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
//