GL6D1_HUMAN
ID GL6D1_HUMAN Reviewed; 276 AA.
AC Q7Z4J2;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-NOV-2018, sequence version 2.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Putative glycosyltransferase 6 domain-containing protein 1;
DE EC=2.4.1.-;
DE AltName: Full=Galactosyltransferase family 6 domain-containing 1;
GN Name=GLT6D1; Synonyms=GLTDC1, GT6M7;
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
RP VARIANT LYS-LEU-LEU-SER-PRO-ALA-TYR-SER-TRP-ASP-LEU-ALA-PHE-SER-PRO-PRO-
RP PRO-GLN-ILE-GLN-TYR-VAL-LYS-VAL-ALA-HIS-ASP-SER-GLN-ARG-LYS-LEU-276 INS.
RA Shan Y.X., Yu L.;
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP TISSUE SPECIFICITY.
RX PubMed=19897590; DOI=10.1093/hmg/ddp508;
RA Schaefer A.S., Richter G.M., Nothnagel M., Manke T., Dommisch H.,
RA Jacobs G., Arlt A., Rosenstiel P., Noack B., Groessner-Schreiber B.,
RA Jepsen S., Loos B.G., Schreiber S.;
RT "A genome-wide association study identifies GLT6D1 as a susceptibility
RT locus for periodontitis.";
RL Hum. Mol. Genet. 19:553-562(2010).
RN [4]
RP VARIANTS ARG-195 AND SER-219, AND CAUTION.
RX PubMed=19218399; DOI=10.1093/glycob/cwp017;
RA Casals F., Ferrer-Admetlla A., Sikora M., Ramirez-Soriano A.,
RA Marques-Bonet T., Despiau S., Roubinet F., Calafell F., Bertranpetit J.,
RA Blancher A.;
RT "Human pseudogenes of the ABO family show a complex evolutionary dynamics
RT and loss of function.";
RL Glycobiology 19:583-591(2009).
CC -!- COFACTOR:
CC Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
CC Evidence={ECO:0000250|UniProtKB:P14769};
CC Note=Binds 1 Mn(2+) ion per subunit. {ECO:0000250|UniProtKB:P14769};
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in both healthy and inflamed gingival
CC tissue samples at similar levels, with higher expression in the
CC gingival connective tissue compared to gingival epithelium. Strongest
CC expression in testis, followed by leukocytes.
CC {ECO:0000269|PubMed:19897590}.
CC -!- POLYMORPHISM: The stop codon in position 277 is polymorphic and is
CC replaced, though at very low frequency, by a Lys codon allowing the
CC translation of a longer protein. It is not clear if the common, shorter
CC variant shown here is functional or not. {ECO:0000305|PubMed:19218399}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 6 family. {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene.
CC {ECO:0000269|PubMed:19218399}.
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DR EMBL; AY336054; AAQ01588.1; -; mRNA.
DR EMBL; AL354761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43900.1; -.
DR RefSeq; NP_892019.2; NM_182974.2.
DR RefSeq; XP_011516939.1; XM_011518637.1.
DR AlphaFoldDB; Q7Z4J2; -.
DR SMR; Q7Z4J2; -.
DR BioGRID; 131861; 7.
DR STRING; 9606.ENSP00000360829; -.
DR DrugBank; DB02379; Beta-D-Glucose.
DR DrugBank; DB04465; Lactose.
DR DrugBank; DB01861; Uridine diphosphate glucose.
DR DrugBank; DB03685; Uridine monophosphate.
DR DrugBank; DB03435; Uridine-5'-Diphosphate.
DR CAZy; GT6; Glycosyltransferase Family 6.
DR GlyGen; Q7Z4J2; 1 site.
DR iPTMnet; Q7Z4J2; -.
DR PhosphoSitePlus; Q7Z4J2; -.
DR BioMuta; GLT6D1; -.
DR DMDM; 74713517; -.
DR PaxDb; Q7Z4J2; -.
DR PeptideAtlas; Q7Z4J2; -.
DR PRIDE; Q7Z4J2; -.
DR Antibodypedia; 8276; 54 antibodies from 16 providers.
DR DNASU; 360203; -.
DR Ensembl; ENST00000371763.6; ENSP00000360829.1; ENSG00000204007.8.
DR GeneID; 360203; -.
DR KEGG; hsa:360203; -.
DR MANE-Select; ENST00000371763.6; ENSP00000360829.1; NM_182974.3; NP_892019.2.
DR UCSC; uc010nbd.1; human.
DR CTD; 360203; -.
DR DisGeNET; 360203; -.
DR GeneCards; GLT6D1; -.
DR HGNC; HGNC:23671; GLT6D1.
DR HPA; ENSG00000204007; Tissue enriched (testis).
DR MIM; 613699; gene.
DR neXtProt; NX_Q7Z4J2; -.
DR OpenTargets; ENSG00000204007; -.
DR PharmGKB; PA134906610; -.
DR VEuPathDB; HostDB:ENSG00000204007; -.
DR eggNOG; ENOG502RU0J; Eukaryota.
DR GeneTree; ENSGT00950000182858; -.
DR HOGENOM; CLU_062445_1_0_1; -.
DR InParanoid; Q7Z4J2; -.
DR OMA; WLAPILW; -.
DR OrthoDB; 1204439at2759; -.
DR PhylomeDB; Q7Z4J2; -.
DR TreeFam; TF330991; -.
DR PathwayCommons; Q7Z4J2; -.
DR SignaLink; Q7Z4J2; -.
DR BioGRID-ORCS; 360203; 6 hits in 1066 CRISPR screens.
DR GenomeRNAi; 360203; -.
DR Pharos; Q7Z4J2; Tbio.
DR PRO; PR:Q7Z4J2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q7Z4J2; protein.
DR Bgee; ENSG00000204007; Expressed in left testis and 6 other tissues.
DR ExpressionAtlas; Q7Z4J2; baseline and differential.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031982; C:vesicle; IBA:GO_Central.
DR GO; GO:0016758; F:hexosyltransferase activity; IEA:InterPro.
DR GO; GO:0005975; P:carbohydrate metabolic process; IEA:InterPro.
DR GO; GO:0030259; P:lipid glycosylation; IBA:GO_Central.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR005076; Glyco_trans_6.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR PANTHER; PTHR10462; PTHR10462; 1.
DR Pfam; PF03414; Glyco_transf_6; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
PE 5: Uncertain;
KW Glycoprotein; Glycosyltransferase; Membrane; Reference proteome;
KW Signal-anchor; Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..276
FT /note="Putative glycosyltransferase 6 domain-containing
FT protein 1"
FT /id="PRO_0000311971"
FT TOPO_DOM 1..6
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 7..23
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 24..276
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT ACT_SITE 263
FT /note="Nucleophile"
FT /evidence="ECO:0000250|UniProtKB:P14769"
FT BINDING 82..87
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:P14769"
FT BINDING 173..175
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:P14769"
FT BINDING 195..198
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:P14769"
FT CARBOHYD 74
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 195
FT /note="H -> R (in dbSNP:rs35762223)"
FT /evidence="ECO:0000269|PubMed:19218399"
FT /id="VAR_037382"
FT VARIANT 219
FT /note="P -> S (in dbSNP:rs17040344)"
FT /evidence="ECO:0000269|PubMed:19218399"
FT /id="VAR_037383"
FT VARIANT 276
FT /note="T -> TKLLSPAYSWDLAFSPPPQIQYVKVAHDSQRKL"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_080956"
SQ SEQUENCE 276 AA; 32608 MW; 86B78B106F373B1C CRC64;
MNSKRMLLLV LFAFSLMLVE RYFRNHQVEE LRLSDWFHPR KRPDVITKTD WLAPVLWEGT
FDRRVLEKHY RRRNITVGLA VFATGRFAEE YLRPFLHSAN KHFMTGYRVI FYIMVDAFFK
LPDIEPSPLR TFKAFKVGTE RWWLDGPLVH VKSLGEHIAS HIQDEVDFLF SMAANQVFQN
EFGVETLGPL VAQLHAWWYF RNTKNFPYER RPTSAACIPF GQGDFYYGNL MVGGTPHNIL
DFIKEYLNGV IHDIKNGLNS TYEKHLNKYF YLNKPT
