggcgtca
      481 tctgtgagaa cacctgcaaa gagaagggcc gtaaggagag agagtccctg cagcagatgg
      541 ccgaggtcac ccgcgaaggg ttccgtctga agaagatcct tattgaggac tggaagaagg
      601 cacgggagga gaagcagaaa aagctcattg agctacaggc tgggaagaag tctctggaag
      661 accaggtgga gatgctgcgg acagtgaagg aggaagctga gaagccagag agagaggcca
      721 aagagcagca ccagaagctg tgggaagagc agctggctgc tgccaaggcc caacaggagc
      781 aggagctggc ggctgatgcc ttcaaggagc tggatgatga catggacggg acggtctcgg
      841 tgactgagct gcagactcac ccggagctgg acacagatgg ggatggggcg ttgtcagaag
      901 cggaagctca ggccctcctc agtggggaca cacagacaga cgccacctct ttctacgacc
      961 gcgtctgggc cgccatcagg gacaagtacc ggtccgaggc actgcccacc gaccttccag
     1021 caccttctgc ccctgacttg acggagccca aggaggagca gccgccagtg ccctcgtcgc
     1081 ccacagagga ggaggaggag gaggaggagg aggaggaaga agaggctgaa gaagaggagg
     1141 aggaggagga ttccgaggtg cagggggagc agcccaagga ggccccaccg ccactgtcac
     1201 ccccgcagcc ggccagccct gctgaggaag acaaaatgcc gccctacgac gagcagacgc
     1261 aggccttcat cgatgctgcc caggaggccc gcaacaagtt cgaggaggcc gagcggtcgc
     1321 tgaaggacat ggaggagtcc atcaggaacc tggagcaaga gatttctttt gactttggcc
     1381 ccaacgggga gtttgcttac ctgtacagcc agtgctacga gctcaccacc aacgaatacg
     1441 tctaccgcct ctgccccttc aagcttgtct cgcagaaacc caaactcggg ggctctccca
     1501 ccagccttgg cacctggggc tcatggattg gccccgacca cgacaagttc agtgccatga
     1561 agtatgagca aggcacgggc tgctggcagg gccccaaccg ctccaccacc gtgcgcctcc
     1621 tgtgcgggaa agagaccatg gtgaccagca ccacagagcc cagtcgctgc gagtacctca
     1681 tggagctgat gacgccagcc gcctgcccgg agccaccgcc tgaagcaccc accgaagacg
     1741 accatgacga gctctagctg gatgggcgca gagaacctca agaaggcatg aagccagccc
     1801 ctgcagtgcc gtccacccgc ccctctgggc ctgcctgtgg ctctgttgcc ctcctctgtg
     1861 gcggcaggac ctttgtgggg cttcgtgccc tgctctgggg cccaggcggg gctggtccac
     1921 attcccaggc cccaacagcc ttcaaagatg ggtaaaggag cttgccctcc ctgggccccc
     1981 caccttggtg actcgcccca ccacccccag ccctgtccct gccacccctc ctagtgggga
     2041 ctagtgaatg acttgacctg tgacctcaat acaataaatg tgatccccca cccaaa
//
