• Gene id: 53947

Gene Summary

• Gene Symbol: A4GALT   Gene   UCSC   Ensembl
• Aliases: A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK
• Gene name: alpha 1,4-galactosyltransferase (P blood group)
• Alternate names: lactosylceramide 4-alpha-galactosyltransferase, CD77 synthase, GB3 synthase, P blood group (P one antigen), P one antigen (P blood group), P(k) antigen synthase, P1/Pk synthase, UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase, alpha 14-gal,
• Gene location: 22q13.2 (42721300: 42692111)     Exons: 18     NC_000022.11
• Gene summary(Entrez): 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. This protein, a type II membrane protein found in the Golgi,
• OMIM: 607922

Protein Summary

• Protein general information: Q9NPC4  
  • Name: Lactosylceramide 4 alpha galactosyltransferase (EC 2.4.1.228) (Alpha 1,4 N acetylglucosaminyltransferase) (Alpha 1,4 galactosyltransferase) (Alpha4Gal T1) (CD77 synthase) (Globotriaosylceramide synthase) (Gb3 synthase) (P1/Pk synthase) (UDP galactose:beta
  • Length: 353  
  • Mass: 40499
  • Tissue specificity: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.
• Sequence:

  MSKPPDLLLRLLRGAPRQRVCTLFIIGFKFTFFVSIMIYWHVVGEPKEKGQLYNLPAEIPCPTLTPPTPPSHGPT
  PGNIFFLETSDRTNPNFLFMCSVESAARTHPESHVLVLMKGLPGGNASLPRHLGISLLSCFPNVQMLPLDLRELF
  RDTPLADWYAAVQGRWEPYLLPVLSDASRIALMWKFGGIYLDTDFIVLKNLRNLTNVLGTQSRYVLNGAFLAFER
  RHEFMALCMRDFVDHYNGWIWGHQGPQLLTRVFKKWCSIRSLAESRACRGVTTLPPEAFYPIPWQDWKKYFEDIN
  PEELPRLLSATYAVHVWNKKSQGTRFEATSRALLAQLHARYCPTTHEAMKMYL

• Structural information:
  • Interpro: IPR007652  IPR007577  IPR029044  
  • STRING: ENSP00000384794
• Other Databases: GeneCards:  A4GALT  Malacards:  A4GALT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006688	glycosphingolipid biosynthetic process	IBA	biological process
GO:0008378	galactosyltransferase activity	IBA	molecular function
GO:0016758	transferase activity, transferring hexosyl groups	IBA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0050512	lactosylceramide 4-alpha-galactosyltransferase activity	IEA	molecular function
GO:0008378	galactosyltransferase activity	IDA	molecular function
GO:0008378	galactosyltransferase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0007009	plasma membrane organization	IDA	biological process
GO:0050512	lactosylceramide 4-alpha-galactosyltransferase activity	IEA	molecular function
GO:0015643	toxic substance binding	IEA	molecular function
GO:0001576	globoside biosynthetic process	IEA	biological process
GO:0008378	galactosyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0008378	galactosyltransferase activity	IDA	molecular function
GO:0030173	integral component of Golgi membrane	NAS	cellular component
GO:0006688	glycosphingolipid biosynthetic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series
hsa00603	Glycosphingolipid biosynthesis - globo and isoglobo series

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq