LOCUS       NM_198334               3835 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens glucosidase II alpha subunit (GANAB), transcript
            variant 2, mRNA.
ACCESSION   NM_198334
VERSION     NM_198334.3
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 3835)
  AUTHORS   Xue,X., Wu,X., Liu,L., Liu,L. and Zhu,F.
  TITLE     ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by
            Decreasing GANAB in Recent-Onset Schizophrenia
  JOURNAL   Viruses 15 (6), 1298 (2023)
   PUBMED   37376599
  REMARK    GeneRIF: ERVW-1 Activates ATF6-Mediated Unfolded Protein Response
            by Decreasing GANAB in Recent-Onset Schizophrenia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3835)
  AUTHORS   Lin,Q., Pei,L., Zhao,Z., Zhuang,X. and Qin,H.
  TITLE     Glycoprotein alpha-Subunit of Glucosidase II (GIIalpha) is a novel
            prognostic biomarker correlated with unfavorable outcome of
            urothelial carcinoma
  JOURNAL   BMC Cancer 22 (1), 817 (2022)
   PUBMED   35879690
  REMARK    GeneRIF: Glycoprotein alpha-Subunit of Glucosidase II (GIIalpha) is
            a novel prognostic biomarker correlated with unfavorable outcome of
            urothelial carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3835)
  AUTHORS   Lv,D., Chen,J., Kang,Y., Luo,M., Chen,H., Cui,B., Wang,L., Wang,J.,
            Zhou,X., Feng,Y., Huang,L. and Zhang,P.
  TITLE     Protein Kinase D3 Promotes the Reconstruction of OSCC Immune Escape
            Niche Via Regulating MHC-I and Immune Inhibit Molecules Expression
  JOURNAL   J Immunother 44 (9), 339-347 (2021)
   PUBMED   34545012
  REMARK    GeneRIF: Protein Kinase D3 Promotes the Reconstruction of OSCC
            Immune Escape Niche Via Regulating MHC-I and Immune Inhibit
            Molecules Expression.
REFERENCE   4  (bases 1 to 3835)
  AUTHORS   Cui,B., Chen,J., Luo,M., Liu,Y., Chen,H., Lu,D., Wang,L., Kang,Y.,
            Feng,Y., Huang,L. and Zhang,P.
  TITLE     PKD3 promotes metastasis and growth of oral squamous cell carcinoma
            through positive feedback regulation with PD-L1 and activation of
            ERK-STAT1/3-EMT signalling
  JOURNAL   Int J Oral Sci 13 (1), 8 (2021)
   PUBMED   33692335
  REMARK    GeneRIF: PKD3 promotes metastasis and growth of oral squamous cell
            carcinoma through positive feedback regulation with PD-L1 and
            activation of ERK-STAT1/3-EMT signalling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3835)
  AUTHORS   van de Laarschot,L.F.M., Te Morsche,R.H.M., Hoischen,A.,
            Venselaar,H., Roelofs,H.M., Cnossen,W.R., Banales,J.M., Roepman,R.
            and Drenth,J.P.H.
  TITLE     Novel GANAB variants associated with polycystic liver disease
  JOURNAL   Orphanet J Rare Dis 15 (1), 302 (2020)
   PUBMED   33097077
  REMARK    GeneRIF: Novel GANAB variants associated with polycystic liver
            disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3835)
  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 3835)
  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 3835)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301424
REFERENCE   9  (bases 1 to 3835)
  AUTHORS   Martiniuk,F., Ellenbogen,A. and Hirschhorn,R.
  TITLE     Identity of neutral alpha-glucosidase AB and the glycoprotein
            processing enzyme glucosidase II. Biochemical and genetic studies
  JOURNAL   J Biol Chem 260 (2), 1238-1242 (1985)
   PUBMED   3881423
REFERENCE   10 (bases 1 to 3835)
  AUTHORS   Martiniuk,F., Smith,M., Ellenbogen,A., Desnick,R.J., Astrin,K.,
            Mitra,J. and Hirschhorn,R.
  TITLE     Assignment of the gene for neutral alpha-glucosidase AB to
            chromosome 11
  JOURNAL   Cytogenet Cell Genet 35 (2), 110-116 (1983)
   PUBMED   6342981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK026997.1, AK314370.1 and
            D42041.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_198334.2.
            
            Summary: This gene encodes the alpha subunit of glucosidase II and
            a member of the glycosyl hydrolase 31 family of proteins. The
            heterodimeric enzyme glucosidase II plays a role in protein folding
            and quality control by cleaving glucose residues from immature
            glycoproteins in the endoplasmic reticulum. Expression of the
            encoded protein is elevated in lung tumor tissue and in response to
            UV irradiation. Mutations in this gene cause autosomal-dominant
            polycystic kidney and liver disease. [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (2) lacks an in-frame exon,
            compared to variant 3. The resulting isoform (2, also known as the
            alpha1 isoform) lacks an internal segment, compared to isoform 3.
            
            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 :: EU794613.1, D42041.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356638.8/ ENSP00000349053.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-682               AK026997.1         4-685
            683-2849            AK314370.1         685-2851
            2850-3605           AK026997.1         2854-3609
            3606-3835           D42041.1           3590-3819
FEATURES             Location/Qualifiers
     source          1..3835
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..3835
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /note="glucosidase II alpha subunit"
                     /db_xref="GeneID:23193"
                     /db_xref="HGNC:HGNC:4138"
                     /db_xref="MIM:104160"
     exon            1..52
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..2849
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /EC_number="3.2.1.207"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; alpha-glucosidase 2"
                     /codon_start=1
                     /product="neutral alpha-glucosidase AB isoform 2
                     precursor"
                     /protein_id="NP_938148.1"
                     /db_xref="CCDS:CCDS8026.1"
                     /db_xref="GeneID:23193"
                     /db_xref="HGNC:HGNC:4138"
                     /db_xref="MIM:104160"
                     /translation="MAAVAAVAARRRRSWASLVLAFLGVCLGITLAVDRSNFKTCEES
                     SFCKRQRSIRPGLSPYRALLDSLQLGPDSLTVHLIHEVTKVLLVLELQGLQKNMTRFR
                     IDELEPRRPRYRVPDVLVADPPIARLSVSGRDENSVELTMAEGPYKIILTARPFRLDL
                     LEDRSLLLSVNARGLLEFEHQRAPRVSQGSKDPAEGDGAQPEETPRDGDKPEETQGKA
                     EKDEPGAWEETFKTHSDSKPYGPMSVGLDFSLPGMEHVYGIPEHADNLRLKVTEGGEP
                     YRLYNLDVFQYELYNPMALYGSVPVLLAHNPHRDLGIFWLNAAETWVDISSNTAGKTL
                     FGKMMDYLQGSGETPQTDVRWMSETGIIDVFLLLGPSISDVFRQYASLTGTQALPPLF
                     SLGYHQSRWNYRDEADVLEVDQGFDDHNLPCDVIWLDIEHADGKRYFTWDPSRFPQPR
                     TMLERLASKRRKLVAIVDPHIKVDSGYRVHEELRNLGLYVKTRDGSDYEGWCWPGSAG
                     YPDFTNPTMRAWWANMFSYDNYEGSAPNLFVWNDMNEPSVFNGPEVTMLKDAQHYGGW
                     EHRDVHNIYGLYVHMATADGLRQRSGGMERPFVLARAFFAGSQRFGAVWTGDNTAEWD
                     HLKISIPMCLSLGLVGLSFCGADVGGFFKNPEPELLVRWYQMGAYQPFFRAHAHLDTG
                     RREPWLLPSQHNDIIRDALGQRYSLLPFWYTLLYQAHREGIPVMRPLWVQYPQDVTTF
                     NIDDQYLLGDALLVHPVSDSGAHGVQVYLPGQGEVWYDIQSYQKHHGPQTLYLPVTLS
                     SIPVFQRGGTIVPRWMRVRRSSECMKDDPITLFVALSPQGTAQGELFLDDGHTFNYQT
                     RQEFLLRRFSFSGNTLVSSSADPEGHFETPIWIERVVIIGAGKPAAVVLQTKGSPESR
                     LSFQHDPETSVLVLRKPGINVASDWSIHLR"
     exon            53..157
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            158..266
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            267..394
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            395..574
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            575..644
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            645..732
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            733..829
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            830..1010
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1164
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1400
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1527
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1607
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1751
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..1848
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..1950
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2194
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2195..2259
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2260..2336
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2337..2411
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2412..2525
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2526..2638
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2639..2739
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2740..3835
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3815..3820
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /note="hexamer: AATAAA"
     polyA_site      3835
                     /gene="GANAB"
                     /gene_synonym="G2AN; GIIA; GIIalpha; GLUII; PKD3"
                     /note="major polyA site"
ORIGIN      
        1 aaactctgca caagatggcg gcggtagcgg cagtggcggc gcgtaggagg cggtcttggg
       61 cgtctttggt actggctttt ttaggggtct gcctggggat tacccttgct gtggatagaa
      121 gcaactttaa gacctgtgaa gagagttctt tctgcaagcg acagagaagc atacggccag
      181 gcctctctcc ataccgagcc ttgctggact ctctacagct tggtcctgat tccctcacgg
      241 tccatctgat ccatgaggtc accaaggtgt tgctggtgct agagcttcag gggcttcaaa
      301 agaacatgac tcggttcagg attgatgagc tggagcctcg gcgaccccga taccgtgtac
      361 cagatgtttt ggtggctgat ccaccaatag cccggctttc tgtctctggt cgtgatgaga
      421 acagtgtgga gttaaccatg gctgagggac cctacaagat catcttgaca gcacggccat
      481 tccgccttga cctactagag gaccgaagtc ttttgcttag tgtcaatgcc cgaggactct
      541 tggagtttga gcatcagagg gcccctaggg tctcgcaagg atcaaaagac ccagctgagg
      601 gcgatggggc ccagcctgag gaaacaccca gggatggcga caagccagag gagactcagg
      661 ggaaggcaga gaaagatgag ccaggagcct gggaggagac attcaaaact cactctgaca
      721 gcaagccgta tggccccatg tctgtgggtt tggacttctc tctgccaggc atggagcatg
      781 tctatgggat ccctgagcat gcagacaacc tgaggctgaa ggtcactgag ggtggggagc
      841 catatcgcct ctacaatttg gatgtgttcc agtatgagct gtacaaccca atggccttgt
      901 atgggtctgt gcctgtgctc ctggcacaca accctcatcg cgacttgggc atcttctggc
      961 tcaatgctgc agagacctgg gttgatatat cttccaacac tgccgggaag accctgtttg
     1021 ggaagatgat ggactacctg cagggctctg gggagacccc acagacagat gttcgctgga
     1081 tgtcagagac tggcatcatt gacgtcttcc tgctgctggg gccctccatc tctgatgttt
     1141 tccggcaata tgctagtctc acaggaaccc aggcgttgcc cccactcttc tccctcggct
     1201 accaccagag ccgttggaac taccgggacg aggctgatgt gctggaagtg gatcagggct
     1261 ttgatgatca caacctgccc tgtgatgtca tctggctaga cattgaacat gctgatggca
     1321 agcggtattt cacctgggac cccagtcgct tccctcagcc ccgcaccatg cttgagcgct
     1381 tggcttctaa gaggcggaag ctggtggcca tcgtagaccc ccacatcaag gtggactccg
     1441 gctaccgagt tcacgaggag ctgcggaacc tggggctgta tgttaaaacc cgggatggct
     1501 ctgactatga gggctggtgc tggccaggct cagctggtta ccctgacttc actaatccca
     1561 cgatgagggc ctggtgggct aacatgttca gctatgacaa ttatgagggc tcagctccca
     1621 acctctttgt ctggaatgac atgaacgaac catctgtgtt caatggtcct gaggtcacca
     1681 tgctcaagga tgcccagcat tatgggggct gggagcaccg ggatgtgcat aacatctatg
     1741 gcctttatgt gcacatggcg actgctgatg ggctgagaca gcgctctggg ggcatggaac
     1801 gcccctttgt cctggccagg gccttcttcg ctggctccca gcgctttgga gccgtgtgga
     1861 caggggacaa cactgccgag tgggaccatt tgaagatctc tattcctatg tgtctcagct
     1921 tggggctggt gggactttcc ttctgtgggg cggatgtggg tggcttcttc aaaaacccag
     1981 agccagagct gcttgtgcgc tggtaccaga tgggtgctta ccagccattc ttccgggcac
     2041 atgcccactt ggacactggg cgacgagagc catggctgtt accatctcag cacaatgata
     2101 taatccgaga tgccttgggc cagcgatatt ctttgctgcc cttctggtac accctcttat
     2161 atcaggccca tcgggaaggc attcctgtca tgaggcccct gtgggtgcag taccctcagg
     2221 atgtgactac cttcaatata gatgatcagt acttgcttgg ggatgcgttg ctggttcacc
     2281 ctgtatcaga ctctggagcc catggtgtcc aggtctatct gcctggccaa ggggaggtgt
     2341 ggtatgacat tcaaagctac cagaagcatc atggtcccca gaccctgtac ctgcctgtaa
     2401 ctctaagcag tatccctgtg ttccagcgtg gagggacaat cgtgcctcga tggatgcgag
     2461 tgcggcggtc ttcagaatgt atgaaggatg accccatcac tctctttgtt gcacttagcc
     2521 ctcagggtac agctcaagga gagctctttc tggatgatgg gcacacgttc aactatcaga
     2581 ctcgccaaga gttcctgctg cgtcgattct cattctctgg caacaccctt gtctccagct
     2641 cagcagaccc tgaaggacac tttgagacac caatctggat tgagcgggtg gtgataatag
     2701 gggctggaaa gccagcagct gtggtactcc agacaaaagg atctccagaa agccgcctgt
     2761 ccttccagca tgaccctgag acctctgtgt tggtcctgcg caagcctggc atcaatgtgg
     2821 catctgattg gagtattcac ctgcgataac ccaagggatg ttctgggtta gggggaggga
     2881 aggggagcat tagtgctgag agatattctt tcttctgcct tggagttcgg ccctccccag
     2941 acttcactta tgctagtcta agacccagat tctgccaaca tttgggcagg atgagagggc
     3001 tgaccctggg ctccaaattc ctcttgtgat ctcctcacct ctcccactcc attgatacca
     3061 actctttccc ttcattcccc caacatcctg ttgctctaac tggagcacat tcacttacga
     3121 acaccaggaa accacagggc ccttgtcgcc ccttctcttt cccttattta ggagccctga
     3181 actcccccag agtctatcca ttcatgcctc ttgtatgttg atgccacttc ttggaagaag
     3241 atgagggcaa tgagttaggg ctccttttcc ccttccctcc caccagattg ctctcccacc
     3301 tttcatttct tcctccaggc tttactcccc tttttatgcc ccaccgatac actgggacca
     3361 ccccttaccc cggacaggat gaatggatca aaggagtgag gttgctaaag aacatccttt
     3421 tccctctcat tctacccttt tcctctcccc gattccttgt agagctgctg caattcttag
     3481 aggggcagtt ctacctcctc tgtccctcgg cagaaagacg tttccacacc tcttagggga
     3541 tgcgcattaa acttcttttg cccccttctt gtcccctttg aggggcactt aagatggaga
     3601 aatcagttgt ggtttcagtg aatcatggtc acctgtattt attgctagga gaagcctgag
     3661 ggtgggggga gatgatcatg tgtgctcggg gttggctgga agccctgggt ggggggttgg
     3721 gggaggacta atggggagtc ggggaatatt tgtgggtatt ttttttactt cctcttggtt
     3781 cccagctgtg acacgttttg atcaaaggag aaacaataaa gggataaacc ataaa
//
