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Q9NPC4 (A4GAT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lactosylceramide 4-alpha-galactosyltransferase

EC=2.4.1.228
Alternative name(s):
Alpha-1,4-N-acetylglucosaminyltransferase
Alpha-1,4-galactosyltransferase
Alpha4Gal-T1
CD77 synthase
Globotriaosylceramide synthase
Short name=Gb3 synthase
P1/Pk synthase
UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase
Gene names
Name:A4GALT
Synonyms:A14GALT, A4GALT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length353 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins.

Catalytic activity

UDP-alpha-D-galactose + beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide = UDP + alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein Probable.

Tissue specificity

Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.

Domain

The conserved DXD motif is involved in enzyme activity By similarity.

Polymorphism

Genetic variation in A4GALT is responsible for the P system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are clinically important because they can cause severe transfusion reactions and miscarriage.

Sequence similarities

Belongs to the glycosyltransferase 32 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 353353Lactosylceramide 4-alpha-galactosyltransferase
PRO_0000080578

Regions

Topological domain1 – 2222Cytoplasmic Potential
Transmembrane23 – 4321Helical; Signal-anchor for type II membrane protein; Potential
Topological domain44 – 353310Lumenal Potential
Motif192 – 1943DXD motif By similarity

Amino acid modifications

Glycosylation1211N-linked (GlcNAc...) Potential
Glycosylation2031N-linked (GlcNAc...) Potential

Natural variations

Natural variant371M → V. Ref.2 Ref.4 Ref.9
Corresponds to variant rs11541159 [ dbSNP | Ensembl ].
VAR_014296
Natural variant801Missing in p individuals. Ref.10
VAR_017507
Natural variant1631Q → R. Ref.4
Corresponds to variant rs28915383 [ dbSNP | Ensembl ].
VAR_022320
Natural variant1831M → K in p individuals; complete loss of activity. Ref.2 Ref.9
VAR_014297
Natural variant1871G → D in p individuals; partial loss of activity. Ref.9
Corresponds to variant rs28940572 [ dbSNP | Ensembl ].
VAR_017508
Natural variant2511P → L in p individuals; complete loss of activity. Ref.9
Corresponds to variant rs28940571 [ dbSNP | Ensembl ].
VAR_017509

Sequences

Sequence LengthMass (Da)Tools
Q9NPC4 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 8755865BDA5DA205

FASTA35340,499
        10         20         30         40         50         60 
MSKPPDLLLR LLRGAPRQRV CTLFIIGFKF TFFVSIMIYW HVVGEPKEKG QLYNLPAEIP 

        70         80         90        100        110        120 
CPTLTPPTPP SHGPTPGNIF FLETSDRTNP NFLFMCSVES AARTHPESHV LVLMKGLPGG 

       130        140        150        160        170        180 
NASLPRHLGI SLLSCFPNVQ MLPLDLRELF RDTPLADWYA AVQGRWEPYL LPVLSDASRI 

       190        200        210        220        230        240 
ALMWKFGGIY LDTDFIVLKN LRNLTNVLGT QSRYVLNGAF LAFERRHEFM ALCMRDFVDH 

       250        260        270        280        290        300 
YNGWIWGHQG PQLLTRVFKK WCSIRSLAES RACRGVTTLP PEAFYPIPWQ DWKKYFEDIN 

       310        320        330        340        350 
PEELPRLLSA TYAVHVWNKK SQGTRFEATS RALLAQLHAR YCPTTHEAMK MYL 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids."
Kojima Y., Fukumoto S., Furukawa K., Okajima T., Wiels J., Yokoyama K., Suzuki Y., Urano T., Ohta M., Furukawa K.
J. Biol. Chem. 275:15152-15156(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Melanoma.
[2]"Cloning and expression of the histo-blood group Pk UDP-galactose:Galbeta1-4Glcbeta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype."
Steffensen R., Carlier K., Wiels J., Levery S.B., Stroud M., Cedergren B., Nilsson Sojka B., Bennett E.P., Jersild C., Clausen H.
J. Biol. Chem. 275:16723-16729(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-37 AND LYS-183.
[3]"Human-specific amino acid changes found in 103 protein-coding genes."
Kitano T., Liu Y.-H., Ueda S., Saitou N.
Mol. Biol. Evol. 21:936-944(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]SeattleSNPs variation discovery resource
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-37 AND ARG-163.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Tongue.
[6]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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: Uterus.
[9]"Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals."
Furukawa K., Iwamura K., Uchikawa M., Sojka B.N., Wiels J., Okajima T., Urano T., Furukawa K.
J. Biol. Chem. 275:37752-37756(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VAL-37; LYS-183; ASP-187 AND LEU-251.
[10]"Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype."
Koda Y., Soejima M., Sato H., Maeda Y., Kimura H.
Transfusion 42:48-51(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHE-80 DEL.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

Lactosylceramide 4-alpha-galactosyltransferase

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037883 mRNA. Translation: BAA95915.1.
AJ245581 mRNA. Translation: CAB93532.1.
AB041418 Genomic DNA. Translation: BAA94503.1.
AY941797 Genomic DNA. Translation: AAX20109.1.
AK312927 mRNA. Translation: BAG35771.1.
Z82176 Genomic DNA. Translation: CAI18757.1.
CH471138 Genomic DNA. Translation: EAW73274.1.
BC017068 mRNA. Translation: AAH17068.1.
CCDSCCDS14041.1.
RefSeqNP_059132.1. NM_017436.4.
XP_005261700.1. XM_005261643.1.
XP_005261701.1. XM_005261644.1.
XP_005261703.1. XM_005261646.2.
XP_005261704.1. XM_005261647.1.
XP_005261705.1. XM_005261648.1.
XP_006724328.1. XM_006724265.1.
XP_006724329.1. XM_006724266.1.
XP_006724330.1. XM_006724267.1.
UniGeneHs.105956.

3D structure databases

ProteinModelPortalQ9NPC4.
SMRQ9NPC4. Positions 150-197.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119825. 1 interaction.
IntActQ9NPC4. 2 interactions.
MINTMINT-5210812.
STRING9606.ENSP00000249005.

Protein family/group databases

CAZyGT32. Glycosyltransferase Family 32.

PTM databases

PhosphoSiteQ9NPC4.

Polymorphism databases

DMDM25452796.

Proteomic databases

PaxDbQ9NPC4.
PRIDEQ9NPC4.

Protocols and materials databases

DNASU53947.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000249005; ENSP00000249005; ENSG00000128274.
ENST00000381278; ENSP00000370678; ENSG00000128274.
ENST00000401850; ENSP00000384794; ENSG00000128274.
GeneID53947.
KEGGhsa:53947.
UCSCuc003bdb.3. human.

Organism-specific databases

CTD53947.
GeneCardsGC22M043088.
HGNCHGNC:18149. A4GALT.
HPAHPA001141.
MIM111400. phenotype.
607922. gene.
neXtProtNX_Q9NPC4.
PharmGKBPA24359.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG251623.
HOVERGENHBG050427.
InParanoidQ9NPC4.
KOK01988.
OMAISFKFTF.
OrthoDBEOG75MVW8.
PhylomeDBQ9NPC4.
TreeFamTF324053.

Enzyme and pathway databases

BRENDA2.4.1.228. 2681.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9NPC4.
BgeeQ9NPC4.
CleanExHS_A4GALT.
GenevestigatorQ9NPC4.

Family and domain databases

InterProIPR007652. A1-4-GlycosylTfrase_dom.
IPR007577. GlycoTrfase_DXD_sugar-bd_CS.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF04572. Gb3_synth. 1 hit.
PF04488. Gly_transf_sug. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GeneWikiA4GALT.
GenomeRNAi53947.
NextBio56264.
PROQ9NPC4.
SOURCESearch...

Entry information

Entry nameA4GAT_HUMAN
AccessionPrimary (citable) accession number: Q9NPC4
Secondary accession number(s): B2R7C4, Q9P1X5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 25, 2002
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM