A4GALT (alpha 1,4-galactosyltransferase (P1PK blood group))

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 53947
• Gene name: Alpha 1,4-galactosyltransferase (P1PK blood group)
• Gene symbol: A4GALT
• Synonyms (NCBI Gene): A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: 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,

SNPs Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940571	G>A,T	Affects	Genic downstream transcript variant, coding sequence variant, missense variant
rs28940572	C>T	Affects	Genic downstream transcript variant, coding sequence variant, missense variant
rs74315453	A>T	Affects	Genic downstream transcript variant, coding sequence variant, missense variant
rs74315454	C>G,T	Affects	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs387906279	AGA>-	Affects	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs387906280	->G	Affects	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397514502	G>C	Affects	Genic downstream transcript variant, missense variant, coding sequence variant
rs778598915	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant

miRNA Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016300	hsa-miR-193b-3p	Microarray	20304954
MIRT644090	hsa-miR-5193	HITS-CLIP	23824327
MIRT644089	hsa-miR-3183	HITS-CLIP	23824327
MIRT644088	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT644087	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT644086	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT644085	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT644084	hsa-miR-326	HITS-CLIP	23824327
MIRT644083	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT644082	hsa-miR-204-3p	HITS-CLIP	23824327
MIRT644081	hsa-miR-4646-5p	HITS-CLIP	23824327
MIRT644080	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT644079	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT644078	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT644077	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT644076	hsa-miR-4279	HITS-CLIP	23824327
MIRT644075	hsa-miR-4314	HITS-CLIP	23824327
MIRT644074	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT644090	hsa-miR-5193	HITS-CLIP	23824327
MIRT644089	hsa-miR-3183	HITS-CLIP	23824327
MIRT644088	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT644087	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT644086	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT644085	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT644084	hsa-miR-326	HITS-CLIP	23824327
MIRT644083	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT644082	hsa-miR-204-3p	HITS-CLIP	23824327
MIRT644081	hsa-miR-4646-5p	HITS-CLIP	23824327
MIRT644080	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT644079	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT644078	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT644077	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT644076	hsa-miR-4279	HITS-CLIP	23824327
MIRT644075	hsa-miR-4314	HITS-CLIP	23824327
MIRT644074	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT756609	hsa-miR-1267	CLIP-seq
MIRT756610	hsa-miR-185	CLIP-seq
MIRT756611	hsa-miR-1908	CLIP-seq
MIRT756612	hsa-miR-1910	CLIP-seq
MIRT756613	hsa-miR-1913	CLIP-seq
MIRT756614	hsa-miR-192	CLIP-seq
MIRT756615	hsa-miR-2110	CLIP-seq
MIRT756616	hsa-miR-2114	CLIP-seq
MIRT756617	hsa-miR-215	CLIP-seq
MIRT756618	hsa-miR-2392	CLIP-seq
MIRT756619	hsa-miR-3125	CLIP-seq
MIRT756620	hsa-miR-3150a-3p	CLIP-seq
MIRT756621	hsa-miR-3175	CLIP-seq
MIRT756622	hsa-miR-3179	CLIP-seq
MIRT756623	hsa-miR-3185	CLIP-seq
MIRT756624	hsa-miR-3189-5p	CLIP-seq
MIRT756625	hsa-miR-3202	CLIP-seq
MIRT756626	hsa-miR-324-3p	CLIP-seq
MIRT756627	hsa-miR-339-5p	CLIP-seq
MIRT756628	hsa-miR-3661	CLIP-seq
MIRT756629	hsa-miR-3689d	CLIP-seq
MIRT756630	hsa-miR-3916	CLIP-seq
MIRT756631	hsa-miR-4264	CLIP-seq
MIRT756632	hsa-miR-4286	CLIP-seq
MIRT756633	hsa-miR-4306	CLIP-seq
MIRT756634	hsa-miR-455-3p	CLIP-seq
MIRT756635	hsa-miR-4644	CLIP-seq
MIRT756636	hsa-miR-4688	CLIP-seq
MIRT756637	hsa-miR-4758-3p	CLIP-seq
MIRT756638	hsa-miR-486-3p	CLIP-seq
MIRT756639	hsa-miR-516b	CLIP-seq
MIRT756640	hsa-miR-631	CLIP-seq
MIRT756641	hsa-miR-663	CLIP-seq
MIRT756642	hsa-miR-939	CLIP-seq
MIRT1923125	hsa-miR-1207-5p	CLIP-seq
MIRT756609	hsa-miR-1267	CLIP-seq
MIRT1923126	hsa-miR-1914	CLIP-seq
MIRT756614	hsa-miR-192	CLIP-seq
MIRT1923127	hsa-miR-1976	CLIP-seq
MIRT756617	hsa-miR-215	CLIP-seq
MIRT1923128	hsa-miR-361-3p	CLIP-seq
MIRT1923129	hsa-miR-374a	CLIP-seq
MIRT1923130	hsa-miR-374b	CLIP-seq
MIRT1923131	hsa-miR-4447	CLIP-seq
MIRT1923132	hsa-miR-4472	CLIP-seq
MIRT1923133	hsa-miR-4763-3p	CLIP-seq
MIRT1923134	hsa-miR-4767	CLIP-seq
MIRT1923135	hsa-miR-544b	CLIP-seq
MIRT1923136	hsa-miR-596	CLIP-seq
MIRT2164664	hsa-miR-4469	CLIP-seq
MIRT2164665	hsa-miR-642a	CLIP-seq
MIRT2383714	hsa-miR-2861	CLIP-seq
MIRT756611	hsa-miR-1908	CLIP-seq
MIRT756615	hsa-miR-2110	CLIP-seq
MIRT756620	hsa-miR-3150a-3p	CLIP-seq
MIRT756621	hsa-miR-3175	CLIP-seq
MIRT756628	hsa-miR-3661	CLIP-seq
MIRT756629	hsa-miR-3689d	CLIP-seq
MIRT756640	hsa-miR-631	CLIP-seq
MIRT756641	hsa-miR-663	CLIP-seq
MIRT756642	hsa-miR-939	CLIP-seq
MIRT2466437	hsa-miR-3685	CLIP-seq
MIRT2466437	hsa-miR-3685	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	NAS	10748143
GO:0000139	Component	Golgi membrane	TAS
GO:0001576	Process	Globoside biosynthetic process	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	IBA
GO:0006688	Process	Glycosphingolipid biosynthetic process	NAS	10748143
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS
GO:0007009	Process	Plasma membrane organization	IDA	10747952
GO:0008378	Function	Galactosyltransferase activity	IBA
GO:0008378	Function	Galactosyltransferase activity	IDA	10747952, 10748143
GO:0015643	Function	Toxic substance binding	IEA
GO:0016020	Component	Membrane	IDA	10748143
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0050512	Function	Lactosylceramide 4-alpha-galactosyltransferase activity	IEA
GO:0050512	Function	Lactosylceramide 4-alpha-galactosyltransferase activity	TAS

Other IDs

• MIM: 607922
• HGNC: 18149
• e!Ensembl: ENSG00000128274

Protein

• UniProt ID: Q9NPC4
• Protein 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
• Protein function: Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04488	Gly_transf_sug	91 → 215	Glycosyltransferase sugar-binding region containing DXD motif	Family
  PF04572	Gb3_synth	222 → 349	Alpha 1,4-glycosyltransferase conserved region	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.
• Sequence:

  MSKPPDLLLRLLRGAPRQRVCTLFIIGFKFTFFVSIMIYWHVVGEPKEKGQLYNLPAEIP
  CPTLTPPTPPSHGPTPGNIFFLETSDRTNPNFLFMCSVESAARTHPESHVLVLMKGLPGG
  NASLPRHLGISLLSCFPNVQMLPLDLRELFRDTPLADWYAAVQGRWEPYLLPVLSDASRI
  ALMWKFGGIYLDTDFIVLKNLRNLTNVLGTQSRYVLNGAFLAFERRHEFMALCMRDFVDH
  YNGWIWGHQGPQLLTRVFKKWCSIRSLAESRACRGVTTLPPEAFYPIPWQDWKKYFEDIN
  PEELPRLLSATYAVHVWNKKSQGTRFEATSRALLAQLHARYCPTTHEAMKMYL

• Sequence length: 353

Pathways

KEGG Pathway

Glycosphingolipid biosynthesis - lacto and neolacto series

Glycosphingolipid biosynthesis - globo and isoglobo series

Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
NOR polyagglutination syndrome	Pathogenic	rs397514502	RCV002508135	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
A4GALT-congenital disorder of glycosylation	—	ClinGen	10747952, 10993874, 11896312, 12823750, 15142124, 18067504, 23927681, 27612185, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
A4GALT-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITT LYMPHOMA	—	CTD	11482875	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL CONGENITAL HYPEROSTOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile cortical hyperostosis	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
p phenotype	Affects; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	31420334	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (49)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	11782470		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29658052		★☆☆☆☆ Found in Text Mining only
African Burkitt`s lymphoma	African Burkitt`s Lymphoma	CTD_human_DG	11482875		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19245689	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	CTD_human_DG	11482875		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	CTD_human_DG	11482875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	11782470, 12944404, 1375849, 7516406	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	9763568	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	8679447	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26070511	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

B3GALT5 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. FUT1 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. ABO 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. B3GALNT1 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. RNMT 1 shared diseaseKidney failure 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Kidney failure) Related via 1 shared disease including Kidney failure — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
B3GALT5	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
FUT1	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
ABO	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
B3GALNT1	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
RNMT	1	["Kidney failure"]	0	[]	2	["GWAS catalog (Kidney disease)","GWAS catalog (Kidney failure)"]

Diseases Linked via Similar Genes

Major depressive disorder Linked via 3 of 5 related genesB3GALT5, ABO, RNMT Asthma Linked via 2 of 5 related genesB3GALT5, ABO Gout Linked via 2 of 5 related genesB3GALT5, ABO Respiratory system disease Linked via 2 of 5 related genesB3GALT5, ABO Crohn disease Linked via 2 of 5 related genesFUT1, ABO

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Major depressive disorder	3	["B3GALT5","ABO","RNMT"]
Asthma	2	["B3GALT5","ABO"]
Gout	2	["B3GALT5","ABO"]
Respiratory system disease	2	["B3GALT5","ABO"]
Crohn disease	2	["FUT1","ABO"]