From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
A4GALT Identifiers
Aliases
A4GALT , A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK, alpha 1,4-galactosyltransferase, alpha 1,4-galactosyltransferase (P blood group)External IDs
OMIM :
607922 ;
MGI :
3512453 ;
HomoloGene :
9690 ;
GeneCards :
A4GALT ;
OMA :
A4GALT - orthologs
EC number
2.4.1.228
RNA expression pattern
Bgee
Human
Mouse (ortholog)
Top expressed in apex of heart olfactory zone of nasal mucosa right auricle gastric mucosa tibial nerve left ventricle thoracic aorta ascending aorta popliteal artery tibial arteries
Top expressed in decidua seminal vesicula interventricular septum choroid plexus of fourth ventricle cardiac muscle tissue of left ventricle entorhinal cortex plantaris muscle extensor digitorum longus muscle corneal stroma zygote
More reference expression data
BioGPS
Wikidata
Lactosylceramide 4-alpha-galactosyltransferase is an
enzyme that in humans is encoded by the A4GALT
gene .
[5]
[6]
The protein encoded by this gene catalyzes the transfer of
galactose to
lactosylceramide to form
globotriaosylceramide , which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor.
[6]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000128274 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000047878 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Keusch JJ, Manzella SM, Nyame KA, Cummings RD, Baenziger JU (Sep 2000).
"Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals" . J Biol Chem . 275 (33): 25315–21.
doi :
10.1074/jbc.M002630200 .
PMID
10854428 .
^
a
b
"Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)" .
Further reading
Dunham I, Shimizu N, Roe BA, et al. (1999).
"The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95.
Bibcode :
1999Natur.402..489D .
doi :
10.1038/990031 .
PMID
10591208 .
Steffensen R, Carlier K, Wiels J, et al. (2000).
"Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype" . J. Biol. Chem . 275 (22): 16723–9.
doi :
10.1074/jbc.M000728200 .
PMID
10747952 .
Kojima Y, Fukumoto S, Furukawa K, et al. (2000).
"Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids" . J. Biol. Chem . 275 (20): 15152–6.
doi :
10.1074/jbc.M909620199 .
PMID
10748143 .
Furukawa K, Iwamura K, Uchikawa M, et al. (2001).
"Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals" . J. Biol. Chem . 275 (48): 37752–6.
doi :
10.1074/jbc.C000625200 .
PMID
10993874 .
Furukawa K, Yokoyama K, Sato T, et al. (2002).
"Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins" . J. Biol. Chem . 277 (13): 11247–54.
doi :
10.1074/jbc.M109519200 .
PMID
11782470 .
Koda Y, Soejima M, Sato H, et al. (2002). "Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype". Transfusion . 42 (1): 48–51.
doi :
10.1046/j.1537-2995.2002.00014.x .
PMID
11896312 .
S2CID
36675818 .
Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" .
Proceedings of the National Academy of Sciences . 99 (26): 16899–16903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Iwamura K, Furukawa K, Uchikawa M, et al. (2004).
"The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle" . J. Biol. Chem . 278 (45): 44429–38.
doi :
10.1074/jbc.M301609200 .
PMID
12888565 .
Hellberg A, Ringressi A, Yahalom V, et al. (2004).
"Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection" . Br. J. Haematol . 125 (4): 528–36.
doi :
10.1111/j.1365-2141.2004.04930.x .
PMID
15142124 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
External links