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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NOR polyagglutination syndrome	Pathogenic	rs397514502	RCV002508135

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
A4GALT-related disorder	Benign; Likely benign	rs6002904, rs11541159, rs9623659, rs377301330, rs576019459, rs374847765, rs28915381	RCV003980739 RCV003984159 RCV003984205 RCV003946319 RCV003934535 RCV003944144 RCV003916007
Infantile cortical hyperostosis	Likely benign	rs778598915	RCV000032631
p phenotype	Affects; Uncertain significance	rs74315453, rs28940571, rs74315454, rs28940572, rs387906279, rs387906280	RCV000002811 RCV000002812 RCV000002813 RCV000002814 RCV000002815 RCV000002816

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	12843015
Breast Neoplasms	Associate	19245689
Burkitt Lymphoma	Associate	11782470, 12944404, 1375849, 7516406
Burkitt Lymphoma	Inhibit	9763568
Carcinoma Embryonal	Associate	8679447
Cardiomyopathies	Associate	26070511
Cardiomyopathy Hypertrophic	Associate	24055776
Cardiovascular Diseases	Stimulate	27938475
Cataract Age Related Nuclear	Associate	34954695
Central Nervous System Neoplasms	Associate	11179369
Colonic Neoplasms	Associate	19714252
Colorectal Neoplasms	Associate	19714252
Cytomegalovirus Infections	Associate	20025986, 23841715, 30810104, 31438890
Death	Stimulate	24496231
Dementia Vascular	Stimulate	30282881
Drug Related Side Effects and Adverse Reactions	Associate	30175782
Essential Hypertension	Associate	25448630
Fabry Disease	Associate	16531566, 18707907, 19037253, 20837469, 23307880, 23691056, 24055776, 24496231, 24980630, 26070511, 27226774, 27681560, 27938475, 27983599, 28049500 View all (21 more)
Fabry Disease	Stimulate	2157788, 21738355, 29927462
Fabry Disease Cardiac Variant	Associate	24980630
Gastrointestinal Diseases	Associate	23841715
Heart Diseases	Associate	24496231, 26070511
Heart Failure	Associate	24496231
Hemolytic Uremic Syndrome	Associate	11179369, 24989888
HIV Infections	Associate	23242319
Hypertension	Associate	11688759, 25448630
Hypertrophy Left Ventricular	Associate	24980630
Infections	Associate	30810104, 7516406
Inflammation	Stimulate	30261035, 35417091
Jaundice	Associate	30810104
Kidney Diseases	Associate	23691056, 26070511, 27049364
Leukemia Megakaryoblastic Acute	Associate	11782470
Leukemia Myeloid	Associate	30175782
Lupus Erythematosus Systemic	Stimulate	24463447
Lymphoma	Associate	10515895, 23430607
Malformations of Cortical Development Group I	Associate	12944404
Mitochondrial Diseases	Associate	22990144
Multiple Organ Failure	Stimulate	21738355
Neoplasms	Associate	19714252, 20837469, 37916438
Neurologic Manifestations	Associate	24989888
Osteoporosis	Associate	35748775
Pancreatic Neoplasms	Associate	19714252
Pancreatitis	Stimulate	19714252
Pneumonia	Stimulate	20025986
Prostatic Neoplasms	Associate	23773523
Seminoma	Inhibit	8679447
Small Fiber Neuropathy	Associate	28672034
Stomach Neoplasms	Stimulate	9548444
Urinary Bladder Neoplasms	Associate	40312703
Vascular Diseases	Stimulate	27938475

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