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PMGT2_DANRE
ID   PMGT2_DANRE             Reviewed;         578 AA.
AC   Q5NDE5; Q502K0;
DT   05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-FEB-2005, sequence version 1.
DT   03-AUG-2022, entry version 100.
DE   RecName: Full=Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2;
DE            Short=POMGnT2;
DE            EC=2.4.1.312 {ECO:0000250|UniProtKB:Q8NAT1};
DE   AltName: Full=Extracellular O-linked N-acetylglucosamine transferase-like;
DE   AltName: Full=Glycosyltransferase-like domain-containing protein 2;
GN   Name=pomgnt2; Synonyms=ago61, gtdc2; ORFNames=im:7153239, zgc:112079;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Kiefer-Meyer M.C., Pagny S., Durambure G., Faye L., Gomord V.,
RA   Mollicone R., Oriol R.;
RT   "Phylogeny of xylosyltransferases.";
RL   Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   DEVELOPMENTAL STAGE.
RX   PubMed=22958903; DOI=10.1016/j.ajhg.2012.07.009;
RA   Manzini M.C., Tambunan D.E., Hill R.S., Yu T.W., Maynard T.M.,
RA   Heinzen E.L., Shianna K.V., Stevens C.R., Partlow J.N., Barry B.J.,
RA   Rodriguez J., Gupta V.A., Al-Qudah A.K., Eyaid W.M., Friedman J.M.,
RA   Salih M.A., Clark R., Moroni I., Mora M., Beggs A.H., Gabriel S.B.,
RA   Walsh C.A.;
RT   "Exome sequencing and functional validation in zebrafish identify GTDC2
RT   mutations as a cause of Walker-Warburg syndrome.";
RL   Am. J. Hum. Genet. 91:541-547(2012).
CC   -!- FUNCTION: O-linked mannose beta-1,4-N-acetylglucosaminyltransferase
CC       that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the
CC       mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-
CC       mannosylprotein. Involved in the biosynthesis of the phosphorylated O-
CC       mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-
CC       acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate
CC       structure present in alpha-dystroglycan (DAG1), which is required for
CC       binding laminin G-like domain-containing extracellular proteins with
CC       high affinity (By similarity). {ECO:0000250|UniProtKB:Q8NAT1}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + UDP-N-acetyl-
CC         alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-
CC         D-mannosyl)-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:37663,
CC         Rhea:RHEA-COMP:13547, Rhea:RHEA-COMP:13618, ChEBI:CHEBI:15378,
CC         ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:137323,
CC         ChEBI:CHEBI:137540; EC=2.4.1.312;
CC         Evidence={ECO:0000250|UniProtKB:Q8NAT1};
CC   -!- PATHWAY: Protein modification; protein glycosylation.
CC       {ECO:0000250|UniProtKB:Q8NAT1}.
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC       {ECO:0000250|UniProtKB:Q8NAT1}; Single-pass type II membrane protein
CC       {ECO:0000250|UniProtKB:Q8NAT1}.
CC   -!- DEVELOPMENTAL STAGE: Expressed in the embryo and larva throughout
CC       development, with highest levels in the developing brain, eyes and at
CC       the boundaries between somites. {ECO:0000269|PubMed:22958903}.
CC   -!- SIMILARITY: Belongs to the glycosyltransferase 61 family.
CC       {ECO:0000305}.
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DR   EMBL; AJ868539; CAI30873.1; -; mRNA.
DR   EMBL; BC095667; AAH95667.1; -; mRNA.
DR   AlphaFoldDB; Q5NDE5; -.
DR   SMR; Q5NDE5; -.
DR   STRING; 7955.ENSDARP00000111957; -.
DR   CAZy; GT61; Glycosyltransferase Family 61.
DR   PaxDb; Q5NDE5; -.
DR   Ensembl; ENSDART00000193303; ENSDARP00000151467; ENSDARG00000010941.
DR   ZFIN; ZDB-GENE-050522-242; pomgnt2.
DR   eggNOG; KOG4698; Eukaryota.
DR   GeneTree; ENSGT00940000160695; -.
DR   InParanoid; Q5NDE5; -.
DR   PhylomeDB; Q5NDE5; -.
DR   Reactome; R-DRE-5173105; O-linked glycosylation.
DR   UniPathway; UPA00378; -.
DR   PRO; PR:Q5NDE5; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 16.
DR   Bgee; ENSDARG00000010941; Expressed in blastula and 29 other tissues.
DR   ExpressionAtlas; Q5NDE5; baseline.
DR   GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0008375; F:acetylglucosaminyltransferase activity; ISS:UniProtKB.
DR   GO; GO:0016757; F:glycosyltransferase activity; IBA:GO_Central.
DR   GO; GO:0097363; F:protein O-GlcNAc transferase activity; IBA:GO_Central.
DR   GO; GO:0007420; P:brain development; IMP:ZFIN.
DR   GO; GO:0001764; P:neuron migration; ISS:UniProtKB.
DR   GO; GO:0006493; P:protein O-linked glycosylation; ISS:UniProtKB.
DR   GO; GO:0035269; P:protein O-linked mannosylation; ISS:UniProtKB.
DR   GO; GO:0060041; P:retina development in camera-type eye; IMP:ZFIN.
DR   CDD; cd00063; FN3; 1.
DR   Gene3D; 2.60.40.10; -; 1.
DR   InterPro; IPR003961; FN3_dom.
DR   InterPro; IPR036116; FN3_sf.
DR   InterPro; IPR007657; Glycosyltransferase_61.
DR   InterPro; IPR013783; Ig-like_fold.
DR   PANTHER; PTHR20961; PTHR20961; 1.
DR   Pfam; PF04577; Glyco_transf_61; 1.
DR   SUPFAM; SSF49265; SSF49265; 1.
DR   PROSITE; PS50853; FN3; 1.
PE   2: Evidence at transcript level;
KW   Endoplasmic reticulum; Glycoprotein; Glycosyltransferase; Membrane;
KW   Reference proteome; Signal-anchor; Transferase; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..578
FT                   /note="Protein O-linked-mannose beta-1,4-N-
FT                   acetylglucosaminyltransferase 2"
FT                   /id="PRO_0000249019"
FT   TOPO_DOM        1..4
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        5..25
FT                   /note="Helical; Signal-anchor for type II membrane protein"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        26..578
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          482..578
FT                   /note="Fibronectin type-III"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   CARBOHYD        98
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        275
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        541
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CONFLICT        282..283
FT                   /note="Missing (in Ref. 2; AAH95667)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        389
FT                   /note="Y -> H (in Ref. 2; AAH95667)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   578 AA;  67056 MW;  AEDF250FDC685D23 CRC64;
     MNLPAVLNGL LVSVVAALLW KYVRLVEHTS QLEEELQLTR QSQEFSQVRI DYHGALLALQ
     EHGTRMVCTG KMHTDRICRF DYLCYCTEAE EFVFFHSNAS VMLPNLGSRR FQPALLDLSS
     VEDHNTQYFN FLELPAAALK FMPKPVFVPD VTLILNRFNP DNLMHIFHDD LLPVYYTMQQ
     YSDLDDEARL VFMEGWGEGA HFDLYRLLSS KQPLLKDQLK TFGKLMCFTK SYVGLSKMTT
     WYQYGFVQPQ GPKANILISG NEIRQFASFL MERLNITREE EEEDDDYIVV FKRTTNRLIL
     NEAELLLALA QEFQMRTVTV SLEEQSFDNI IQIISRAAML VSMHGAQMIT SMFLPRGAAV
     VELFPYGVNP EQYTPYKTLA SLPGMDLQYV AWRNTMEENT VTFPDRPWDQ GGIVHLEKEE
     QERILASKEV PRHLCCRNPE WLFRIYQDTT VDLASFLDVL RDGLKKLNLK KAKVASTVHP
     GRVREPKCQT SVQATNEAKL SVSWQIPWNL KYLKVKEVKY EVWIQEQGEN TYMPYILPHQ
     NYTFSENIKP FTTYLVWVRC IFNKNLLGPF ADVLICKT
 
 
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