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Protein

Lactosylceramide alpha-2,3-sialyltransferase

Gene

ST3GAL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: Reactome
  • 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

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS03904-MONOMER
BRENDAi2.4.99.9 2681
ReactomeiR-HSA-4085001 Sialic acid metabolism
SIGNORiQ9UNP4

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

EuPathDBiHostDB:ENSG00000115525.16
HGNCiHGNC:10872 ST3GAL5
MIMi604402 gene
neXtProtiNX_Q9UNP4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Salt and pepper developmental regression syndrome (SPDRS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.
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

Chemistry databases

DrugBankiDB05867 99mTc-14 F7 Mab

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...) asparagineSequence analysis1
Disulfide bondi195 ↔ 353By similarity
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi390N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UNP4
PeptideAtlasiQ9UNP4
PRIDEiQ9UNP4

PTM databases

iPTMnetiQ9UNP4
PhosphoSitePlusiQ9UNP4
SwissPalmiQ9UNP4

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
SMRiQ9UNP4
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
OMAiYKYDPPF
OrthoDBiEOG091G098L
PhylomeDBiQ9UNP4
TreeFamiTF352819

Family and domain databases

Gene3Di3.90.1480.20, 1 hit
InterProiView protein in InterPro
IPR001675 Glyco_trans_29
IPR038578 GT29-like_sf
IPR012163 Sialyl_trans
PfamiView protein in Pfam
PF00777 Glyco_transf_29, 1 hit
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 → R3 PublicationsCorresponds to variant dbSNP:rs1138484EnsemblClinVar.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

EnsembliENST00000393805; ENSP00000377394; ENSG00000115525 [Q9UNP4-2]
ENST00000393808; ENSP00000377397; ENSG00000115525 [Q9UNP4-3]
ENST00000638572; ENSP00000491316; ENSG00000115525 [Q9UNP4-1]
ENST00000638986; ENSP00000491853; ENSG00000115525 [Q9UNP4-2]
ENST00000639432; ENSP00000491828; ENSG00000115525 [Q9UNP4-2]
ENST00000640322; ENSP00000491564; ENSG00000115525 [Q9UNP4-2]
ENST00000640982; ENSP00000492299; ENSG00000115525 [Q9UNP4-2]
ENST00000640992; ENSP00000492753; ENSG00000115525 [Q9UNP4-2]
GeneIDi8869
KEGGihsa:8869
UCSCiuc002sqp.2 human [Q9UNP4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSIAT9_HUMAN
AccessioniPrimary (citable) accession number: Q9UNP4
Secondary accession number(s): B3KM82
, D6W5L9, O94902, Q53QU1, Q6NZX4, Q6YFL1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: May 20, 2008
Last modified: May 23, 2018
This is version 152 of the entry and version 4 of the sequence. See 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

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