Q7Z4J2 (GL6D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycosyltransferase 6 domain-containing protein 1
EC=2.4.1.-

Alternative name(s):
Galactosyltransferase family 6 domain-containing 1

Gene names

Name:	GLT6D1
Synonyms:	GLTDC1, GT6M7

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	308 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Single-pass type II membrane protein Potential.
Tissue specificity	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. Ref.3
Sequence similarities	Belongs to the glycosyltransferase 6 family.
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 (Ref.4). This short form is not supported by the available cDNA sequence, nor by orthologous sequences in other mammalian species.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	transferase activity, transferring hexosyl groups Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 308	308	Glycosyltransferase 6 domain-containing protein 1		PRO_0000311971
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 23	17	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	24 – 308	285	Lumenal Potential
Amino acid modifications
	Glycosylation	74	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	195	1	H → R. Ref.4 Corresponds to variant rs35762223 [ dbSNP | Ensembl ].		VAR_037382
	Natural variant	219	1	P → S. Ref.4 Corresponds to variant rs17040344 [ dbSNP | Ensembl ].		VAR_037383
	Natural variant	282	1	A → E. Corresponds to variant rs12336965 [ dbSNP | Ensembl ].		VAR_037384

Sequences

	Sequence		Length	Mass (Da)
	Q7Z4J2 [UniParc]. Last modified October 1, 2003. Version 1. Checksum: DB3D7E444D12988C	FASTA	308	36,274
	10 20 30 40 50 60 MNSKRMLLLV LFAFSLMLVE RYFRNHQVEE LRLSDWFHPR KRPDVITKTD WLAPVLWEGT 70 80 90 100 110 120 FDRRVLEKHY RRRNITVGLA VFATGRFAEE YLRPFLHSAN KHFMTGYRVI FYIMVDAFFK 130 140 150 160 170 180 LPDIEPSPLR TFKAFKVGTE RWWLDGPLVH VKSLGEHIAS HIQDEVDFLF SMAANQVFQN 190 200 210 220 230 240 EFGVETLGPL VAQLHAWWYF RNTKNFPYER RPTSAACIPF GQGDFYYGNL MVGGTPHNIL 250 260 270 280 290 300 DFIKEYLNGV IHDIKNGLNS TYEKHLNKYF YLNKPTKLLS PAYSWDLAFS PPPQIQYVKV AHDSQRKL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis." Schaefer A.S., Richter G.M., Nothnagel M., Manke T., Dommisch H., Jacobs G., Arlt A., Rosenstiel P., Noack B., Groessner-Schreiber B., Jepsen S., Loos B.G., Schreiber S. Hum. Mol. Genet. 19:553-562(2010) [PubMed: 19897590] [Abstract] 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: 19218399] [Abstract] Cited for: VARIANTS ARG-195 AND SER-219.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY336054 mRNA. Translation: AAQ01588.1. AL354761 Genomic DNA. No translation available.
IPI	IPI00375986.
RefSeq	NP_892019.2. NM_182974.2.
UniGene	Hs.522491.
3D structure databases
HSSP	HSSP built from PDB template 1VZU based on UniProtKB P14769.
ProteinModelPortal	Q7Z4J2.
SMR	Q7Z4J2. Positions 29-307.
ModBase	Search...
Protein-protein interaction databases
STRING	Q7Z4J2.
Protein family/group databases
CAZy	GT6. Glycosyltransferase Family 6.
PTM databases
PhosphoSite	Q7Z4J2.
Polymorphism databases
DMDM	74713517.
Proteomic databases
PRIDE	Q7Z4J2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371763; ENSP00000360829; ENSG00000204007.
GeneID	360203.
KEGG	hsa:360203.
Organism-specific databases
CTD	360203.
GeneCards	GC09M138515.
HGNC	HGNC:23671. GLT6D1.
HPA	HPA023424.
MIM	613699. gene.
neXtProt	NX_Q7Z4J2.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00400000022032.
HOGENOM	HBG446077.
HOVERGEN	HBG003563.
InParanoid	Q7Z4J2.
OrthoDB	EOG4C5CK3.
Gene expression databases
CleanEx	HS_GLT6D1.
Genevestigator	Q7Z4J2.
Family and domain databases
InterPro	IPR005076. Glyco_trans_6. [Graphical view]
PANTHER	PTHR10462. Glyco_trans_6. 1 hit.
Pfam	PF03414. Glyco_transf_6. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	100088.
SOURCE	Search...

Entry information

Entry name

GL6D1_HUMAN

Accession

Primary (citable) accession number: Q7Z4J2

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	October 1, 2003
Last modified:	January 25, 2012
This is version 51 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.