GGTA1_HUMAN
ID GGTA1_HUMAN Reviewed; 100 AA.
AC Q4G0N0; A2JVH9;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase {ECO:0000305};
DE AltName: Full=Glycoprotein alpha-galactosyltransferase 1 pseudogene;
GN Name=GGTA1 {ECO:0000312|HGNC:HGNC:4253}; Synonyms=GGTA1P;
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].
RX PubMed=12499400; DOI=10.1093/glycob/cwf087;
RA Lanteri M., Giordanengo V., Vidal F., Gaudray P., Lefebvre J.-C.;
RT "A complete alpha1,3-galactosyltransferase gene is present in the human
RT genome and partially transcribed.";
RL Glycobiology 12:785-792(2002).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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).
RN [4]
RP REVIEW.
RX PubMed=25315716; DOI=10.1007/s00239-014-9652-x;
RA Galili U.;
RT "Significance of the evolutionary alpha1,3-galactosyltransferase (GGTA1)
RT gene inactivation in preventing extinction of apes and old world monkeys.";
RL J. Mol. Evol. 80:1-9(2015).
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane
CC {ECO:0000250|UniProtKB:P23336}; Single-pass type II membrane protein
CC {ECO:0000250|UniProtKB:P23336}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 6 family. {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene. According to
CC PubMed:12499400, the human GGTA1 gene is an expressed pseudogene
CC encoding non-functional truncated proteins containing the first four
CC translated exons but missing the two catalytic exons. Although all
CC exons expected to encode a functional GGTA1 of 371 residues are present
CC in the human genome, all transcripts described encode truncated
CC proteins that result from prematurely terminated transcription at the
CC level of a strong transcriptional stop signal in the middle of intron
CC 7. The premature transcriptional arrest of human GGTA1 gene leads to an
CC ectopic splicing event and to the connection of a short intronic
CC sequence downstream from translated exons. GGTA1 is active in
CC marsupials, nonprimate placental mammals, lemurs and New World monkeys
CC and synthesizes a carbohydrate antigen called 'alpha-gal epitope'. The
CC alpha-gal epitope is present in large numbers on cell membrane
CC glycolipids and glycoproteins. GGTA1 gene was inactivated in ancestral
CC Old World monkeys and apes and, because of this, they lack alpha-gal
CC epitopes and naturally produce an antibody called the 'anti-Gal
CC antibody' which binds specifically to alpha-gal epitopes, is the most
CC abundant antibody in humans and is responsible of rejection of
CC mammalian xenografts. {ECO:0000305|PubMed:12499400,
CC ECO:0000305|PubMed:25315716}.
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DR EMBL; AF305838; AAL09374.1; -; mRNA.
DR EMBL; AL359644; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045756; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; Q4G0N0; -.
DR IntAct; Q4G0N0; 1.
DR BioMuta; HGNC:4253; -.
DR MassIVE; Q4G0N0; -.
DR PeptideAtlas; Q4G0N0; -.
DR PRIDE; Q4G0N0; -.
DR ProteomicsDB; 62111; -.
DR Ensembl; ENST00000373793.3; ENSP00000504423.1; ENSG00000204136.12.
DR Ensembl; ENST00000481799.6; ENSP00000502991.1; ENSG00000204136.12.
DR Ensembl; ENST00000495328.5; ENSP00000504776.1; ENSG00000204136.12.
DR MANE-Select; ENST00000481799.6; ENSP00000502991.1; NM_001382585.1; NP_001369514.1.
DR GeneCards; GGTA1; -.
DR HGNC; HGNC:4253; GGTA1.
DR HPA; ENSG00000204136; Tissue enhanced (salivary).
DR MIM; 104175; gene.
DR neXtProt; NX_Q4G0N0; -.
DR OpenTargets; ENSG00000204136; -.
DR VEuPathDB; HostDB:ENSG00000204136; -.
DR GeneTree; ENSGT00410000028274; -.
DR InParanoid; Q4G0N0; -.
DR OMA; TKERKMT; -.
DR PhylomeDB; Q4G0N0; -.
DR BRENDA; 2.4.1.87; 2681.
DR PathwayCommons; Q4G0N0; -.
DR SignaLink; Q4G0N0; -.
DR ChiTaRS; GGTA1P; human.
DR Pharos; Q4G0N0; Tdark.
DR PRO; PR:Q4G0N0; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q4G0N0; protein.
DR Bgee; ENSG00000204136; Expressed in parotid gland and 190 other tissues.
DR GO; GO:0031985; C:Golgi cisterna; ISS:UniProtKB.
DR GO; GO:0032580; C:Golgi cisterna membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016758; F:hexosyltransferase activity; IEA:InterPro.
DR GO; GO:0005975; P:carbohydrate metabolic process; IEA:InterPro.
DR GO; GO:1901750; P:leukotriene D4 biosynthetic process; ISS:UniProtKB.
DR InterPro; IPR005076; Glyco_trans_6.
DR PANTHER; PTHR10462; PTHR10462; 1.
PE 1: Evidence at protein level;
KW Golgi apparatus; Membrane; Reference proteome; Signal-anchor;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..100
FT /note="Inactive N-acetyllactosaminide alpha-1,3-
FT galactosyltransferase"
FT /id="PRO_0000333701"
FT TOPO_DOM 1..6
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 7..27
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 28..100
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT CONFLICT 41
FT /note="P -> R (in Ref. 3; BC045756)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 100 AA; 11568 MW; CA551358C2C8EE94 CRC64;
MNVKGKVILS MLVVSTVIIV FWEFINSTEG SFLWIYHSKN PEVDDSSAQK GWWFLSWFNN
GIHNYQQGEE DIDKEKGREE TKGRKMTQQS FGYGTGLIQT
