O00219 (HAS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 100.
History...
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: Hyaluronan synthase 3 EC=2.4.1.212 Alternative name(s): Hyaluronate synthase 3 Hyaluronic acid synthase 3 Short name=HA synthase 3 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 553 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a role in hyaluronan/hyaluronic acid (HA) synthesis. |
| Catalytic activity | UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan) = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan). UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan) = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan). |
| Cofactor | Magnesium. |
| Pathway | |
| Subcellular location | Membrane; Multi-pass membrane protein Probable. |
| Sequence similarities | Belongs to the nodC/HAS family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | carbohydrate metabolic process Traceable author statement. Source: ProtInc |
| Cellular component | integral to plasma membrane Traceable author statement. Source: ProtInc |
| Molecular function | hyaluronan synthase activity Inferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O00219-1) 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: O00219-2) The sequence of this isoform differs from the canonical sequence as follows: 247-553: ILNKYDSWIS...EQYSLAFAEV → PPGKGMAVEDDQVQAAQVRATEAWSVHQRHVSREQ | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 553 | 553 | Hyaluronan synthase 3 | PRO_0000197178 | |||||
Regions | |||||||||
| Topological domain | 1 – 15 | 15 | Cytoplasmic Potential | ||||||
| Transmembrane | 16 – 36 | 21 | Helical; Name=1; Potential | ||||||
| Topological domain | 37 – 44 | 8 | Extracellular Potential | ||||||
| Transmembrane | 45 – 65 | 21 | Helical; Name=2; Potential | ||||||
| Topological domain | 66 – 377 | 312 | Cytoplasmic Potential | ||||||
| Transmembrane | 378 – 398 | 21 | Helical; Name=3; Potential | ||||||
| Topological domain | 399 – 408 | 10 | Extracellular Potential | ||||||
| Transmembrane | 409 – 429 | 21 | Helical; Name=4; Potential | ||||||
| Topological domain | 430 – 440 | 11 | Cytoplasmic Potential | ||||||
| Transmembrane | 441 – 461 | 21 | Helical; Name=5; Potential | ||||||
| Topological domain | 462 – 473 | 12 | Extracellular Potential | ||||||
| Transmembrane | 474 – 494 | 21 | Helical; Name=6; Potential | ||||||
| Topological domain | 495 – 515 | 21 | Cytoplasmic Potential | ||||||
| Transmembrane | 516 – 536 | 21 | Helical; Name=7; Potential | ||||||
| Topological domain | 537 – 553 | 17 | Extracellular Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 462 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 247 – 553 | 307 | ILNKY…AFAEV → PPGKGMAVEDDQVQAAQVRA TEAWSVHQRHVSREQ in isoform 2. | VSP_042022 | |||||
| Natural variant | 173 | 1 | R → H. Corresponds to variant rs2232229 [ dbSNP | Ensembl ]. | VAR_049317 | |||||
Experimental info | |||||||||
| Sequence conflict | 493 | 1 | G → E in AAF36984. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular characterization of hyaluronan synthase 3." Spicer A.P. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [3] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed: 15616553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Prostate. |
| [6] | "Molecular cloning and characterization of a cDNA encoding the third putative mammalian hyaluronan synthase." Spicer A.P., Olson J.S., McDonald J.A. J. Biol. Chem. 272:8957-8961(1997) [PubMed: 9083017] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 275-464. |
| + | Additional computationally mapped references. |
Web resources
| GGDB GlycoGene database |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF232772 mRNA. Translation: AAF36984.1. AK291400 mRNA. Translation: BAF84089.1. AC009027 Genomic DNA. No translation available. CH471092 Genomic DNA. Translation: EAW83247.1. CH471092 Genomic DNA. Translation: EAW83248.1. BC021853 mRNA. Translation: AAH21853.1. U86409 Genomic DNA. Translation: AAC51209.1. |
| IPI | IPI00297981. |
| RefSeq | NP_001186209.1. NM_001199280.1. NP_005320.2. NM_005329.2. NP_619515.1. NM_138612.2. |
| UniGene | Hs.592069. |
3D structure databases | |
| ProteinModelPortal | O00219. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O00219. |
Protein family/group databases | |
| CAZy | GT2. Glycosyltransferase Family 2. |
Proteomic databases | |
| PRIDE | O00219. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000306560; ENSP00000304440; ENSG00000103044. |
| GeneID | 3038. |
| KEGG | hsa:3038. |
Organism-specific databases | |
| CTD | 3038. |
| GeneCards | GC16P069140. |
| HGNC | HGNC:4820. HAS3. |
| HPA | CAB033850. HPA031554. |
| MIM | 602428. gene. |
| neXtProt | NX_O00219. |
| PharmGKB | PA29196. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG05528. |
| HOGENOM | HBG716008. |
| HOVERGEN | HBG000189. |
| InParanoid | O00219. |
| OMA | WYHQTFL. |
| OrthoDB | EOG4BG8VQ. |
| PhylomeDB | O00219. |
Enzyme and pathway databases | |
| BRENDA | 2.4.1.212. 2681. |
Gene expression databases | |
| ArrayExpress | O00219. |
| Bgee | O00219. |
| CleanEx | HS_HAS3. |
| Genevestigator | O00219. |
| GermOnline | ENSG00000103044. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004835. Chitin_synth_fng. [Graphical view] |
| KO | K00752. |
| Pfam | PF03142. Chitin_synth_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | HAS3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00219 Secondary accession number(s): A8K5T5, Q8WTZ0, Q9NYP0 | ||||||||
| 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 16 Human chromosome 16: 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 |

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