LOCUS       NM_004855               1910 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            B (PIGB), mRNA.
ACCESSION   NM_004855
VERSION     NM_004855.5
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 1910)
  AUTHORS   Palagano,E., Gordon,C.T., Uva,P., Strina,D., Dimartino,C.,
            Villa,A., Amiel,J., Guion-Almeida,M.L., Vendramini-Pittoli,S.,
            Kokitsu-Nakata,N.M., Zechi-Ceide,R.M. and Sobacchi,C.
  TITLE     A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis
            type 1 patients expands the spectrum of phenotypes associated with
            GPI biosynthesis defects
  JOURNAL   Bone 153, 116152 (2021)
   PUBMED   34400385
  REMARK    GeneRIF: A novel intronic variant in PIGB in Acrofrontofacionasal
            dysostosis type 1 patients expands the spectrum of phenotypes
            associated with GPI biosynthesis defects.
REFERENCE   2  (bases 1 to 1910)
  AUTHORS   Murakami,Y., Nguyen,T.T.M., Baratang,N., Raju,P.K., Knaus,A.,
            Ellard,S., Jones,G., Lace,B., Rousseau,J., Ajeawung,N.F., Kamei,A.,
            Minase,G., Akasaka,M., Araya,N., Koshimizu,E., van den Ende,J.,
            Erger,F., Altmuller,J., Krumina,Z., Strautmanis,J., Inashkina,I.,
            Stavusis,J., El-Gharbawy,A., Sebastian,J., Puri,R.D.,
            Kulshrestha,S., Verma,I.C., Maier,E.M., Haack,T.B., Israni,A.,
            Baptista,J., Gunning,A., Rosenfeld,J.A., Liu,P., Joosten,M.,
            Rocha,M.E., Hashem,M.O., Aldhalaan,H.M., Alkuraya,F.S.,
            Miyatake,S., Matsumoto,N., Krawitz,P.M., Rossignol,E., Kinoshita,T.
            and Campeau,P.M.
  TITLE     Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with
            an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
  JOURNAL   Am J Hum Genet 105 (2), 384-394 (2019)
   PUBMED   31256876
  REMARK    GeneRIF: Mutations in PIGB Cause an Inherited GPI Biosynthesis
            Defect with an Axonal Neuropathy and Metabolic Abnormality.
REFERENCE   3  (bases 1 to 1910)
  AUTHORS   Eisenhaber,B., Sinha,S., Wong,W.C. and Eisenhaber,F.
  TITLE     Function of a membrane-embedded domain evolutionarily multiplied in
            the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W,
            PIG-V, and PIG-Z
  JOURNAL   Cell Cycle 17 (7), 874-880 (2018)
   PUBMED   29764287
  REMARK    GeneRIF: Function of a membrane-embedded domain evolutionarily
            multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M,
            PIG-U, PIG-W, PIG-V, and PIG-Z has been described.
REFERENCE   4  (bases 1 to 1910)
  AUTHORS   Hwang,G.W., Hayashi,T., Kita,K., Takahashi,T., Kuge,S. and
            Naganuma,A.
  TITLE     siRNA-mediated inhibition of phosphatidylinositol glycan Class B
            (PIGB) confers resistance to methylmercury in HEK293 cells
  JOURNAL   J Toxicol Sci 32 (5), 581-583 (2007)
   PUBMED   18198489
  REMARK    GeneRIF: Downregulation of the gene for phosphatidylinositol glycan
            class B (PIGB) by siRNA confers resistance to methylmercury in
            HEK293 cells.
REFERENCE   5  (bases 1 to 1910)
  AUTHORS   Anikster,Y., Huizing,M., Anderson,P.D., Fitzpatrick,D.L., Klar,A.,
            Gross-Kieselstein,E., Berkun,Y., Shazberg,G., Gahl,W.A. and
            Hurvitz,H.
  TITLE     Evidence that Griscelli syndrome with neurological involvement is
            caused by mutations in RAB27A, not MYO5A
  JOURNAL   Am J Hum Genet 71 (2), 407-414 (2002)
   PUBMED   12058346
  REMARK    Erratum:[Am J Hum Genet 2002 Oct;71(4):1007]
REFERENCE   6  (bases 1 to 1910)
  AUTHORS   Kinoshita,T. and Inoue,N.
  TITLE     Dissecting and manipulating the pathway for
            glycosylphos-phatidylinositol-anchor biosynthesis
  JOURNAL   Curr Opin Chem Biol 4 (6), 632-638 (2000)
   PUBMED   11102867
  REMARK    Review article
REFERENCE   7  (bases 1 to 1910)
  AUTHORS   Takahashi,M., Inoue,N., Ohishi,K., Maeda,Y., Nakamura,N., Endo,Y.,
            Fujita,T., Takeda,J. and Kinoshita,T.
  TITLE     PIG-B, a membrane protein of the endoplasmic reticulum with a large
            lumenal domain, is involved in transferring the third mannose of
            the GPI anchor
  JOURNAL   EMBO J 15 (16), 4254-4261 (1996)
   PUBMED   8861954
REFERENCE   8  (bases 1 to 1910)
  AUTHORS   Mohney,R.P., Knez,J.J., Ravi,L., Sevlever,D., Rosenberry,T.L.,
            Hirose,S. and Medof,M.E.
  TITLE     Glycoinositol phospholipid anchor-defective K562 mutants with
            biochemical lesions distinct from those in Thy-1- murine lymphoma
            mutants
  JOURNAL   J Biol Chem 269 (9), 6536-6542 (1994)
   PUBMED   7907094
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA598474.1, AC018926.10 and
            AK223330.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004855.4.
            
            Summary: This gene encodes a transmembrane protein that is located
            in the endoplasmic reticulum and is involved in GPI-anchor
            biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a
            glycolipid found on many blood cells and serves to anchor proteins
            to the cell surface. This gene is thought to encode a member of a
            family of dolichol-phosphate-mannose (Dol-P-Man) dependent
            mannosyltransferases. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC017711.1, D42138.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000164305.10/ ENSP00000164305.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-192               DA598474.1         288-479
            193-326             AC018926.10        92321-92454
            327-446             AC018926.10        93317-93436
            447-551             AC018926.10        99577-99681
            552-682             AC018926.10        101770-101900
            683-823             AC018926.10        105913-106053
            824-875             AC018926.10        111313-111364
            876-1087            AC018926.10        112658-112869
            1088-1152           AC018926.10        113784-113848
            1153-1366           AC018926.10        122745-122958
            1367-1547           AC018926.10        126844-127024
            1548-1910           AK223330.1         1540-1902
FEATURES             Location/Qualifiers
     source          1..1910
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..1910
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class B"
                     /db_xref="GeneID:9488"
                     /db_xref="HGNC:HGNC:8959"
                     /db_xref="MIM:604122"
     exon            1..192
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1694
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /note="phosphatidylinositol glycan, class B; GPI
                     mannosyltransferase III; phosphatidylinositol-glycan
                     biosynthesis class B protein; dol-P-Man dependent GPI
                     mannosyltransferase; dol-P-Man dependent GPI
                     mannosyltransferase III"
                     /codon_start=1
                     /product="GPI mannosyltransferase 3"
                     /protein_id="NP_004846.4"
                     /db_xref="CCDS:CCDS61641.1"
                     /db_xref="GeneID:9488"
                     /db_xref="HGNC:HGNC:8959"
                     /db_xref="MIM:604122"
                     /translation="MRRPLSKCGMEPGGGDASLTLHGLQNRSHGKIKLRKRKSTLYFN
                     TQEKSARRRGDLLGENIYLLLFTIALRILNCFLVQTSFVPDEYWQSLEVSHHMVFNYG
                     YLTWEWTERLRSYTYPLIFASIYKILHLLGKDSVQLLIWIPRLAQALLSAVADVRLYS
                     LMKQLENQEVARWVFFCQLCSWFTWYCCTRTLTNTMETVLTIIALFYYPLEGSKSMNS
                     VKYSSLVALAFIIRPTAVILWTPLLFRHFCQEPRKLDLILHHFLPVGFVTLSLSLMID
                     RIFFGQWTLVQFNFLKFNVLQNWGTFYGSHPWHWYFSQGFPVILGTHLPFFIHGCYLA
                     PKRYRILLVTVLWTLLVYSMLSHKEFRFIYPVLPFCMVFCGYSLTHLKTWKKPALSFL
                     FLSNLFLALYTGLVHQRGTLDVMSHIQKVCYNNPNKSSASIFIMMPCHSTPYYSHVHC
                     PLPMRFLQCPPDLTGKSHYLDEADVFYLNPLNWLHREFHDDASLPTHLITFSILEEEI
                     SAFLISSNYKRTAVFFHTHLPEGRIGSHIYVYERKLKGKFNMKMKF"
     exon            193..328
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            329..446
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            447..551
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            552..682
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            683..823
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            824..875
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1087
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1152
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1366
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1547
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1910
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /note="hexamer: AATAAA"
     polyA_site      1910
                     /gene="PIGB"
                     /gene_synonym="DEE80; EIEE80; GPI-MT-III; PIG-B"
                     /note="major polyA site"
ORIGIN      
        1 cttccgcctt aggaaggtgg cggccaggga tgaggaggcc cctaagcaag tgcggaatgg
       61 agccgggggg cggagatgcc agcctcactt tgcatggtct ccagaaccgc tcccacggca
      121 agataaagct gcgaaagaga aagtctacct tgtacttcaa cacccaggag aagagcgcca
      181 ggcgccgcgg ggatcttctt ggagaaaata tttatctgct cttgtttacc atagctttac
      241 gaatattaaa ctgcttttta gtgcagacaa gttttgttcc agatgaatac tggcagtctc
      301 ttgaagtttc acatcacatg gttttcaatt atggttattt gacttgggaa tggacagaga
      361 gactgaggag ttacacttat cccttaatct ttgcaagcat ttacaagatt cttcatcttt
      421 tagggaaaga tagtgttcag ttgctgattt ggattcctag acttgcccaa gcacttctgt
      481 ctgctgtagc agatgtgaga ctttactcat taatgaagca actagaaaat caggaagtgg
      541 caagatgggt gtttttttgc cagttgtgct cctggttcac atggtattgc tgtaccagaa
      601 cccttacaaa caccatggaa actgttctca ctataattgc tcttttctac tatcctttgg
      661 aaggttcaaa gtctatgaac agtgtcaaat actcatccct ggtggcactt gccttcataa
      721 ttcgtcccac agctgtcatt ctgtggacac ctttgctctt cagacatttc tgtcaagaac
      781 caagaaagct tgatcttatt ctacatcatt ttttacctgt aggctttgtt actttgagtt
      841 tgtctctgat gattgatcgt attttttttg gccaatggac tctggttcaa tttaattttt
      901 tgaaatttaa cgtgctgcag aactggggaa cattttatgg ttctcatcca tggcactggt
      961 acttcagtca aggatttcca gttatcttgg gtactcactt acccttcttt attcatggct
     1021 gctatctagc accaaagaga taccggatac ttttggtgac tgtgctgtgg acactgcttg
     1081 tttatagcat gttgagccac aaagaattca ggtttattta tccagtttta ccattctgta
     1141 tggtgttctg tggatactca ttaacccacc tgaaaacatg gaagaaacca gctctaagtt
     1201 tcctgttttt atcaaatttg ttcctcgccc tttatactgg tttagttcat caacgaggta
     1261 ctcttgatgt catgagtcat attcaaaaag tttgttacaa caatcccaat aaatcttcag
     1321 cttcaatatt tataatgatg ccttgccact ctactcctta ttacagccat gttcactgcc
     1381 cacttcccat gagatttctc cagtgcccgc cagacctgac tggaaaaagt cattatcttg
     1441 atgaagcaga tgtattttac ctaaatccct taaactggtt acatagagag tttcatgatg
     1501 atgcatcatt gcctactcac ttgatcacct tcagcatttt ggaagaggaa ataagcgctt
     1561 tcctaatttc aagcaattat aaaagaactg ctgttttctt ccacactcac ttgccagagg
     1621 gtcgaattgg aagtcacata tatgtctatg aacggaagtt aaaagggaaa ttcaacatga
     1681 agatgaaatt ctgaactttc ctagataaat taacattgct gggtggaaat attcagatgc
     1741 tgcttaaata cttcggtaaa cactgggtaa gattcatgga acttagaaaa aagctgtatg
     1801 aactgcttta ccaaatatca ctactgagga aatgtataaa ataccacata gtataaaatt
     1861 acatgttaat acaatgccag attttaaata aagaccttta gttttcctca
//
