Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	53947
Gene name	Alpha 1,4-galactosyltransferase (P1PK blood group)
Gene symbol	A4GALT
Synonyms (NCBI Gene)	A14GALTA4GALT1Gb3SP(k)P1P1PKPK
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,

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

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

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

MIM	HGNC	e!Ensembl
607922	18149	ENSG00000128274

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

Interactions

View interactions

	KEGG
	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways

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)

Show/Hide Causal Diseases (1)

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

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
A4GALT-CONGENITAL DISORDER OF GLYCOSYLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITT LYMPHOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
p phenotype	Affects; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	24055776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27938475	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	11179369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19714252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19714252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia Vascular	Vascular dementia	Pubtator	30282881	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25448630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	16531566, 18707907, 19037253, 20837469, 23307880, 23691056, 24055776, 24496231, 24980630, 26070511, 27226774, 27681560, 27938475, 27983599, 28049500 View all (21 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	2157788, 21738355, 29927462	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease Cardiac Variant	Fabry disease	Pubtator	24980630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	31506488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23841715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24496231, 26070511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24496231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	11782470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	11179369, 24989888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	18757779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	18757779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11688759, 25448630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	24980630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	23691056, 26070511, 27049364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31331463		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11782470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	30175782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24463447	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10515895, 23430607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29572228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22990144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NOR POLYAGGLUTINATION SYNDROME	NOR POLYAGGLUTINATION SYNDROME	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	Pubtator	35748775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19714252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	19714252	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23773523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29553830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	8679447	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	9548444	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40312703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	27938475	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

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