ENSG00000128274


Homo sapiens

Features
Gene ID: ENSG00000128274
  
Biological name :A4GALT
  
Synonyms : A4GALT / alpha 1,4-galactosyltransferase (P blood group) / Q9NPC4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q13.2
Gene start: 42692112
Gene end: 42721298
  
Corresponding Affymetrix probe sets: 219488_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494127
Ensembl peptide - ENSP00000249005
Ensembl peptide - ENSP00000370678
Ensembl peptide - ENSP00000384794
NCBI entrez gene - 53947     See in Manteia.
OMIM - 607922
RefSeq - XM_017028831
RefSeq - NM_001318038
RefSeq - NM_017436
RefSeq - XM_005261648
RefSeq - XM_006724265
RefSeq - XM_006724266
RefSeq - XM_011530233
RefSeq - XM_005261644
RefSeq - XM_005261646
RefSeq - XM_005261647
RefSeq Peptide - NP_001304967
RefSeq Peptide - NP_059132
swissprot - Q9NPC4
swissprot - A0A0S2Z5J1
Ensembl - ENSG00000128274
  
Related genetic diseases (OMIM): 111400 - NOR polyagglutination syndrome, 111400
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 A4GALTENSGALG00000014128Gallus gallus
 A4galtENSMUSG00000047878Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A4GNT / Q9UNA3 / alpha-1,4-N-acetylglucosaminyltransferaseENSG0000011801730


Protein motifs (from Interpro)
Interpro ID Name
 IPR007577  Glycosyltransferase, DXD sugar-binding motif
 IPR007652  Alpha 1,4-glycosyltransferase domain
 IPR029044  Nucleotide-diphospho-sugar transferases


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001576 globoside biosynthetic process IEA
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006688 glycosphingolipid biosynthetic process NAS
 biological_processGO:0007009 plasma membrane organization IDA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030173 integral component of Golgi membrane NAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0008378 galactosyltransferase activity IDA
 molecular_functionGO:0015643 toxic substance binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0050512 lactosylceramide 4-alpha-galactosyltransferase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0010970 Blood group antigen abnormality "An abnormality of an erythrocyte cell surface molecule." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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