B3GNL_HUMAN
ID B3GNL_HUMAN Reviewed; 361 AA.
AC Q67FW5; Q6GV30; Q8WUT3;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1;
DE Short=BGnT-like protein 1;
DE Short=Beta1,3-N-acetylglucosaminyltransferase-like protein 1;
DE Short=Beta3Gn-T-like protein 1;
DE Short=Beta3GnTL1;
DE EC=2.4.1.-;
DE AltName: Full=Beta-1,3-N-acetylglucosaminyltransferase 8;
DE Short=BGnT-8;
DE Short=Beta-1,3-Gn-T8;
DE Short=Beta3Gn-T8;
GN Name=B3GNTL1; Synonyms=B3GNT8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=15560372; DOI=10.1023/b:mole.0000043552.32411.67;
RA Zheng H., Li Y., Ji C., Li J., Zhang J., Yin G., Xu J., Ye X., Wu M.,
RA Zou X., Gu S., Xie Y., Mao Y.;
RT "Characterization of a cDNA encoding a protein with limited similarity to
RT beta1, 3-N-acetylglucosaminyltransferase.";
RL Mol. Biol. Rep. 31:171-175(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Huang C.Q., Wu S.L., Zhou J.L.;
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 65-361.
RC TISSUE=Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Putative glycosyltransferase. {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Widely expressed. Highly expressed in adult
CC pancreas. Expressed at moderate level in kidney, spleen, thymus,
CC prostate, testis and ovary. Weakly expressed in small intestine, colon,
CC peripheral blood leukocyte and liver. {ECO:0000269|PubMed:15560372}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 2 family. {ECO:0000305}.
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DR EMBL; AY304503; AAQ74775.1; -; mRNA.
DR EMBL; AY634364; AAT47555.1; -; mRNA.
DR EMBL; BC019623; AAH19623.1; -; mRNA.
DR RefSeq; NP_001009905.1; NM_001009905.2.
DR RefSeq; XP_006722335.1; XM_006722272.3.
DR AlphaFoldDB; Q67FW5; -.
DR SMR; Q67FW5; -.
DR BioGRID; 127003; 3.
DR IntAct; Q67FW5; 2.
DR STRING; 9606.ENSP00000319979; -.
DR CAZy; GT2; Glycosyltransferase Family 2.
DR iPTMnet; Q67FW5; -.
DR PhosphoSitePlus; Q67FW5; -.
DR BioMuta; B3GNTL1; -.
DR DMDM; 296434405; -.
DR EPD; Q67FW5; -.
DR jPOST; Q67FW5; -.
DR MassIVE; Q67FW5; -.
DR MaxQB; Q67FW5; -.
DR PaxDb; Q67FW5; -.
DR PeptideAtlas; Q67FW5; -.
DR PRIDE; Q67FW5; -.
DR ProteomicsDB; 65987; -.
DR Antibodypedia; 19925; 17 antibodies from 7 providers.
DR DNASU; 146712; -.
DR Ensembl; ENST00000320865.4; ENSP00000319979.4; ENSG00000175711.9.
DR Ensembl; ENST00000621596.2; ENSP00000480784.1; ENSG00000277033.2.
DR GeneID; 146712; -.
DR KEGG; hsa:146712; -.
DR UCSC; uc002kgg.1; human.
DR CTD; 146712; -.
DR DisGeNET; 146712; -.
DR GeneCards; B3GNTL1; -.
DR HGNC; HGNC:21727; B3GNTL1.
DR HPA; ENSG00000175711; Low tissue specificity.
DR MIM; 615337; gene.
DR neXtProt; NX_Q67FW5; -.
DR PharmGKB; PA134910219; -.
DR VEuPathDB; HostDB:ENSG00000175711; -.
DR eggNOG; KOG2977; Eukaryota.
DR HOGENOM; CLU_031597_0_0_1; -.
DR InParanoid; Q67FW5; -.
DR OMA; MPTWFCH; -.
DR OrthoDB; 1429280at2759; -.
DR PhylomeDB; Q67FW5; -.
DR TreeFam; TF315120; -.
DR PathwayCommons; Q67FW5; -.
DR Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR SignaLink; Q67FW5; -.
DR BioGRID-ORCS; 146712; 10 hits in 1074 CRISPR screens.
DR ChiTaRS; B3GNTL1; human.
DR GenomeRNAi; 146712; -.
DR Pharos; Q67FW5; Tdark.
DR PRO; PR:Q67FW5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q67FW5; protein.
DR Bgee; ENSG00000175711; Expressed in blood and 97 other tissues.
DR ExpressionAtlas; Q67FW5; baseline and differential.
DR Genevisible; Q67FW5; HS.
DR GO; GO:0016757; F:glycosyltransferase activity; IEA:UniProtKB-KW.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR001173; Glyco_trans_2-like.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR Pfam; PF00535; Glycos_transf_2; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
PE 2: Evidence at transcript level;
KW Glycosyltransferase; Reference proteome; Transferase.
FT CHAIN 1..361
FT /note="UDP-GlcNAc:betaGal beta-1,3-N-
FT acetylglucosaminyltransferase-like protein 1"
FT /id="PRO_0000289220"
FT VARIANT 341
FT /note="A -> T (in dbSNP:rs7225887)"
FT /id="VAR_032603"
FT CONFLICT 13
FT /note="S -> R (in Ref. 1; AAQ74775)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 361 AA; 40713 MW; 582F65C4C61E4BB6 CRC64;
MSGAGVGGAS EESQAMQAHV SIILPVHNAE PWLDECLRSV LQQDFEGTME LSVFNDASKD
KSGAIIEKWR VKLEDSGVHV IIGGHDSPSP RGVGYAKNQA VAQSSGSYLC FLDSDDVMMP
QRVRLQHEAA VQHPSSIIGC RVRRDPPNST ERYTRWINQL TPEQLLTQVF TSNGPTVIMP
TWFCSRAWFS HVGPFNEGGQ GVPEDLLFFY EHLRKGGGVI RVDQSLLLYR HHPQAATHCV
LETTIWTHRV RFLEEQALPR WAAFTIWNAG KQGRRLYRSL TAGSQRKVVA FCDVDENKIR
KGFYCHEDSQ ERPKPRIPIL HFRAARPPFV ICVKLDLTGG AFEDNLRSLH LQEGQDFLHF
S