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   24-JAN-2024, entry version 95.
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   CCDS; CCDS94476.1; -.
DR   AlphaFoldDB; Q4G0N0; -.
DR   IntAct; Q4G0N0; 1.
DR   BioMuta; HGNC:4253; -.
DR   MassIVE; Q4G0N0; -.
DR   PeptideAtlas; 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   AGR; HGNC:4253; -.
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; WFSNGTH; -.
DR   OrthoDB; 5220302at2759; -.
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 192 other cell types or tissues.
DR   GO; GO:0031985; C:Golgi cisterna; ISS:UniProtKB.
DR   GO; GO:0032580; C:Golgi cisterna membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:1901750; P:leukotriene D4 biosynthetic process; ISS:UniProtKB.
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
//