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Q9UNP4 (SIAT9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ST3GAL5
Synonyms:SIAT9
ORF Names:UNQ2510/PRO5998
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length418 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

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.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein Potential.

Tissue specificity

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

Post-translational modification

N-glycosylated. Ref.4

Involvement in disease

Amish infantile epilepsy syndrome (AIES) [MIM:609056]: An autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the glycosyltransferase 29 family.

Sequence caution

The sequence AAD14634.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAF66146.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAQ89463.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAY24147.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAA33950.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UNP4-1)

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.
Isoform 2 (identifier: Q9UNP4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.
Isoform 3 (identifier: Q9UNP4-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 418418Lactosylceramide alpha-2,3-sialyltransferase
PRO_0000149302

Regions

Topological domain1 – 6161Cytoplasmic Potential
Transmembrane62 – 8221Helical; Signal-anchor for type II membrane protein; Potential
Topological domain83 – 418336Lumenal Potential

Amino acid modifications

Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation2361N-linked (GlcNAc...) Potential
Glycosylation3901N-linked (GlcNAc...) Potential
Disulfide bond195 ↔ 353 By similarity

Natural variations

Alternative sequence1 – 2828Missing in isoform 2.
VSP_033686
Alternative sequence1 – 2323Missing in isoform 3.
VSP_033687
Alternative sequence24 – 285PAGRA → MASVP in isoform 3.
VSP_033688
Natural variant1041H → R. Ref.1 Ref.2 Ref.8
Corresponds to variant rs3731824 [ dbSNP | Ensembl ].
VAR_025510

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 20, 2008. Version 4.
Checksum: B423540B31C27A8A

FASTA41847,990
        10         20         30         40         50         60 
MRTKAAGCAE RRPLQPRTEA AAAPAGRAMP SEYTYVKLRS DCSRPSLQWY TRAQSKMRRP 

        70         80         90        100        110        120 
SLLLKDILKC TLLVFGVWIL YILKLNYTTE ECDMKKMHYV DPDHVKRAQK YAQQVLQKEC 

       130        140        150        160        170        180 
RPKFAKTSMA LLFEHRYSVD LLPFVQKAPK DSEAESKYDP PFGFRKFSSK VQTLLELLPE 

       190        200        210        220        230        240 
HDLPEHLKAK TCRRCVVIGS GGILHGLELG HTLNQFDVVI RLNSAPVEGY SEHVGNKTTI 

       250        260        270        280        290        300 
RMTYPEGAPL SDLEYYSNDL FVAVLFKSVD FNWLQAMVKK ETLPFWVRLF FWKQVAEKIP 

       310        320        330        340        350        360 
LQPKHFRILN PVIIKETAFD ILQYSEPQSR FWGRDKNVPT IGVIAVVLAT HLCDEVSLAG 

       370        380        390        400        410 
FGYDLNQPRT PLHYFDSQCM AAMNFQTMHN VTTETKFLLK LVKEGVVKDL SGGIDREF 

« Hide

Isoform 2 [UniParc].

Checksum: 30EC0B46B4C29DBF
Show »

FASTA39045,099
Isoform 3 [UniParc].

Checksum: 961126EE86517F66
Show »

FASTA39545,585

References

« Hide 'large scale' references
[1]"Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase."
Ishii A., Ohta M., Watanabe Y., Matsuda K., Ishiyama K., Sakoe K., Nakamura M., Inokuchi J., Sanai Y., Saito M.
J. Biol. Chem. 273:31652-31655(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-104, CHARACTERIZATION.
[2]"Molecular cloning and expression of ceramide galactosyltransferases. Comparison with other glycosyltransferases."
Kapitonov D.
Thesis (1999), Medical College of Viriginia, United States
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-104.
Tissue: Brain.
[3]"Molecular cloning of CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase cDNA from human fetal brain."
Kim K.-W., Kim K.-S., Do S.-I., Kim C.-H., Lee Y.-C.
Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Fetal brain.
[4]"Human GM3 synthase: a new mRNA variant encodes an NH2-terminal extended form of the protein."
Berselli P., Zava S., Sottocornola E., Milani S., Berra B., Colombo I.
Biochim. Biophys. Acta 1759:348-358(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, GLYCOSYLATION.
Tissue: Placenta.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-104.
Tissue: Skin.
[9]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-418 (ISOFORM 1).
[10]"Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase."
Simpson M.A., Cross H., Proukakis C., Priestman D.A., Neville D.C.A., Reinkensmeier G., Wang H., Wiznitzer M., Gurtz K., Verganelaki A., Pryde A., Patton M.A., Dwek R.A., Butters T.D., Platt F.M., Crosby A.H.
Nat. Genet. 36:1225-1229(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AIES.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1986.2. [Q9UNP4-1]
CCDS42705.1. [Q9UNP4-3]
RefSeqNP_001035902.1. NM_001042437.1. [Q9UNP4-3]
NP_003887.3. NM_003896.3. [Q9UNP4-1]
UniGeneHs.415117.

3D structure databases

ProteinModelPortalQ9UNP4.
SMRQ9UNP4. Positions 191-393.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000366549.

Protein family/group databases

CAZyGT29. Glycosyltransferase Family 29.

PTM databases

PhosphoSiteQ9UNP4.

Polymorphism databases

DMDM189047140.

Proteomic databases

MaxQBQ9UNP4.
PaxDbQ9UNP4.
PRIDEQ9UNP4.

Protocols and materials databases

DNASU8869.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377332; ENSP00000366549; ENSG00000115525. [Q9UNP4-1]
ENST00000393805; ENSP00000377394; ENSG00000115525. [Q9UNP4-2]
ENST00000393808; ENSP00000377397; ENSG00000115525. [Q9UNP4-3]
GeneID8869.
KEGGhsa:8869.
UCSCuc002sqp.1. human. [Q9UNP4-3]
uc002sqq.1. human. [Q9UNP4-1]

Organism-specific databases

CTD8869.
GeneCardsGC02M086066.
HGNCHGNC:10872. ST3GAL5.
HPAHPA034708.
HPA040425.
MIM604402. gene.
609056. phenotype.
neXtProtNX_Q9UNP4.
Orphanet171714. Amish infantile epilepsy syndrome.
370938. Salt-and-pepper syndrome.
PharmGKBPA35773.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG257001.
HOVERGENHBG056676.
InParanoidQ9UNP4.
KOK03370.
OMAFFWKQVA.
PhylomeDBQ9UNP4.
TreeFamTF352819.

Enzyme and pathway databases

BRENDA2.4.99.9. 2681.
ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ9UNP4.
BgeeQ9UNP4.
CleanExHS_ST3GAL5.
GenevestigatorQ9UNP4.

Family and domain databases

InterProIPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
[Graphical view]
PfamPF00777. Glyco_transf_29. 1 hit.
[Graphical view]
PIRSFPIRSF005557. Sialyl_trans. 1 hit.
ProtoNetSearch...

Other

GeneWikiST3GAL5.
GenomeRNAi8869.
NextBio33295.
PROQ9UNP4.
SOURCESearch...

Entry information

Entry nameSIAT9_HUMAN
AccessionPrimary (citable) accession number: Q9UNP4
Secondary accession number(s): B3KM82 expand/collapse secondary AC list , D6W5L9, O94902, Q53QU1, Q6NZX4, Q6YFL1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: May 20, 2008
Last modified: July 9, 2014
This is version 119 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM