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Protein

Glycosyltransferase 6 domain-containing protein 1

Gene

GLT6D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Cofactori

Mn2+By similarityNote: Binds 1 Mn2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei263 – 2631NucleophileBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Protein family/group databases

CAZyiGT6. Glycosyltransferase Family 6.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase 6 domain-containing protein 1 (EC:2.4.1.-)
Alternative name(s):
Galactosyltransferase family 6 domain-containing 1
Gene namesi
Name:GLT6D1
Synonyms:GLTDC1, GT6M7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23671. GLT6D1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence analysis
Transmembranei7 – 2317Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini24 – 308285LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134906610.

Chemistry

DrugBankiDB04465. Lactose.

Polymorphism and mutation databases

BioMutaiGLT6D1.
DMDMi74713517.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 308308Glycosyltransferase 6 domain-containing protein 1PRO_0000311971Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi74 – 741N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ7Z4J2.
PaxDbiQ7Z4J2.
PRIDEiQ7Z4J2.

PTM databases

iPTMnetiQ7Z4J2.
PhosphoSiteiQ7Z4J2.

Expressioni

Tissue specificityi

Expressed in both healthy and inflamed gingival tissue samples at similar levels, with higher expression in the gingival connective tissue compared to gingival epithelium. Strongest expression in testis, followed by leukocytes.1 Publication

Gene expression databases

BgeeiQ7Z4J2.
CleanExiHS_GLT6D1.
ExpressionAtlasiQ7Z4J2. baseline and differential.

Organism-specific databases

HPAiHPA023424.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000360829.

Structurei

3D structure databases

ProteinModelPortaliQ7Z4J2.
SMRiQ7Z4J2. Positions 30-283.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni82 – 876Substrate bindingBy similarity
Regioni173 – 1753Substrate bindingBy similarity
Regioni195 – 1984Substrate bindingBy similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 6 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHE7. Eukaryota.
ENOG4111IPQ. LUCA.
HOGENOMiHOG000234339.
HOVERGENiHBG003563.
InParanoidiQ7Z4J2.
OrthoDBiEOG79CZ05.
PhylomeDBiQ7Z4J2.
TreeFamiTF330991.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10462. PTHR10462. 1 hit.
PfamiPF03414. Glyco_transf_6. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

Q7Z4J2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNSKRMLLLV LFAFSLMLVE RYFRNHQVEE LRLSDWFHPR KRPDVITKTD
60 70 80 90 100
WLAPVLWEGT FDRRVLEKHY RRRNITVGLA VFATGRFAEE YLRPFLHSAN
110 120 130 140 150
KHFMTGYRVI FYIMVDAFFK LPDIEPSPLR TFKAFKVGTE RWWLDGPLVH
160 170 180 190 200
VKSLGEHIAS HIQDEVDFLF SMAANQVFQN EFGVETLGPL VAQLHAWWYF
210 220 230 240 250
RNTKNFPYER RPTSAACIPF GQGDFYYGNL MVGGTPHNIL DFIKEYLNGV
260 270 280 290 300
IHDIKNGLNS TYEKHLNKYF YLNKPTKLLS PAYSWDLAFS PPPQIQYVKV

AHDSQRKL
Length:308
Mass (Da):36,274
Last modified:October 1, 2003 - v1
Checksum:iDB3D7E444D12988C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti195 – 1951H → R.1 Publication
Corresponds to variant rs35762223 [ dbSNP | Ensembl ].
VAR_037382
Natural varianti219 – 2191P → S.1 Publication
Corresponds to variant rs17040344 [ dbSNP | Ensembl ].
VAR_037383
Natural varianti282 – 2821A → E.
Corresponds to variant rs12336965 [ dbSNP | Ensembl ].
VAR_037384

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY336054 mRNA. Translation: AAQ01588.1.
AL354761 Genomic DNA. No translation available.
RefSeqiNP_892019.2. NM_182974.2.
UniGeneiHs.522491.

Genome annotation databases

EnsembliENST00000371763; ENSP00000360829; ENSG00000204007.
GeneIDi360203.
KEGGihsa:360203.
UCSCiuc010nbd.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY336054 mRNA. Translation: AAQ01588.1.
AL354761 Genomic DNA. No translation available.
RefSeqiNP_892019.2. NM_182974.2.
UniGeneiHs.522491.

3D structure databases

ProteinModelPortaliQ7Z4J2.
SMRiQ7Z4J2. Positions 30-283.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000360829.

Chemistry

DrugBankiDB04465. Lactose.

Protein family/group databases

CAZyiGT6. Glycosyltransferase Family 6.

PTM databases

iPTMnetiQ7Z4J2.
PhosphoSiteiQ7Z4J2.

Polymorphism and mutation databases

BioMutaiGLT6D1.
DMDMi74713517.

Proteomic databases

EPDiQ7Z4J2.
PaxDbiQ7Z4J2.
PRIDEiQ7Z4J2.

Protocols and materials databases

DNASUi360203.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371763; ENSP00000360829; ENSG00000204007.
GeneIDi360203.
KEGGihsa:360203.
UCSCiuc010nbd.1. human.

Organism-specific databases

CTDi360203.
GeneCardsiGLT6D1.
H-InvDBHIX0034812.
HGNCiHGNC:23671. GLT6D1.
HPAiHPA023424.
MIMi613699. gene.
neXtProtiNX_Q7Z4J2.
PharmGKBiPA134906610.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHE7. Eukaryota.
ENOG4111IPQ. LUCA.
HOGENOMiHOG000234339.
HOVERGENiHBG003563.
InParanoidiQ7Z4J2.
OrthoDBiEOG79CZ05.
PhylomeDBiQ7Z4J2.
TreeFamiTF330991.

Miscellaneous databases

GenomeRNAii360203.
PROiQ7Z4J2.
SOURCEiSearch...

Gene expression databases

BgeeiQ7Z4J2.
CleanExiHS_GLT6D1.
ExpressionAtlasiQ7Z4J2. baseline and differential.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10462. PTHR10462. 1 hit.
PfamiPF03414. Glyco_transf_6. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Shan Y.X., Yu L.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: TISSUE SPECIFICITY.
  4. "Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function."
    Casals F., Ferrer-Admetlla A., Sikora M., Ramirez-Soriano A., Marques-Bonet T., Despiau S., Roubinet F., Calafell F., Bertranpetit J., Blancher A.
    Glycobiology 19:583-591(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-195 AND SER-219.

Entry informationi

Entry nameiGL6D1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4J2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: October 1, 2003
Last modified: July 6, 2016
This is version 82 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

An alternative sequence, characterized by a stop codon in position 277, has been described and proposed to be the product of a pseudogene. This shorter sequence does not fulfill all criteria expected for a pseudogene and could be functional (PubMed:19218399). This short form is not supported by the available cDNA sequence, nor by orthologous sequences in other mammalian species.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.