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alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform b [Homo sapiens]

NCBI Reference Sequence: NP_001338212.1

Identical Proteins FASTA Graphics 

LOCUS       NP_001338212             507 aa            linear   PRI 06-APR-2024
DEFINITION  alpha-1,3-mannosyl-glycoprotein
            4-beta-N-acetylglucosaminyltransferase C isoform b [Homo sapiens].
ACCESSION   NP_001338212 XP_016874636
VERSION     NP_001338212.1
DBSOURCE    REFSEQ: accession NM_001351283.2
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  (residues 1 to 507)
  AUTHORS   Bliskunova,T., Genis-Mendoza,A.D., Martinez-Magana,J.J.,
            Vega-Sevey,J.G., Jimenez-Genchi,J., Roche,A., Guzman,R., Zapata,L.,
            Castro-Chavira,S., Fernandez,T., Villatoro-Velazquez,J.A.,
            Camarena,B., Fleiz-Bautista,C., Bustos-Gamino,M., Medina-Mora,M.E.
            and Nicolini,H.
  TITLE     Association of MGAT4C with major neurocognitive disorder in the
            Mexican population
  JOURNAL   Gene 778, 145484 (2021)
   PUBMED   33581268
  REMARK    GeneRIF: Association of MGAT4C with major neurocognitive disorder
            in the Mexican population.
REFERENCE   2  (residues 1 to 507)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 507)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 507)
  AUTHORS   Furukawa,T., Youssef,E.M., Yatsuoka,T., Yokoyama,T., Makino,N.,
            Inoue,H., Fukushige,S., Hoshi,M., Hayashi,Y., Sunamura,M. and
            Horii,A.
  TITLE     Cloning and characterization of the human UDP-N-acetylglucosamine:
            alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase
            IV-homologue (hGnT-IV-H) gene
  JOURNAL   J Hum Genet 44 (6), 397-401 (1999)
   PUBMED   10570912
REFERENCE   5  (residues 1 to 507)
  AUTHORS   Thomas,B.A.
  TITLE     Cicatricial pemphigoid with upper respiratory tract involvement
  JOURNAL   Br J Dermatol 80 (6), 413 (1968)
   PUBMED   5701727
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079865.14, AC139663.4, AC139697.5, AC016993.4 and KF511187.1.
            
            On May 5, 2017 this sequence version replaced XP_016874636.1.
            
            Transcript Variant: This variant (2), as well as variant 3, encodes
            isoform b.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..507
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.31-q21.32"
     Protein         1..507
                     /product="alpha-1,3-mannosyl-glycoprotein
                     4-beta-N-acetylglucosaminyltransferase C isoform b"
                     /EC_number="2.4.1.145"
                     /note="UDP-N-acetylglucosamine:a-1,3-D-mannoside
                     beta-1,4-N-acetylglucosaminyltransferase IV-homolog;
                     alpha-1,3-mannosyl-glycoprotein
                     4-beta-N-acetylglucosaminyltransferase C; mannosyl
                     (alpha-1,3-)-glycoprotein
                     beta-1,4-N-acetylglucosaminyltransferase, isozyme C
                     (putative); N-glycosyl-oligosaccharide-glycoprotein
                     N-acetylglucosaminyltransferase IVc;
                     UDP-N-acetylglucosamine: alpha-1,3-D-mannoside
                     beta-1,4-N-acetylglucosaminyltransferase IVc; gnT-IVc;
                     glcNAc-T IVc; N-acetylglucosaminyltransferase IV homolog"
                     /calculated_mol_wt=59334
     Region          58..70
                     /region_name="putative TM1 helix"
                     /note="putative TM1 helix [structural motif]"
                     /db_xref="CDD:409189"
     Region          93..359
                     /region_name="Glyco_transf_54"
                     /note="N-Acetylglucosaminyltransferase-IV (GnT-IV)
                     conserved region; pfam04666"
                     /db_xref="CDD:461384"
     CDS             1..507
                     /gene="MGAT4C"
                     /gene_synonym="GNTIVH; HGNT-IV-H"
                     /coded_by="NM_001351283.2:227..1750"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="GeneID:25834"
                     /db_xref="HGNC:HGNC:30871"
                     /db_xref="MIM:607385"
ORIGIN      
        1 mlgkdmvrfv vrktvqrsva kgsrrckkrm fkfhqmkhif eildkmrclr krstvsflgv
       61 lvifllfmnl yiedsyvleg dkqliretst hqlnseryvh tfkdlsnfsg ainvtyryla
      121 atplqrkryl tiglssvkrk kgnylletik sifeqssyee lkeisvvvhl adfnsswrda
      181 mvqditqkfa hhiiagrlmv ihapeeyypi ldglkrnynd pedrvkfrsk qnvdyaflln
      241 fcantsdyyv mleddvrcsk nfltaikkvi aslegtywvt lefsklgyig klyhshdlpr
      301 lahfllmfyq empcdwllth frgllaqknv irfkpslfqh mgyyssykgt enklkdddfe
      361 eesfdipdnp paslytnmnv fenyeaskay ssvdeyfwgk ppstgdvfvi vfenpiiikk
      421 ikvntgtedr qndilhhgal dvgenvmpsk qrrqcstylr lgefkngnfe msgvnqkipf
      481 dihcmriyvt ktqkewliir sisiwts
//
Feature
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