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Q9UNP4

- SIAT9_HUMAN

UniProt

Q9UNP4 - SIAT9_HUMAN

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Protein

Lactosylceramide alpha-2,3-sialyltransferase

Gene
ST3GAL5, SIAT9, UNQ2510/PRO5998
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. lactosylceramide alpha-2,3-sialyltransferase activity Source: UniProtKB
  2. neolactotetraosylceramide alpha-2,3-sialyltransferase activity Source: ProtInc
  3. sialyltransferase activity Source: ProtInc

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. ganglioside biosynthetic process Source: UniProtKB
  3. glycosphingolipid biosynthetic process Source: ProtInc
  4. protein glycosylation Source: InterPro
  5. sialylation Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.99.9. 2681.
ReactomeiREACT_200874. Sialic acid metabolism.

Protein family/group databases

CAZyiGT29. Glycosyltransferase Family 29.

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:10872. ST3GAL5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6161Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei62 – 8221Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini83 – 418336Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB
  2. integral component of Golgi membrane Source: InterPro
  3. integral component of membrane Source: ProtInc
  4. 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) [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.1 Publication

Keywords - Diseasei

Epilepsy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 418418Lactosylceramide alpha-2,3-sialyltransferasePRO_0000149302Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi86 – 861N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi195 ↔ 353 By similarity
Glycosylationi236 – 2361N-linked (GlcNAc...) Reviewed prediction
Glycosylationi390 – 3901N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ9UNP4.
PaxDbiQ9UNP4.
PRIDEiQ9UNP4.

PTM databases

PhosphoSiteiQ9UNP4.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ9UNP4.
BgeeiQ9UNP4.
CleanExiHS_ST3GAL5.
GenevestigatoriQ9UNP4.

Organism-specific databases

HPAiHPA034708.
HPA040425.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000366549.

Structurei

3D structure databases

ProteinModelPortaliQ9UNP4.
SMRiQ9UNP4. Positions 191-393.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG257001.
HOVERGENiHBG056676.
InParanoidiQ9UNP4.
KOiK03370.
OMAiFFWKQVA.
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. Align

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

MRTKAAGCAE RRPLQPRTEA AAAPAGRAMP SEYTYVKLRS DCSRPSLQWY    50
TRAQSKMRRP SLLLKDILKC TLLVFGVWIL YILKLNYTTE ECDMKKMHYV 100
DPDHVKRAQK YAQQVLQKEC RPKFAKTSMA LLFEHRYSVD LLPFVQKAPK 150
DSEAESKYDP PFGFRKFSSK VQTLLELLPE HDLPEHLKAK TCRRCVVIGS 200
GGILHGLELG HTLNQFDVVI RLNSAPVEGY SEHVGNKTTI RMTYPEGAPL 250
SDLEYYSNDL FVAVLFKSVD FNWLQAMVKK ETLPFWVRLF FWKQVAEKIP 300
LQPKHFRILN PVIIKETAFD ILQYSEPQSR FWGRDKNVPT IGVIAVVLAT 350
HLCDEVSLAG FGYDLNQPRT PLHYFDSQCM AAMNFQTMHN VTTETKFLLK 400
LVKEGVVKDL SGGIDREF 418
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 AAD14634.1 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 BAA33950.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAY24147.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041H → R.3 Publications
Corresponds to variant rs3731824 [ dbSNP | Ensembl ].
VAR_025510

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2828Missing in isoform 2. VSP_033686Add
BLAST
Alternative sequencei1 – 2323Missing in isoform 3. VSP_033687Add
BLAST
Alternative sequencei24 – 285PAGRA → MASVP in isoform 3. VSP_033688

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human. [Q9UNP4-3]
uc002sqq.1. human. [Q9UNP4-1]

Polymorphism databases

DMDMi189047140.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

ST3Gal V

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS1986.2. [Q9UNP4-1 ]
CCDS42705.1. [Q9UNP4-3 ]
RefSeqi NP_001035902.1. NM_001042437.1. [Q9UNP4-3 ]
NP_003887.3. NM_003896.3. [Q9UNP4-1 ]
UniGenei Hs.415117.

3D structure databases

ProteinModelPortali Q9UNP4.
SMRi Q9UNP4. Positions 191-393.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000366549.

Protein family/group databases

CAZyi GT29. Glycosyltransferase Family 29.

PTM databases

PhosphoSitei Q9UNP4.

Polymorphism databases

DMDMi 189047140.

Proteomic databases

MaxQBi Q9UNP4.
PaxDbi Q9UNP4.
PRIDEi Q9UNP4.

Protocols and materials databases

DNASUi 8869.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377332 ; ENSP00000366549 ; ENSG00000115525 . [Q9UNP4-1 ]
ENST00000393805 ; ENSP00000377394 ; ENSG00000115525 . [Q9UNP4-2 ]
ENST00000393808 ; ENSP00000377397 ; ENSG00000115525 . [Q9UNP4-3 ]
GeneIDi 8869.
KEGGi hsa:8869.
UCSCi uc002sqp.1. human. [Q9UNP4-3 ]
uc002sqq.1. human. [Q9UNP4-1 ]

Organism-specific databases

CTDi 8869.
GeneCardsi GC02M086066.
HGNCi HGNC:10872. ST3GAL5.
HPAi HPA034708.
HPA040425.
MIMi 604402. gene.
609056. phenotype.
neXtProti NX_Q9UNP4.
Orphaneti 171714. Amish infantile epilepsy syndrome.
370938. Salt-and-pepper syndrome.
PharmGKBi PA35773.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG257001.
HOVERGENi HBG056676.
InParanoidi Q9UNP4.
KOi K03370.
OMAi FFWKQVA.
PhylomeDBi Q9UNP4.
TreeFami TF352819.

Enzyme and pathway databases

BRENDAi 2.4.99.9. 2681.
Reactomei REACT_200874. Sialic acid metabolism.

Miscellaneous databases

GeneWikii ST3GAL5.
GenomeRNAii 8869.
NextBioi 33295.
PROi Q9UNP4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UNP4.
Bgeei Q9UNP4.
CleanExi HS_ST3GAL5.
Genevestigatori Q9UNP4.

Family and domain databases

InterProi IPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
[Graphical view ]
Pfami PF00777. Glyco_transf_29. 1 hit.
[Graphical view ]
PIRSFi PIRSF005557. Sialyl_trans. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-418 (ISOFORM 1).
  10. Cited for: INVOLVEMENT IN AIES.

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: September 3, 2014
This is version 120 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

External Data

Dasty 3

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