Q9UNP4 (SIAT9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ST3GAL5
Synonyms:	SIAT9
ORF Names:	UNQ2510/PRO5998

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	418 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Epilepsy
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement Ref.1. Source: ProtInc ganglioside biosynthetic process Non-traceable author statement Ref.1. Source: UniProtKB protein glycosylation Inferred from electronic annotation. Source: InterPro
Cellular_component	Golgi membrane Non-traceable author statement Ref.1. Source: UniProtKB integral to Golgi membrane Inferred from electronic annotation. Source: InterPro integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	lactosylceramide alpha-2,3-sialyltransferase activity Inferred from direct assay Ref.1. Source: UniProtKB neolactotetraosylceramide alpha-2,3-sialyltransferase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 418	418	Lactosylceramide alpha-2,3-sialyltransferase		PRO_0000149302
Regions
	Topological domain	1 – 61	61	Cytoplasmic Potential
	Transmembrane	62 – 82	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	83 – 418	336	Lumenal Potential
Amino acid modifications
	Glycosylation	86	1	N-linked (GlcNAc...) Potential
	Glycosylation	236	1	N-linked (GlcNAc...) Potential
	Glycosylation	390	1	N-linked (GlcNAc...) Potential
	Disulfide bond	195 ↔ 353		By similarity
Natural variations
	Alternative sequence	1 – 28	28	Missing in isoform 2.		VSP_033686
	Alternative sequence	1 – 23	23	Missing in isoform 3.		VSP_033687
	Alternative sequence	24 – 28	5	PAGRA → MASVP in isoform 3.		VSP_033688
	Natural variant	104	1	H → R. Ref.1 Ref.2 Ref.8 Corresponds to variant rs3731824 [ dbSNP | Ensembl ].		VAR_025510

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 20, 2008. Version 4. Checksum: B423540B31C27A8A	FASTA	418	47,990
	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
	Isoform 2 [UniParc]. Checksum: 30EC0B46B4C29DBF	FASTA	390	45,099
	10 20 30 40 50 60 MPSEYTYVKL RSDCSRPSLQ WYTRAQSKMR RPSLLLKDIL KCTLLVFGVW ILYILKLNYT 70 80 90 100 110 120 TEECDMKKMH YVDPDHVKRA QKYAQQVLQK ECRPKFAKTS MALLFEHRYS VDLLPFVQKA 130 140 150 160 170 180 PKDSEAESKY DPPFGFRKFS SKVQTLLELL PEHDLPEHLK AKTCRRCVVI GSGGILHGLE 190 200 210 220 230 240 LGHTLNQFDV VIRLNSAPVE GYSEHVGNKT TIRMTYPEGA PLSDLEYYSN DLFVAVLFKS 250 260 270 280 290 300 VDFNWLQAMV KKETLPFWVR LFFWKQVAEK IPLQPKHFRI LNPVIIKETA FDILQYSEPQ 310 320 330 340 350 360 SRFWGRDKNV PTIGVIAVVL ATHLCDEVSL AGFGYDLNQP RTPLHYFDSQ CMAAMNFQTM 370 380 390 HNVTTETKFL LKLVKEGVVK DLSGGIDREF
	Isoform 3 [UniParc]. Checksum: 961126EE86517F66	FASTA	395	45,585
	10 20 30 40 50 60 MASVPMPSEY TYVKLRSDCS RPSLQWYTRA QSKMRRPSLL LKDILKCTLL VFGVWILYIL 70 80 90 100 110 120 KLNYTTEECD MKKMHYVDPD HVKRAQKYAQ QVLQKECRPK FAKTSMALLF EHRYSVDLLP 130 140 150 160 170 180 FVQKAPKDSE AESKYDPPFG FRKFSSKVQT LLELLPEHDL PEHLKAKTCR RCVVIGSGGI 190 200 210 220 230 240 LHGLELGHTL NQFDVVIRLN SAPVEGYSEH VGNKTTIRMT YPEGAPLSDL EYYSNDLFVA 250 260 270 280 290 300 VLFKSVDFNW LQAMVKKETL PFWVRLFFWK QVAEKIPLQP KHFRILNPVI IKETAFDILQ 310 320 330 340 350 360 YSEPQSRFWG RDKNVPTIGV IAVVLATHLC DEVSLAGFGY DLNQPRTPLH YFDSQCMAAM 370 380 390 NFQTMHNVTT ETKFLLKLVK EGVVKDLSGG IDREF

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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. , 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

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

ST3Gal V

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.
IPI	IPI00746651. IPI00761101. IPI00793901.
RefSeq	NP_001035902.1. NM_001042437.1. NP_003887.3. NM_003896.3.
UniGene	Hs.415117.
3D structure databases
ProteinModelPortal	Q9UNP4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000366549.
Protein family/group databases
CAZy	GT29. Glycosyltransferase Family 29.
PTM databases
PhosphoSite	Q9UNP4.
Polymorphism databases
DMDM	189047140.
Proteomic databases
PaxDb	Q9UNP4.
PRIDE	Q9UNP4.
Protocols and materials databases
DNASU	8869.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377332; ENSP00000366549; ENSG00000115525. ENST00000393805; ENSP00000377394; ENSG00000115525. ENST00000393808; ENSP00000377397; ENSG00000115525.
GeneID	8869.
KEGG	hsa:8869.
UCSC	uc002sqp.1. human. uc002sqq.1. human.
Organism-specific databases
CTD	8869.
GeneCards	GC02M086066.
HGNC	HGNC:10872. ST3GAL5.
HPA	HPA034708.
MIM	604402. gene. 609056. phenotype.
neXtProt	NX_Q9UNP4.
Orphanet	171714. Amish infantile epilepsy syndrome.
PharmGKB	PA35773.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG257001.
HOVERGEN	HBG056676.
InParanoid	Q9UNP4.
KO	K03370.
OMA	FFWKQVA.
Enzyme and pathway databases
BRENDA	2.4.99.9. 2681.
Gene expression databases
ArrayExpress	Q9UNP4.
Bgee	Q9UNP4.
CleanEx	HS_ST3GAL5.
Genevestigator	Q9UNP4.
GermOnline	ENSG00000115525. Homo sapiens.
Family and domain databases
InterPro	IPR001675. Glyco_trans_29. IPR012163. Sialyl_trans. [Graphical view]
Pfam	PF00777. Glyco_transf_29. 1 hit. [Graphical view]
PIRSF	PIRSF005557. Sialyl_trans. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	8869.
NextBio	33295.
SOURCE	Search...

Entry information

Entry name

SIAT9_HUMAN

Accession

Primary (citable) accession number: Q9UNP4
Secondary accession number(s): B3KM82 , D6W5L9, O94902, Q53QU1, Q6NZX4, Q6YFL1

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2002
Last sequence update:	May 20, 2008
Last modified:	May 1, 2013
This is version 110 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.