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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ST3GAL5 Gene

protein-coding GIFtS: 57
GCID: GC02M086066

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

(Previous name: sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase;...)
(Previous symbol: SIAT9)

Explore 10 diseases affiliated with
ST3GAL5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5¹ ²		EC 2.4.99.9³ ⁸
SIAT9¹ ² ³ ⁵		SATI²
ST3GalV¹ ² ³		Alpha 2,3-Sialyltransferase V²
SIATGM3S¹ ²		GM3 Synthase²
Sialyltransferase 9 (CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase; GM3 Synthase)¹ ²		Lactosylceramide Alpha-2,3-Sialyltransferase²
Ganglioside GM3 Synthase² ³		Sialyltransferase 9³
CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase² ³		ST3GALV⁵
ST3Gal V² ³

External Ids:	HGNC: 10872¹	Entrez Gene: 8869²	Ensembl: ENSG00000115525⁷	OMIM: 604402⁵	UniProtKB: Q9UNP4³

Export aliases for ST3GAL5 gene to outside databases

Previous GC identifers: GC02M085978 GC02M085919 GC02M085963

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ST3GAL5:

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation,

maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by

this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate.

The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation

in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different

isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4

Function: Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,

4-beta-D-glucosylceramide)

Gene Wiki entry for ST3GAL5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ST3GAL5 gene promoter:
STAT1 STAT1beta STAT1alpha CREB AREB6 MEF-2A deltaCREB aMEF-2 ATF RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ST3GAL5 promoter sequence

Search SABiosciences Chromatin IP Primers for ST3GAL5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ST3GAL5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p11.2 Ensembl cytogenetic band: 2p11.2 HGNC cytogenetic band: 2p11.2

ST3GAL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ST3GAL5 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M086066: view genomic region (about GC identifiers)

Start:	86,066,267 bp from pter	End:	86,116,157 bp from pter
Size:	49,891 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4 (See protein sequence)

Recommended Name: Lactosylceramide alpha-2,3-sialyltransferase

Size: 418 amino acids; 47990 Da

Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)

Sequence caution: Sequence=AAD14634.1; Type=Erroneous initiation; Sequence=AAF66146.1; Type=Erroneous initiation;

Sequence=AAQ89463.1; Type=Erroneous initiation; Sequence=AAY24147.1; Type=Erroneous gene model prediction;

Sequence=BAA33950.1; Type=Erroneous initiation;

Secondary accessions: B3KM82 D6W5L9 O94902 Q53QU1 Q6NZX4 Q6YFL1

Alternative splicing: 3 isoforms: Q9UNP4-1 Q9UNP4-2 Q9UNP4-3

Explore the universe of human proteins at neXtProt for ST3GAL5: NX_Q9UNP4

Post-translational modifications:

N-glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UNP4

4/7 DME Specific Peptides for ST3GAL5 (Q9UNP4) (see all 7)

DVVIRLN

MHNVTTET

VLFKSVDF

QPRTPLHYFD

ST3GAL5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035902.1 NP_003887.3

ENSEMBL proteins:

ENSP00000377397 ENSP00000377394 ENSP00000366549 ENSP00000306247 ENSP00000401375

ENSP00000408635 ENSP00000433607

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	Uscn Proteins for ST3GAL5

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	NAS	9822625
GO:0005887	integral to plasma membrane	TAS	9822625
GO:0016021	integral to membrane	TAS	10092602
GO:0030173	integral to Golgi membrane	IEA	--

ST3GAL5 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ST3GAL5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ST3GAL5 for domains About GeneDecksing

2 InterPro domains/families:

IPR001675 Glyco_trans_29

IPR012163 Sialyl_trans

Graphical View of Domain Structure for InterPro Entry Q9UNP4

ProtoNet protein and cluster: Q9UNP4

1 Blocks protein family: IPB001675 Glycosyl transferase

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4

Similarity: Belongs to the glycosyltransferase 29 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4

Function: Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,

4-beta-D-glucosylceramide)

Catalytic activity: CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = CMP +

alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide

Enzyme Number (IUBMB): EC 2.4.99.9¹ ²

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		SwitchGear 3'UTR luciferase reporter plasmid: ST3GAL5 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ST3GAL5

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004513	neolactotetraosylceramide alpha-2,3-sialyltransferase activity	TAS	9822625
GO:0008373	sialyltransferase activity	TAS	10092602
GO:0016757	transferase activity, transferring glycosyl groups	--	--
GO:0047291	lactosylceramide alpha-2,3-sialyltransferase activity	IDA	9822625

ST3GAL5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ST3GAL5:

Decreased p24 protein expressi

Animal Models:
Mouse knock-out St3gal5^tm1Rlp for ST3GAL5
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for St3gal5):

endocrine/exocrine gland

homeostasis/metabolism

ST3GAL5 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ganglio Sphingolipid Metabolism

Ganglio Sphingolipid Metabolism

1.00

Glycosphingolipid biosynthesis - ganglio series

0.53

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for ST3GAL5

Ganglio Sphingolipid Metabolism

2 Kegg Pathways (Kegg details for ST3GAL5):

	Glycosphingolipid biosynthesis - ganglio series
	Metabolic pathways

ST3GAL5 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ST3GAL5

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for ST3GAL5 (ENSP00000366549⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B4GALNT1	ENSP00000341562⁴	STRING: ENSP00000341562
HEXB	ENSP00000261416⁴	STRING: ENSP00000261416
ST8SIA1	ENSP00000379353⁴	STRING: ENSP00000379353
HEXA	ENSP00000268097⁴	STRING: ENSP00000268097
B4GALT6	ENSP00000306459⁴	STRING: ENSP00000306459

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001574	ganglioside biosynthetic process	NAS	9822625
GO:0005975	carbohydrate metabolic process	TAS	9822625
GO:0006486	protein glycosylation	IEA	--
GO:0006688	glycosphingolipid biosynthetic process	TAS	10092602

ST3GAL5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ST3GAL5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ST3GAL5

10/106 HMDB Compounds for ST3GAL5 (see all 106) About this table

Compound	CAS #	PubMed Ids
Ganglioside GM1 (d18:0/12:0)	--	12486725
Ganglioside GM1 (d18:0/14:0)	--	12486725
Ganglioside GM1 (d18:0/16:0)	--	12486725
Ganglioside GM1 (d18:0/18:0)	--	12486725
Ganglioside GM1 (d18:0/18:1(11Z))	--	12486725
Ganglioside GM1 (d18:0/18:1(9Z))	--	12486725
Ganglioside GM1 (d18:0/20:0)	--	12486725
Ganglioside GM1 (d18:0/22:0)	--	12486725
Ganglioside GM1 (d18:0/22:1(13Z))	--	12486725
Ganglioside GM1 (d18:0/23:0)	--	12486725

1 Novoseek chemical compound relationship for ST3GAL5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ganglioside	78.8	4	17050284 (2), 9822625 (1), 15385432 (1)

Search CenterWatch for drugs/clinical trials and news about ST3GAL5 / SIAT9

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ST3GAL5 gene (2 alternative transcripts):

NM_001042437.1 NM_003896.3

Unigene Cluster for ST3GAL5:

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Hs.415117 [show with all ESTs]

Unigene Representative Sequence: AK127346

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000393808(uc010fgq.1 uc002sqp.1) ENST00000393805 ENST00000377332(uc002sqq.1)

ENST00000461206 ENST00000306262 ENST00000455892 ENST00000433665 ENST00000487896

ENST00000473122 ENST00000461892 ENST00000461199 ENST00000484728 ENST00000490946

ENST00000525834(uc010ysy.1 uc010ysz.1)

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		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate ST3GAL5 (see all 28):
		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-495 hsa-miR-520d-5p hsa-miR-200a hsa-miR-302e hsa-miR-373*

		SwitchGear 3'UTR luciferase reporter plasmid: ST3GAL5 3' UTR sequence

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Additional cDNA sequence:

AB018356.1 AF105026.1 AF119415.1 AF119418.1 AF161396.1 AF344831.1 AF344832.1 AK001340.1

AK124862.1 AK127346.1 AK295252.1 AK315955.1 AY152815.2 AY359105.1 BC009887.2 BC065936.1

18 DOTS entries:

DT.444768 DT.101983500 DT.92432880 DT.95257372 DT.101983499 DT.70102438 DT.120937211 DT.40193961

DT.92022367 DT.97801418 DT.120937224 DT.92432878 DT.100730983 DT.120937193 DT.120937244 DT.75180100

DT.95177964 DT.97798513

24/195 AceView cDNA sequences (see all 195):

AK124862 CA426072 AA604937 BM687545 BM693128 BC009887 AB018356 AW418970

CA503200 AI767929 BE501262 AI150920 AK001340 CA309703 BQ343876 CA444959

AW771385 BI768039 CB053451 CN479441 AI656692 BX641444 AW241555 AI089834

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ST3GAL5 (see all 12) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	·	8c	^	9a	·	9b	^	10a	·	10b	·	10c	·	10d	^	11	^	12a	·	12b	^	13	^	14a	·	14b	·
SP1:																					-		-		-		-		-		-		-								-
SP2:					-		-		-		-										-		-		-		-		-		-		-								-
SP3:									-		-										-		-		-		-		-		-		-								-
SP4:																					-		-		-								-								-						-
SP5:																													-		-		-								-

ExUns:	14c	·	14d
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ST3GAL5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ST3GAL5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGAGTACA

About this image

ST3GAL5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Kidney

Glomerulus

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

See ST3GAL5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ST3GAL5

SOURCE GeneReport for Unigene cluster: Hs.415117

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4

Tissue specificity: Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis

SABiosciences Expression via Pathway-Focused PCR Array including ST3GAL5:

Antifungal Response in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for ST3GAL5 gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ST3GAL5¹	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	72.56(n) 69.89(a)		407775 NM_001001192.1 NP_001001192.1
lizard (Anolis carolinensis)	Reptilia	ST3GAL5⁶	--	65(a)	1 ↔ 1	GL343395.1(817843-830957)
zebrafish (Danio rerio)	Actinopterygii	st3gal5¹	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	53.06(n) 48.42(a)		394230 NM_199516.2 NP_955810.2

ENSEMBL Gene Tree for ST3GAL5 (if available)
TreeFam Gene Tree for ST3GAL5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ST3GAL5 gene

ST3GAL3² ST6GALNAC1² ST3GAL6² ST6GALNAC2² ST3GAL1² ST3GAL4² ST3GAL2²

5 SIMAP similar genes for ST3GAL5 using alignment to 5 protein entries: SIAT9_HUMAN (see all proteins):

ST3GAL3 ST3GalIII SIAT4C ST3GAL4 ST3GAL6

ST3GAL5 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for ST3GAL5
PGOHUM00000235182

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893668^1,2	C,F	pathogenic	86071665(-)	`GGGTAC/TGACTC`	4	R *	stg¹		2		NA EU	5843
rs77889092^1,2	F,	--	86065802(+)	`TATGAC/GCTGAC`	2	--	ds500¹		1		WA	118
rs146056252^1,2		--	86065997(+)	`GGAAC-/AGAGTAG`	2	--	ds500¹		0	--	--	--	--
rs182533319^1,2		--	86066082(+)	`CCACCA/GACACC`	2	--	ds500¹		0	--	--	--	--
rs78017539^1,2	F,	--	86066098(+)	`TCTCTT/CCAGAA`	2	--	ds500¹		1		WA	118
rs74491973^1,2	F,	--	86066100(+)	`TCTTCA/TGAAGG`	2	--	ds500¹		1		NA	120
rs185768141^1,2		--	86066107(+)	`AAGGGC/TTCACA`	2	--	ds500¹		0	--	--	--	--
rs190533285^1,2		--	86066123(+)	`CTGGAC/TTCAAG`	2	--	ds500¹		0	--	--	--	--
rs150643987^1,2		--	86066146(+)	`CCAGGC/TGCCTT`	2	--	ds500¹		0	--	--	--	--
rs1000374^1,2	C,F,O,H,	--	86066173(+)	`CTACTG/AGCATC`	2	--	ds500¹		17		NA EA MN NS	2268

HapMap Linkage Disequilibrium report for ST3GAL5 (86066267 - 86116157 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ST3GAL5: --
Human Gene Mutation Database (HGMD): ST3GAL5

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ST3GAL5 for disorders           About GeneDecksing

OMIM gene information: 604402
OMIM disorders: 609056
UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4

Defects in ST3GAL5 are the cause of Amish infantile epilepsy syndrome (AIES) [MIM:609056]. AIES is an

autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness

10 diseases for ST3GAL5: About MalaCards

amish infantile epilepsy syndrome epilepsy syndrome nephronopthisis acute leukemia

ovarian carcinoma ovarian cancer blindness leukemia

retinitis carcinoma

Human Genome Epidemiology (HuGE) Navigator: ST3GAL5 (3 documents)

Export disorders for ST3GAL5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ST3GAL5 gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with ST3GAL5)

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Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase. (PubMed id 9822625)^{1, 2, 3, 9} Ishii A.... Saito M. (1998)
Human GM3 synthase: a new mRNA variant encodes an NH2-terminal extended form of the protein. (PubMed id 16934889)^{1, 2} Berselli P....Colombo I. (2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. (PubMed id 15502825)^{1, 2} Simpson M.A....Crosby A.H. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
Elevated mRNA level of hST6Gal I and hST3Gal V positi vely correlates with the high risk of pediatric acute leukemia. (PubMed id 19709745)^{1, 9} Mondal S....Mandal C. (2010)
Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. (PubMed id 18480157)^{1, 9} Liu Y....Ladisch S. (2008)
Molecular mechanism for transcriptional activation of ganglioside GM3 synthase and its function in differentiation of HL-60 cells. (PubMed id 15385432)^{1, 9} Chung T.W....Kim C.H. (2005)
Combinatorial PCR approach to homology-based cloning: cloning and expression of mouse and human GM3-synthase. (PubMed id 10619706)^{1, 9} Kapitonov D....Yu R.K. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8869	HGNC: 10872	AceView: SIAT9	Ensembl:ENSG00000115525	euGenes: HUgn8869
ECgene: ST3GAL5	Kegg: 8869	H-InvDB: ST3GAL5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ST3GAL5	Pharmacogenomics, SNPs, Pathways
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST3GAL5
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_626

Intellectual Property for ST3GAL5 gene
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Patent Information for ST3GAL5 gene:
Search GeneIP for patents involving ST3GAL5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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ST3GAL5 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

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ST3GAL5 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

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