Q4G0N0 (GGTA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase

Alternative name(s):
Glycoprotein alpha-galactosyltransferase 1 pseudogene

Gene names

Name:	GGTA1P
Synonyms:	GGTA1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	100 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein By similarity.
Sequence similarities	Belongs to the glycosyltransferase 6 family.
Caution	Could be the product of a pseudogene. According to Ref.1, the human GGTA1 gene is an expressed pseudogene encoding non-functional truncated proteins containing the first four translated exons but missing the two catalytic exons. Although all exons expected to encode a functional GGTA1 of 371 residues are present in the human genome, all transcripts described encode truncated proteins that result from prematurely terminated transcription at the level of a strong transcriptional stop signal in the middle of intron 7. The premature transcriptional arrest of human GGTA1 gene leads to an ectopic splicing event and to the connection of a short intronic sequence downstream from translated exons.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Domain	Signal-anchor Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro glutathione metabolic process Traceable author statement PubMed 18357469. Source: UniProtKB leukotriene biosynthetic process Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell anchored to external side of plasma membrane Traceable author statement PubMed 18357469. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	gamma-glutamyltransferase activity Traceable author statement PubMed 18357469. Source: UniProtKB 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 – 100	100	Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase		PRO_0000333701
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 27	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	28 – 100	73	Lumenal Potential
Experimental info
	Sequence conflict	41	1	P → R in BC045756. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q4G0N0 [UniParc]. Last modified October 5, 2010. Version 2. Checksum: CA551358C2C8EE94	FASTA	100	11,568
	10 20 30 40 50 60 MNVKGKVILS MLVVSTVIIV FWEFINSTEG SFLWIYHSKN PEVDDSSAQK GWWFLSWFNN 70 80 90 100 GIHNYQQGEE DIDKEKGREE TKGRKMTQQS FGYGTGLIQT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A complete alpha1,3-galactosyltransferase gene is present in the human genome and partially transcribed." Lanteri M., Giordanengo V., Vidal F., Gaudray P., Lefebvre J.-C. Glycobiology 12:785-792(2002) [PubMed] [Europe PMC] [Abstract] 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]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF305838 mRNA. Translation: AAL09374.1. AL359644 Genomic DNA. No translation available. BC045756 mRNA. No translation available.
IPI	IPI00641358.
UniGene	Hs.97469.
3D structure databases
ProteinModelPortal	Q4G0N0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000362898.
Proteomic databases
PRIDE	Q4G0N0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
UCSC	uc004bll.1. human.
Organism-specific databases
GeneCards	GC09M124208.
HGNC	HGNC:4253. GGTA1P.
MIM	104175. gene.
neXtProt	NX_Q4G0N0.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG309263.
InParanoid	Q4G0N0.
Gene expression databases
Genevestigator	Q4G0N0.
Family and domain databases
InterPro	IPR005076. Glyco_trans_6. [Graphical view]
PANTHER	PTHR10462. PTHR10462. 1 hit.
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

GGTA1_HUMAN

Accession

Primary (citable) accession number: Q4G0N0
Secondary accession number(s): A2JVH9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	October 5, 2010
Last modified:	April 3, 2013
This is version 53 of the entry and version 2 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.