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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6487
Gene name	ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Gene symbol	ST3GAL3
Synonyms (NCBI Gene)	DEE15EIEE15MRT12SIAT6ST3GALIIST3Gal IIIST3GalIIIST3N
Chromosome	1
Chromosome location	1p34.1
Summary	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically proc

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115003742	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant
rs147330005	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs201204481	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant, non coding transcript variant
rs387906943	C>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs553120567	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs563317319	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, downstream transcript variant, intron variant, genic downstream transcript variant
rs1015506821	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant
rs1557563410	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant, intron variant, non coding transcript variant
rs1557612719	G>T	Pathogenic	Coding sequence variant, missense variant, stop lost, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, terminator codon variant, non coding transcript variant

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Show/Hide all (121)

miRTarBase ID	miRNA	Experiments
MIRT1393517	hsa-miR-1285	CLIP-seq
MIRT1393518	hsa-miR-1302	CLIP-seq
MIRT1393519	hsa-miR-138	CLIP-seq
MIRT1393520	hsa-miR-2861	CLIP-seq
MIRT1393521	hsa-miR-3158-3p	CLIP-seq
MIRT1393522	hsa-miR-3187-5p	CLIP-seq
MIRT1393523	hsa-miR-370	CLIP-seq
MIRT1393524	hsa-miR-4298	CLIP-seq
MIRT1393525	hsa-miR-4299	CLIP-seq
MIRT1393526	hsa-miR-4446-3p	CLIP-seq
MIRT1393527	hsa-miR-4481	CLIP-seq
MIRT1393528	hsa-miR-4492	CLIP-seq
MIRT1393529	hsa-miR-4498	CLIP-seq
MIRT1393530	hsa-miR-4710	CLIP-seq
MIRT1393531	hsa-miR-4731-5p	CLIP-seq
MIRT1393532	hsa-miR-4745-5p	CLIP-seq
MIRT1393533	hsa-miR-4758-5p	CLIP-seq
MIRT1393534	hsa-miR-4792	CLIP-seq
MIRT1393535	hsa-miR-612	CLIP-seq
MIRT1393536	hsa-miR-762	CLIP-seq
MIRT1393537	hsa-miR-3120-3p	CLIP-seq
MIRT1393538	hsa-miR-3137	CLIP-seq
MIRT1393539	hsa-miR-3943	CLIP-seq
MIRT1393540	hsa-miR-4323	CLIP-seq
MIRT1393541	hsa-miR-4758-3p	CLIP-seq
MIRT1393542	hsa-miR-486-5p	CLIP-seq
MIRT2340067	hsa-miR-374c	CLIP-seq
MIRT2340068	hsa-miR-655	CLIP-seq
MIRT2395239	hsa-miR-1237	CLIP-seq
MIRT2395240	hsa-miR-1248	CLIP-seq
MIRT2395241	hsa-miR-193a-5p	CLIP-seq
MIRT2395242	hsa-miR-326	CLIP-seq
MIRT2395243	hsa-miR-330-5p	CLIP-seq
MIRT2395244	hsa-miR-942	CLIP-seq
MIRT2633952	hsa-miR-1184	CLIP-seq
MIRT2633953	hsa-miR-1207-3p	CLIP-seq
MIRT2633954	hsa-miR-1236	CLIP-seq
MIRT2395239	hsa-miR-1237	CLIP-seq
MIRT2633955	hsa-miR-1245b-5p	CLIP-seq
MIRT2633956	hsa-miR-1246	CLIP-seq
MIRT2395240	hsa-miR-1248	CLIP-seq
MIRT2633957	hsa-miR-1271	CLIP-seq
MIRT2633958	hsa-miR-1301	CLIP-seq
MIRT2633959	hsa-miR-149	CLIP-seq
MIRT2633960	hsa-miR-1913	CLIP-seq
MIRT2395241	hsa-miR-193a-5p	CLIP-seq
MIRT2633961	hsa-miR-214	CLIP-seq
MIRT1393520	hsa-miR-2861	CLIP-seq
MIRT2633962	hsa-miR-3064-5p	CLIP-seq
MIRT2633963	hsa-miR-31	CLIP-seq
MIRT2633964	hsa-miR-3142	CLIP-seq
MIRT2633965	hsa-miR-324-3p	CLIP-seq
MIRT2395242	hsa-miR-326	CLIP-seq
MIRT2395243	hsa-miR-330-5p	CLIP-seq
MIRT2633966	hsa-miR-331-3p	CLIP-seq
MIRT2633967	hsa-miR-3619-5p	CLIP-seq
MIRT2633968	hsa-miR-3672	CLIP-seq
MIRT2633969	hsa-miR-3688-5p	CLIP-seq
MIRT2633970	hsa-miR-3922-5p	CLIP-seq
MIRT2633971	hsa-miR-3937	CLIP-seq
MIRT2633972	hsa-miR-4269	CLIP-seq
MIRT2633973	hsa-miR-4292	CLIP-seq
MIRT2633974	hsa-miR-4300	CLIP-seq
MIRT2633975	hsa-miR-4463	CLIP-seq
MIRT2633976	hsa-miR-4468	CLIP-seq
MIRT2633977	hsa-miR-4487	CLIP-seq
MIRT2633978	hsa-miR-4530	CLIP-seq
MIRT2633979	hsa-miR-4540	CLIP-seq
MIRT2633980	hsa-miR-4660	CLIP-seq
MIRT2633981	hsa-miR-4663	CLIP-seq
MIRT2633982	hsa-miR-4690-5p	CLIP-seq
MIRT1393530	hsa-miR-4710	CLIP-seq
MIRT2633983	hsa-miR-4749-3p	CLIP-seq
MIRT2633984	hsa-miR-4773	CLIP-seq
MIRT1393534	hsa-miR-4792	CLIP-seq
MIRT2633985	hsa-miR-4794	CLIP-seq
MIRT2633986	hsa-miR-5047	CLIP-seq
MIRT2633987	hsa-miR-604	CLIP-seq
MIRT2633988	hsa-miR-647	CLIP-seq
MIRT2633989	hsa-miR-761	CLIP-seq
MIRT2633990	hsa-miR-892b	CLIP-seq
MIRT2633991	hsa-miR-920	CLIP-seq
MIRT2633992	hsa-miR-939	CLIP-seq
MIRT2395244	hsa-miR-942	CLIP-seq
MIRT2633993	hsa-miR-96	CLIP-seq
MIRT2633952	hsa-miR-1184	CLIP-seq
MIRT2633953	hsa-miR-1207-3p	CLIP-seq
MIRT2633955	hsa-miR-1245b-5p	CLIP-seq
MIRT2633956	hsa-miR-1246	CLIP-seq
MIRT2633958	hsa-miR-1301	CLIP-seq
MIRT2692092	hsa-miR-141	CLIP-seq
MIRT2633960	hsa-miR-1913	CLIP-seq
MIRT2692093	hsa-miR-1976	CLIP-seq
MIRT2692094	hsa-miR-200a	CLIP-seq
MIRT1393520	hsa-miR-2861	CLIP-seq
MIRT2692095	hsa-miR-296-5p	CLIP-seq
MIRT2633962	hsa-miR-3064-5p	CLIP-seq
MIRT2633963	hsa-miR-31	CLIP-seq
MIRT2633964	hsa-miR-3142	CLIP-seq
MIRT2692096	hsa-miR-3189-5p	CLIP-seq
MIRT2633965	hsa-miR-324-3p	CLIP-seq
MIRT2633969	hsa-miR-3688-5p	CLIP-seq
MIRT2633970	hsa-miR-3922-5p	CLIP-seq
MIRT2692097	hsa-miR-4270	CLIP-seq
MIRT2633974	hsa-miR-4300	CLIP-seq
MIRT2692098	hsa-miR-4441	CLIP-seq
MIRT2633979	hsa-miR-4540	CLIP-seq
MIRT2692099	hsa-miR-4633-3p	CLIP-seq
MIRT2633980	hsa-miR-4660	CLIP-seq
MIRT1393530	hsa-miR-4710	CLIP-seq
MIRT2692100	hsa-miR-4722-3p	CLIP-seq
MIRT1393541	hsa-miR-4758-3p	CLIP-seq
MIRT2633984	hsa-miR-4773	CLIP-seq
MIRT1393534	hsa-miR-4792	CLIP-seq
MIRT2692101	hsa-miR-483-3p	CLIP-seq
MIRT2633986	hsa-miR-5047	CLIP-seq
MIRT2633987	hsa-miR-604	CLIP-seq
MIRT2692102	hsa-miR-610	CLIP-seq
MIRT2633988	hsa-miR-647	CLIP-seq
MIRT2633991	hsa-miR-920	CLIP-seq
MIRT2633992	hsa-miR-939	CLIP-seq

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Transcription factor	Regulation	Reference
MYC	Activation	22547830

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003836	Function	Beta-galactoside (CMP) alpha-2,3-sialyltransferase activity	IEA
GO:0003836	Function	Beta-galactoside (CMP) alpha-2,3-sialyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS
GO:0008118	Function	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	IEA
GO:0008118	Function	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	TAS	8333853
GO:0008373	Function	Sialyltransferase activity	IBA
GO:0008373	Function	Sialyltransferase activity	IEA
GO:0008373	Function	Sialyltransferase activity	TAS
GO:0009312	Process	Oligosaccharide biosynthetic process	TAS
GO:0010706	Process	Ganglioside biosynthetic process via lactosylceramide	IEA
GO:0016020	Component	Membrane	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018146	Process	Keratan sulfate proteoglycan biosynthetic process	TAS
GO:0019082	Process	Viral protein processing	TAS
GO:0032580	Component	Golgi cisterna membrane	IEA

MIM	HGNC	e!Ensembl
606494	10866	ENSG00000126091

Q11203

Protein name

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (EC 2.4.3.6) (Beta-galactoside alpha-2,3-sialyltransferase 3) (Alpha 2,3-ST 3) (Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase) (N-acetyllactosaminide alpha-2,3-sialyltransferase

Protein function

Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest acti

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00777	Glyco_transf_29	107 → 372	Glycosyltransferase family 29 (sialyltransferase)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.

Sequence

MGLLVFVRNLLLALCLFLVLGFLYYSAWKLHLLQWEEDSNSVVLSFDSAGQTLGSEYDRL
GFLLNLDSKLPAELATKYANFSEGACKPGYASALMTAIFPRFSKPAPMFLDDSFRKWARI
REFVPPFGIKGQDNLIKAILSVTKEYRLTPALDSLRCRRCIIVGNGGVLANKSLGSRIDD
YDIVVRLNSAPVKGFEKDVGSKTTLRITYPEGAMQRPEQYERDSLFVLAGFKWQDFKWLK
YIVYKERVSASDGFWKSVATRVPKEPPEIRILNPYFIQEAAFTLIGLPFNNGLMGRGNIP
TLGSVAVTMALHGCDEVAVAGFGYDMSTPNAPLHYYETVRMAAIKESWTHNIQREKEFLR
KLVKARVITDLSSGI

Sequence length

375

Interactions

View interactions

	KEGG		Reactome
	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Glycosaminoglycan biosynthesis - keratan sulfate Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways		Keratan sulfate biosynthesis Defective ST3GAL3 causes MCT12 and EIEE15 Sialic acid metabolism Lewis blood group biosynthesis Termination of O-glycan biosynthesis

372

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aggressive behavior	Likely pathogenic	rs1201878175	RCV000993574
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs148531289, rs2077858180, rs2154197473, rs2154091891, rs1195818093, rs2154270971, rs2522893135, rs2549629250, rs1571524490, rs2527100064, rs2082857900	RCV001863204 RCV001899695 RCV001922497 RCV002018779 RCV001994497 RCV001928129 RCV002829514 RCV002957222 RCV002962288 RCV003589677 RCV003754424 RCV001296941
Developmental and epileptic encephalopathy, 15	Likely pathogenic; Pathogenic	rs148531289, rs200255759, rs1195818093, rs1557563410, rs201204481, rs1387140766	RCV001329554 RCV001823465 RCV003224596 RCV000032792 RCV001290011 RCV002464440
Difficulty walking	Likely pathogenic	rs1201878175	RCV000993574
Frequent falls	Likely pathogenic	rs1201878175	RCV000993574
Intellectual disability, autosomal recessive 12	Likely pathogenic; Pathogenic	rs1195818093, rs387906943, rs1557612719, rs1201878175, rs1387140766	RCV003224596 RCV000023551 RCV000023552 RCV001290010 RCV001549282
Prolonged neonatal jaundice	Likely pathogenic	rs1201878175	RCV000993574
Severe intellectual disability	Likely pathogenic	rs1201878175	RCV000993574

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs759128744	RCV005899903
Colon adenocarcinoma	Uncertain significance	rs2077864900	RCV005909267
Developmental and epileptic encephalopathy, 1	Uncertain significance	rs1448699021	RCV000784977
Epilepsy due to perinatal stroke	Conflicting classifications of pathogenicity	rs745451424	RCV000678852
Familial cancer of breast	Benign	rs112394294	RCV005918694
Generalized myoclonic seizure	Uncertain significance	rs201287443	RCV000678851
Hepatocellular carcinoma	Uncertain significance	rs2077864900	RCV005909268
Intellectual disability	Uncertain significance	rs767108992, rs2077864900, rs2077936349	RCV001252110 RCV001260807 RCV001260832
Lung cancer	Benign	rs112394294	RCV005918697
Lymphoma	Uncertain significance	rs370838456	RCV005899905
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs113954699	RCV005892394
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs112394294, rs745451424	RCV005918695 RCV005899904
ST3GAL3-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs553120567, rs368686280, rs147330005, rs201204481, rs773763812, rs79359958, rs1393138239, rs367926299, rs149000966	RCV003975045 RCV003923568 RCV003917631 RCV004757974 RCV003917775 RCV003906687 RCV003939200 RCV003941581 RCV003965717
Thymoma	Benign	rs112394294	RCV005918696

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	22959728
Arthritis Rheumatoid	Associate	36405992
Attention Deficit Disorder with Hyperactivity	Associate	27217153
Attention Deficit Disorder with Hyperactivity	Stimulate	32366953
Breast Neoplasms	Associate	12841680
Carcinoma Pancreatic Ductal	Associate	32872308
Cataract Age Related Nuclear	Associate	34954695
Colorectal Neoplasms	Associate	10673297
Inflammation	Associate	36405992
Intellectual Disability	Associate	21907012, 27217153
Meningioma	Associate	34943806, 38274327
Mental Disorders	Associate	36746102
Mental Retardation Autosomal Recessive 1	Associate	21907012
Neoplasm Invasiveness	Inhibit	36172711
Ovarian Neoplasms	Associate	19415457, 31702036
Pancreatic Neoplasms	Associate	24878505
Prostatic Neoplasms	Associate	22347453, 25137483
Schizophrenia	Stimulate	32366953
Stomach Neoplasms	Associate	36172711

ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)