Q11203 (SIAT6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 122.
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Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase EC=2.4.99.6 Alternative name(s): Beta-galactoside alpha-2,3-sialyltransferase 3 Short name=Alpha 2,3-ST 3 Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase N-acetyllactosaminide alpha-2,3-sialyltransferase ST3Gal III Short name=ST3GalIII ST3N Sialyltransferase 6 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 375 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc By similarity. |
| Catalytic activity | CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-glycoprotein = CMP + alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-glycoprotein. |
| Pathway | |
| Subcellular location | Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note: Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid. |
| Tissue specificity | Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver. |
| Post-translational modification | The soluble form derives from the membrane form by proteolytic processing. |
| Involvement in disease | Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. |
| Sequence similarities | Belongs to the glycosyltransferase 29 family. |
Ontologies
Alternative products
| This entry describes 26 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform B1 (identifier: Q11203-1) 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 A1 (identifier: Q11203-2) The sequence of this isoform differs from the canonical sequence as follows: 40-40: N → SKYSHSSSPQEKPVAD | ||||||
| Isoform A7 (identifier: Q11203-3) The sequence of this isoform differs from the canonical sequence as follows: 40-40: N → SKYSHSSSPQEKPVAD 133-155: DNLIKAILSVTKEYRLTPALDSL → VLDAQYPARERVSAEAGESSRHH 156-375: Missing. | ||||||
| Isoform A8 (identifier: Q11203-4) The sequence of this isoform differs from the canonical sequence as follows: 40-40: N → SKYSHSSSPQEKPVAD 70-70: L → LSPRTLCTVVFGLDCILESPGEPKKLLMPASHPLEILKSLSEDTAFALGFLKLPR | ||||||
| Isoform B1-90 (identifier: Q11203-5) The sequence of this isoform differs from the canonical sequence as follows: 249-278: Missing. | ||||||
| Isoform B1+32 (identifier: Q11203-6) The sequence of this isoform differs from the canonical sequence as follows: 187-189: LNS → PRL 190-375: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform B3 (identifier: Q11203-7) The sequence of this isoform differs from the canonical sequence as follows: 71-101: Missing. | ||||||
| Isoform B4 (identifier: Q11203-8) The sequence of this isoform differs from the canonical sequence as follows: 249-346: Missing. | ||||||
| Isoform B4+173 (identifier: Q11203-9) The sequence of this isoform differs from the canonical sequence as follows: 102-115: FSKPAPMFLDDSFR → EKVRTFMAWLAWYG 116-375: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform B5+26 (identifier: Q11203-10) The sequence of this isoform differs from the canonical sequence as follows: 187-375: Missing. | ||||||
| Isoform B5+173 (identifier: Q11203-11) The sequence of this isoform differs from the canonical sequence as follows: 102-121: FSKPAPMFLDDSFRKWARIR → AKRNGAWRQKHIQAYVLRQR 122-375: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform B7 (identifier: Q11203-12) The sequence of this isoform differs from the canonical sequence as follows: 133-155: DNLIKAILSVTKEYRLTPALDSL → VLDAQYPARERVSAEAGESSRHH 156-375: Missing. | ||||||
| Isoform B8 (identifier: Q11203-13) The sequence of this isoform differs from the canonical sequence as follows: 70-70: L → LSPRTLCTVVFGLDCILESPGEPKKLLMPASHPLEILKSLSEDTAFALGFLKLPR | ||||||
| Isoform B10 (identifier: Q11203-14) The sequence of this isoform differs from the canonical sequence as follows: 133-151: DNLIKAILSVTKEYRLTPA → ECIGWLLEICGHSSAQGAP 152-375: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform C1 (identifier: Q11203-15) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K | ||||||
| Isoform C4 (identifier: Q11203-16) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 249-346: Missing. | ||||||
| Isoform C5 (identifier: Q11203-17) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 186-202: RLNSAPVKGFEKDVGSK → SPGRTISSERKSFCGSW 203-375: Missing. | ||||||
| Isoform C7 (identifier: Q11203-18) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 133-155: DNLIKAILSVTKEYRLTPALDSL → VLDAQYPARERVSAEAGESSRHH 156-375: Missing. | ||||||
| Isoform C8 (identifier: Q11203-19) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 70-70: L → LSPRTLCTVVFGLDCILESPGEPKKLLMPASHPLEILKSLSEDTAFALGFLKLPR | ||||||
| Isoform C9 (identifier: Q11203-20) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 187-244: LNSAPVKGFE...DFKWLKYIVY → VHRMASGNLW...GTSLPLAVWQ 245-375: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform C11 (identifier: Q11203-21) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 71-101: Missing. 249-346: Missing. | ||||||
| Isoform C12 (identifier: Q11203-22) The sequence of this isoform differs from the canonical sequence as follows: 40-56: NSVVLSFDSAGQTLGSE → K 102-117: FSKPAPMFLDDSFRKW → PGRTISSERKSFCGSW 118-375: Missing. | ||||||
| Isoform D2+26 (identifier: Q11203-23) The sequence of this isoform differs from the canonical sequence as follows: 40-55: NSVVLSFDSAGQTLGS → SKYSHSSSPQEKPVA 187-375: Missing. | ||||||
| Isoform D5 (identifier: Q11203-24) The sequence of this isoform differs from the canonical sequence as follows: 40-55: NSVVLSFDSAGQTLGS → SKYSHSSSPQEKPVA 186-202: RLNSAPVKGFEKDVGSK → SPGRTISSERKSFCGSW 203-375: Missing. | ||||||
| Isoform E1 (identifier: Q11203-25) The sequence of this isoform differs from the canonical sequence as follows: 40-43: NSVV → SLLN 44-375: Missing. | ||||||
| Isoform E3+32 (identifier: Q11203-26) The sequence of this isoform differs from the canonical sequence as follows: 40-73: NSVVLSFDSAGQTLGSEYDRLGFLLNLDSKLPAE → SSPSQHPCSWMTPFASGLESGSSCRLLGSKVKTI 74-375: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 375 | 375 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase | PRO_0000149266 | |||||||
Regions | |||||||||||
| Topological domain | 1 – 8 | 8 | Cytoplasmic Potential | ||||||||
| Transmembrane | 9 – 28 | 20 | Helical; Signal-anchor for type II membrane protein; Potential | ||||||||
| Topological domain | 29 – 375 | 347 | Lumenal Potential | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 80 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 171 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 160 ↔ 314 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 40 – 73 | 34 | NSVVL…KLPAE → SSPSQHPCSWMTPFASGLES GSSCRLLGSKVKTI in isoform E3+32. | VSP_010595 | |||||||
| Alternative sequence | 40 – 56 | 17 | NSVVL…TLGSE → K in isoform C1, isoform C4, isoform C5, isoform C7, isoform C8, isoform C9, isoform C11 and isoform C12. | VSP_010594 | |||||||
| Alternative sequence | 40 – 55 | 16 | NSVVL…QTLGS → SKYSHSSSPQEKPVA in isoform D5 and isoform D2+26. | VSP_010593 | |||||||
| Alternative sequence | 40 – 43 | 4 | NSVV → SLLN in isoform E1. | VSP_010592 | |||||||
| Alternative sequence | 40 | 1 | N → SKYSHSSSPQEKPVAD in isoform A1, isoform A7 and isoform A8. | VSP_010591 | |||||||
| Alternative sequence | 44 – 375 | 332 | Missing in isoform E1. | VSP_010596 | |||||||
| Alternative sequence | 70 | 1 | L → LSPRTLCTVVFGLDCILESP GEPKKLLMPASHPLEILKSL SEDTAFALGFLKLPR in isoform A8, isoform B8 and isoform C8. | VSP_010597 | |||||||
| Alternative sequence | 71 – 101 | 31 | Missing in isoform B3 and isoform C11. | VSP_010598 | |||||||
| Alternative sequence | 74 – 375 | 302 | Missing in isoform E3+32. | VSP_010599 | |||||||
| Alternative sequence | 102 – 121 | 20 | FSKPA…WARIR → AKRNGAWRQKHIQAYVLRQR in isoform B5+173. | VSP_010602 | |||||||
| Alternative sequence | 102 – 117 | 16 | FSKPA…SFRKW → PGRTISSERKSFCGSW in isoform C12. | VSP_010601 | |||||||
| Alternative sequence | 102 – 115 | 14 | FSKPA…DDSFR → EKVRTFMAWLAWYG in isoform B4+173. | VSP_010600 | |||||||
| Alternative sequence | 116 – 375 | 260 | Missing in isoform B4+173. | VSP_010603 | |||||||
| Alternative sequence | 118 – 375 | 258 | Missing in isoform C12. | VSP_010604 | |||||||
| Alternative sequence | 122 – 375 | 254 | Missing in isoform B5+173. | VSP_010605 | |||||||
| Alternative sequence | 133 – 155 | 23 | DNLIK…ALDSL → VLDAQYPARERVSAEAGESS RHH in isoform A7, isoform B7 and isoform C7. | VSP_010607 | |||||||
| Alternative sequence | 133 – 151 | 19 | DNLIK…RLTPA → ECIGWLLEICGHSSAQGAP in isoform B10. | VSP_010606 | |||||||
| Alternative sequence | 152 – 375 | 224 | Missing in isoform B10. | VSP_010608 | |||||||
| Alternative sequence | 156 – 375 | 220 | Missing in isoform A7, isoform B7 and isoform C7. | VSP_010609 | |||||||
| Alternative sequence | 186 – 202 | 17 | RLNSA…DVGSK → SPGRTISSERKSFCGSW in isoform C5 and isoform D5. | VSP_010610 | |||||||
| Alternative sequence | 187 – 375 | 189 | Missing in isoform B5+26 and isoform D2+26. | VSP_010613 | |||||||
| Alternative sequence | 187 – 244 | 58 | LNSAP…KYIVY → VHRMASGNLWPLECPRSPLR FESSTHISSRRPPSPSLACP STMASWAGGTSLPLAVWQ in isoform C9. | VSP_010612 | |||||||
| Alternative sequence | 187 – 189 | 3 | LNS → PRL in isoform B1+32. | VSP_010611 | |||||||
| Alternative sequence | 190 – 375 | 186 | Missing in isoform B1+32. | VSP_010614 | |||||||
| Alternative sequence | 203 – 375 | 173 | Missing in isoform C5 and isoform D5. | VSP_010615 | |||||||
| Alternative sequence | 245 – 375 | 131 | Missing in isoform C9. | VSP_010616 | |||||||
| Alternative sequence | 249 – 346 | 98 | Missing in isoform B4, isoform C4 and isoform C11. | VSP_010618 | |||||||
| Alternative sequence | 249 – 278 | 30 | Missing in isoform B1-90. | VSP_010617 | |||||||
| Natural variant | 13 | 1 | A → D in MRT12; most of the mutant protein is improperly localized to the endoplasmic reticulum preventing the protein from interacting with its substrates in the Golgi and resulting in a loss-of-function. Ref.7 | VAR_066594 | |||||||
| Natural variant | 370 | 1 | D → Y in MRT12; the mutant protein is improperly localized to the endoplasmic reticulum preventing the protein from interacting with its substrates in the Golgi and resulting in a loss-of-function; shows a complete lack of enzyme activity; secretion of the mutant protein is dramatically reduced compared to wild-type. Ref.7 | VAR_066595 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 38 | 1 | D → N in AAO38806. Ref.3 | ||||||||
| Sequence conflict | 94 | 1 | L → S in AAO38810. Ref.3 | ||||||||
| Sequence conflict | 123 | 1 | F → L in AAO38810. Ref.3 | ||||||||
| Sequence conflict | 351 | 1 | N → S in AAO38811. Ref.3 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase." Kitagawa H., Paulson J.C. Biochem. Biophys. Res. Commun. 194:375-382(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B1). Tissue: Placenta. |
| [2] | "Structural variations of the alpha 2,3-sialyltransferase III, ST3GalIII, transcripts in human peripheral white blood cells." Grahn A., Larson G. Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A1; A7; A8; B1; B1-90; B1+32; B3; B4; B4+173; B5+26; B5+173; B7; B8; C1; C7; C8; D2+26; E1 AND E3+32). |
| [3] | "Structural variations of the alpha 2,3-sialyltransferase III, ST3GalIII, transcripts in human fetal brain." Grahn A., Larson G. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B10; C4; C5; C9; C11; C12 AND D5). Tissue: Fetal brain. |
| [4] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM B1). Tissue: Brain. |
| [7] | "ST3GAL3 mutations impair the development of higher cognitive functions." Hu H., Eggers K., Chen W., Garshasbi M., Motazacker M.M., Wrogemann K., Kahrizi K., Tzschach A., Hosseini M., Bahman I., Hucho T., Muhlenhoff M., Gerardy-Schahn R., Najmabadi H., Ropers H.H., Kuss A.W. Am. J. Hum. Genet. 89:407-414(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MRT12 ASP-13 AND TYR-370, CHARACTERIZATION OF VARIANTS MRT12 ASP-13 AND TYR-370. |
| + | Additional computationally mapped references. |
Web resources
| GGDB GlycoGene database |
| Functional Glycomics Gateway - GTase ST3Gal III |
Cross-references
Entry information
| Entry name | SIAT6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q11203 Secondary accession number(s): A9Z1W2 Q8IX58 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
