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Protein

Lactosylceramide alpha-2,3-sialyltransferase

Gene

ST3GAL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).1 Publication

Catalytic activityi

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.

GO - Molecular functioni

  • beta-galactoside (CMP) alpha-2,3-sialyltransferase activity Source: GO_Central
  • lactosylceramide alpha-2,3-sialyltransferase activity Source: UniProtKB
  • neolactotetraosylceramide alpha-2,3-sialyltransferase activity Source: ProtInc
  • sialyltransferase activity Source: ProtInc

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • ganglioside biosynthetic process Source: UniProtKB
  • glycosphingolipid biosynthetic process Source: ProtInc
  • oligosaccharide metabolic process Source: GO_Central
  • protein N-linked glycosylation via asparagine Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:HS03904-MONOMER.
BRENDAi2.4.99.9. 2681.
ReactomeiR-HSA-4085001. Sialic acid metabolism.

Protein family/group databases

CAZyiGT29. Glycosyltransferase Family 29.

Chemistry databases

SwissLipidsiSLP:000000751. [Q9UNP4-3]
SLP:000000776.
SLP:000000868.
SLP:000000877. [Q9UNP4-3]

Names & Taxonomyi

Protein namesi
Recommended name:
Lactosylceramide alpha-2,3-sialyltransferase (EC:2.4.99.9)
Alternative name(s):
CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase
Ganglioside GM3 synthase
ST3Gal V
Short name:
ST3GalV
Sialyltransferase 9
Gene namesi
Name:ST3GAL5
Synonyms:SIAT9
ORF Names:UNQ2510/PRO5998
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10872. ST3GAL5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 61CytoplasmicSequence analysisAdd BLAST61
Transmembranei62 – 82Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini83 – 418LumenalSequence analysisAdd BLAST336

GO - Cellular componenti

  • Golgi membrane Source: UniProtKB
  • integral component of Golgi membrane Source: InterPro
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Amish infantile epilepsy syndrome (AIES)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness.
See also OMIM:609056

Keywords - Diseasei

Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi8869.
MalaCardsiST3GAL5.
MIMi609056. phenotype.
OpenTargetsiENSG00000115525.
Orphaneti171714. Amish infantile epilepsy syndrome.
370938. Salt-and-pepper syndrome.
PharmGKBiPA35773.

Polymorphism and mutation databases

BioMutaiST3GAL5.
DMDMi189047140.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001493021 – 418Lactosylceramide alpha-2,3-sialyltransferaseAdd BLAST418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi86N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi195 ↔ 353By similarity
Glycosylationi236N-linked (GlcNAc...)Sequence analysis1
Glycosylationi390N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UNP4.
PeptideAtlasiQ9UNP4.
PRIDEiQ9UNP4.

PTM databases

iPTMnetiQ9UNP4.
PhosphoSitePlusiQ9UNP4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000115525.
CleanExiHS_ST3GAL5.
ExpressionAtlasiQ9UNP4. baseline and differential.
GenevisibleiQ9UNP4. HS.

Organism-specific databases

HPAiHPA034708.
HPA040425.
HPA068928.

Interactioni

Protein-protein interaction databases

BioGridi114389. 3 interactors.
STRINGi9606.ENSP00000366549.

Structurei

3D structure databases

ProteinModelPortaliQ9UNP4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 29 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2692. Eukaryota.
ENOG410XT8P. LUCA.
GeneTreeiENSGT00760000119095.
HOVERGENiHBG056676.
InParanoidiQ9UNP4.
KOiK03370.
OMAiHLKAKSC.
OrthoDBiEOG091G098L.
PhylomeDBiQ9UNP4.
TreeFamiTF352819.

Family and domain databases

InterProiIPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
[Graphical view]
PfamiPF00777. Glyco_transf_29. 1 hit.
[Graphical view]
PIRSFiPIRSF005557. Sialyl_trans. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UNP4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRTKAAGCAE RRPLQPRTEA AAAPAGRAMP SEYTYVKLRS DCSRPSLQWY
60 70 80 90 100
TRAQSKMRRP SLLLKDILKC TLLVFGVWIL YILKLNYTTE ECDMKKMHYV
110 120 130 140 150
DPDHVKRAQK YAQQVLQKEC RPKFAKTSMA LLFEHRYSVD LLPFVQKAPK
160 170 180 190 200
DSEAESKYDP PFGFRKFSSK VQTLLELLPE HDLPEHLKAK TCRRCVVIGS
210 220 230 240 250
GGILHGLELG HTLNQFDVVI RLNSAPVEGY SEHVGNKTTI RMTYPEGAPL
260 270 280 290 300
SDLEYYSNDL FVAVLFKSVD FNWLQAMVKK ETLPFWVRLF FWKQVAEKIP
310 320 330 340 350
LQPKHFRILN PVIIKETAFD ILQYSEPQSR FWGRDKNVPT IGVIAVVLAT
360 370 380 390 400
HLCDEVSLAG FGYDLNQPRT PLHYFDSQCM AAMNFQTMHN VTTETKFLLK
410
LVKEGVVKDL SGGIDREF
Length:418
Mass (Da):47,990
Last modified:May 20, 2008 - v4
Checksum:iB423540B31C27A8A
GO
Isoform 2 (identifier: Q9UNP4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:390
Mass (Da):45,099
Checksum:i30EC0B46B4C29DBF
GO
Isoform 3 (identifier: Q9UNP4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.
     24-28: PAGRA → MASVP

Show »
Length:395
Mass (Da):45,585
Checksum:i961126EE86517F66
GO

Sequence cautioni

The sequence AAD14634 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAF66146 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAQ89463 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAY24147 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA33950 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025510104H → R.3 PublicationsCorresponds to variant rs3731824dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0336861 – 28Missing in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_0336871 – 23Missing in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_03368824 – 28PAGRA → MASVP in isoform 3. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018356 mRNA. Translation: BAA33950.1. Different initiation.
AF119415 mRNA. Translation: AAF66146.1. Different initiation.
AY152815 mRNA. Translation: AAO16866.2.
AF105026 mRNA. Translation: AAD14634.1. Different initiation.
AK001340 mRNA. Translation: BAG50894.1.
AC105053 Genomic DNA. Translation: AAY24147.1. Sequence problems.
CH471053 Genomic DNA. Translation: EAW99475.1.
CH471053 Genomic DNA. Translation: EAW99479.1.
BC065936 mRNA. Translation: AAH65936.2.
AY359105 mRNA. Translation: AAQ89463.1. Different initiation.
CCDSiCCDS1986.2. [Q9UNP4-1]
CCDS42705.1. [Q9UNP4-3]
RefSeqiNP_001035902.1. NM_001042437.1. [Q9UNP4-3]
NP_003887.3. NM_003896.3. [Q9UNP4-1]
UniGeneiHs.415117.

Genome annotation databases

EnsembliENST00000377332; ENSP00000366549; ENSG00000115525. [Q9UNP4-1]
ENST00000393805; ENSP00000377394; ENSG00000115525. [Q9UNP4-2]
ENST00000393808; ENSP00000377397; ENSG00000115525. [Q9UNP4-3]
GeneIDi8869.
KEGGihsa:8869.
UCSCiuc002sqp.2. human. [Q9UNP4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

ST3Gal V

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018356 mRNA. Translation: BAA33950.1. Different initiation.
AF119415 mRNA. Translation: AAF66146.1. Different initiation.
AY152815 mRNA. Translation: AAO16866.2.
AF105026 mRNA. Translation: AAD14634.1. Different initiation.
AK001340 mRNA. Translation: BAG50894.1.
AC105053 Genomic DNA. Translation: AAY24147.1. Sequence problems.
CH471053 Genomic DNA. Translation: EAW99475.1.
CH471053 Genomic DNA. Translation: EAW99479.1.
BC065936 mRNA. Translation: AAH65936.2.
AY359105 mRNA. Translation: AAQ89463.1. Different initiation.
CCDSiCCDS1986.2. [Q9UNP4-1]
CCDS42705.1. [Q9UNP4-3]
RefSeqiNP_001035902.1. NM_001042437.1. [Q9UNP4-3]
NP_003887.3. NM_003896.3. [Q9UNP4-1]
UniGeneiHs.415117.

3D structure databases

ProteinModelPortaliQ9UNP4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114389. 3 interactors.
STRINGi9606.ENSP00000366549.

Chemistry databases

SwissLipidsiSLP:000000751. [Q9UNP4-3]
SLP:000000776.
SLP:000000868.
SLP:000000877. [Q9UNP4-3]

Protein family/group databases

CAZyiGT29. Glycosyltransferase Family 29.

PTM databases

iPTMnetiQ9UNP4.
PhosphoSitePlusiQ9UNP4.

Polymorphism and mutation databases

BioMutaiST3GAL5.
DMDMi189047140.

Proteomic databases

PaxDbiQ9UNP4.
PeptideAtlasiQ9UNP4.
PRIDEiQ9UNP4.

Protocols and materials databases

DNASUi8869.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377332; ENSP00000366549; ENSG00000115525. [Q9UNP4-1]
ENST00000393805; ENSP00000377394; ENSG00000115525. [Q9UNP4-2]
ENST00000393808; ENSP00000377397; ENSG00000115525. [Q9UNP4-3]
GeneIDi8869.
KEGGihsa:8869.
UCSCiuc002sqp.2. human. [Q9UNP4-1]

Organism-specific databases

CTDi8869.
DisGeNETi8869.
GeneCardsiST3GAL5.
HGNCiHGNC:10872. ST3GAL5.
HPAiHPA034708.
HPA040425.
HPA068928.
MalaCardsiST3GAL5.
MIMi604402. gene.
609056. phenotype.
neXtProtiNX_Q9UNP4.
OpenTargetsiENSG00000115525.
Orphaneti171714. Amish infantile epilepsy syndrome.
370938. Salt-and-pepper syndrome.
PharmGKBiPA35773.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2692. Eukaryota.
ENOG410XT8P. LUCA.
GeneTreeiENSGT00760000119095.
HOVERGENiHBG056676.
InParanoidiQ9UNP4.
KOiK03370.
OMAiHLKAKSC.
OrthoDBiEOG091G098L.
PhylomeDBiQ9UNP4.
TreeFamiTF352819.

Enzyme and pathway databases

BioCyciZFISH:HS03904-MONOMER.
BRENDAi2.4.99.9. 2681.
ReactomeiR-HSA-4085001. Sialic acid metabolism.

Miscellaneous databases

ChiTaRSiST3GAL5. human.
GeneWikiiST3GAL5.
GenomeRNAii8869.
PROiQ9UNP4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115525.
CleanExiHS_ST3GAL5.
ExpressionAtlasiQ9UNP4. baseline and differential.
GenevisibleiQ9UNP4. HS.

Family and domain databases

InterProiIPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
[Graphical view]
PfamiPF00777. Glyco_transf_29. 1 hit.
[Graphical view]
PIRSFiPIRSF005557. Sialyl_trans. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSIAT9_HUMAN
AccessioniPrimary (citable) accession number: Q9UNP4
Secondary accession number(s): B3KM82
, D6W5L9, O94902, Q53QU1, Q6NZX4, Q6YFL1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: May 20, 2008
Last modified: November 2, 2016
This is version 141 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.