Q9Y4X1 (UD2A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 105.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: UDP-glucuronosyltransferase 2A1 Short name=UDPGT 2A1 EC=2.4.1.17 | ||||
| Gene names |
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| 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 | 527 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium. Ref.2 |
| Catalytic activity | UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
| Subcellular location | Membrane; Single-pass type I membrane protein Potential. |
| Tissue specificity | Olfactory epithelium and brain. Isoform 2 is mainly expressed in the nasal mucosa. Ref.1 Ref.2 |
| Sequence similarities | Belongs to the UDP-glycosyltransferase family. |
| Caution | According to HGNC, UGT2A1 and UGT2A2 are 2 separate genes. However, they share common exons at the C-terminus, suggesting that UGT2A1 and UGT2A2 are different isoforms encoded by the same locus. |
| Biophysicochemical properties | Kinetic parameters: KM=75.4 µM for 3-hydroxybiphenyl Ref.1 KM=59.5 µM for umbelliferone KM=51.6 µM for S---b-citronellol KM=170.1 µM for borneol KM=56.2 µM for testosterone KM=251 µM for UDP-glucuronate Vmax=2.60 nmol/min/mg enzyme with 3-hydroxybiphenyl as substrate Vmax=0.61 nmol/min/mg enzyme with umbelliferone as substrate Vmax=1.98 nmol/min/mg enzyme with S---b-citronellol as substrate Vmax=1.05 nmol/min/mg enzyme with borneol as substrate Vmax=0.25 nmol/min/mg enzyme with testosterone as substrate |
Ontologies
| Keywords | |
|---|---|
| Biological process | Olfaction Sensory transduction |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal Transmembrane Transmembrane helix |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cellular glucuronidation Inferred from direct assay Ref.2. Source: BHF-UCL detection of chemical stimulusTraceable author statement Ref.1. Source: ProtInc sensory perception of smellInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | glucuronosyltransferase activity Inferred from direct assay Ref.2. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y4X1-1) 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: Q9Y4X1-2) Also known as: UGT2A2; The sequence of this isoform differs from the canonical sequence as follows: 1-237: MLNNLLLFSL...KSWDSYYSKA → MVSIRDFTMP...GEWNSYYSKI | ||||||
| Isoform 3 (identifier: Q9Y4X1-3) Also known as: UGT2A2 variant 1; The sequence of this isoform differs from the canonical sequence as follows: 1-237: MLNNLLLFSL...KSWDSYYSKA → MVSIRDFTMP...GEWNSYYSKI 288-331: Missing. | ||||||
| Isoform 4 (identifier: Q9Y4X1-4) The sequence of this isoform differs from the canonical sequence as follows: 237-237: A → ALDGSHWLNI...GEWNSYYSKI 288-331: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q9Y4X1-5) The sequence of this isoform differs from the canonical sequence as follows: 238-238: L → LGGLLLCCPGWSAVADLGSLQPLLPGFKRFSRLSLHCSWDYRLPA 288-331: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 20 | 20 | Potential | ||||||
| Chain | 21 – 527 | 507 | UDP-glucuronosyltransferase 2A1 | PRO_0000036023 | |||||
Regions | |||||||||
| Topological domain | 21 – 490 | 470 | Extracellular Potential | ||||||
| Transmembrane | 491 – 507 | 17 | Helical; Potential | ||||||
| Topological domain | 508 – 527 | 20 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 49 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 313 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 347 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 237 | 237 | MLNNL…YYSKA → MVSIRDFTMPKKFVQMLVFN LTLTEVVLSGNVLIWPTDGS HWLNIKIILEELIQRNHNVT VLASSATLFINSNPDSPVNF EVIPVSYKKSNIDSLIEHMI MLWIDHRPTPLTIWAFYKEL GKLLDTFFQINIQLCDGVLK NPKLMARLQKGGFDVLVADP VTICGDLVALKLGIPFMYTL RFSPASTVERHCGKIPAPVS YVPAALSELTDQMTFGERIK NTISYSLQDYIFQSYWGEWN SYYSKI in isoform 2 and isoform 3. | VSP_039375 | |||||
| Alternative sequence | 237 | 1 | A → ALDGSHWLNIKIILEELIQR NHNVTVLASSATLFINSNPD SPVNFEVIPVSYKKSNIDSL IEHMIMLWIDHRPTPLTIWA FYKELGKLLDTFFQINIQLC DGVLKNPKLMARLQKGGFDV LVADPVTICGDLVALKLGIP FMYTLRFSPASTVERHCGKI PAPVSYVPAALSELTDQMTF GERIKNTISYSLQDYIFQSY WGEWNSYYSKI in isoform 4. | VSP_044733 | |||||
| Alternative sequence | 238 | 1 | L → LGGLLLCCPGWSAVADLGSL QPLLPGFKRFSRLSLHCSWD YRLPA in isoform 5. | VSP_045577 | |||||
| Alternative sequence | 288 – 331 | 44 | Missing in isoform 3, isoform 4 and isoform 5. | VSP_039376 | |||||
| Natural variant | 75 | 1 | R → K. Ref.1 Ref.3 Corresponds to variant rs1347046 [ dbSNP | Ensembl ]. | VAR_063113 | |||||
| Natural variant | 308 | 1 | G → R. Corresponds to variant rs4148301 [ dbSNP | Ensembl ]. | VAR_024686 | |||||
| Natural variant | 391 | 1 | V → I. Ref.3 Corresponds to variant rs4148304 [ dbSNP | Ensembl ]. | VAR_057326 | |||||
Experimental info | |||||||||
| Sequence conflict | 92 | 1 | L → S in CAB41974. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of a novel human olfactory UDP-glucuronosyltransferase." Jedlitschky G.A., Cassidy A.J., Sales M., Pratt N., Burchell B. Biochem. J. 340:837-843(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY, VARIANT LYS-75. Tissue: Olfactory bulb. |
| [2] | "Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3." Sneitz N., Court M.H., Zhang X., Laajanen K., Yee K.K., Dalton P., Ding X., Finel M. Pharmacogenet. Genomics 19:923-934(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), FUNCTION, TISSUE SPECIFICITY. Tissue: Nasal mucosa. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), VARIANTS LYS-75 AND ILE-391. Tissue: Trachea. |
| [4] | "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. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ006054 mRNA. Translation: CAB41974.1. FJ664272 mRNA. Translation: ACV70034.1. FJ664273 mRNA. Translation: ACV70035.1. AK304249 mRNA. Translation: BAG65116.1. AK314209 mRNA. No translation available. AC093829 Genomic DNA. No translation available. |
| IPI | IPI00869317. IPI00908801. IPI00955955. IPI00966300. |
| RefSeq | NP_001099147.2. NM_001105677.2. NP_001239203.1. NM_001252274.1. NP_001239204.1. NM_001252275.1. NP_006789.2. NM_006798.3. |
| UniGene | Hs.225950. |
3D structure databases | |
| ProteinModelPortal | Q9Y4X1. |
| SMR | Q9Y4X1. Positions 222-445. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000286604. |
Protein family/group databases | |
| CAZy | GT1. Glycosyltransferase Family 1. |
PTM databases | |
| PhosphoSite | Q9Y4X1. |
Polymorphism databases | |
| DMDM | 296452854. |
Proteomic databases | |
| PaxDb | Q9Y4X1. |
| PRIDE | Q9Y4X1. |
Protocols and materials databases | |
| DNASU | 10941. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000286604; ENSP00000286604; ENSG00000173610. ENST00000457664; ENSP00000387888; ENSG00000173610. ENST00000503640; ENSP00000424478; ENSG00000173610. ENST00000514019; ENSP00000425497; ENSG00000173610. |
| GeneID | 10941. 574537. |
| KEGG | hsa:10941. hsa:574537. |
| UCSC | uc003hem.4. human. uc010ihs.3. human. uc021xox.1. human. |
Organism-specific databases | |
| CTD | 10941. 574537. |
| GeneCards | GC04M070454. GC04M070489. |
| H-InvDB | HIX0031395. |
| HGNC | HGNC:12542. UGT2A1. HGNC:28183. UGT2A2. |
| HPA | HPA017261. |
| MIM | 604716. gene. |
| neXtProt | NX_Q9Y4X1. |
| PharmGKB | PA37184. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1819. |
| HOGENOM | HOG000220831. |
| HOVERGEN | HBG004033. |
| InParanoid | Q9Y4X1. |
| KO | K00699. |
| OMA | VIKDFHV. |
| PhylomeDB | Q9Y4X1. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
Gene expression databases | |
| ArrayExpress | Q9Y4X1. |
| Bgee | Q9Y4X1. |
| CleanEx | HS_UGT2A1. |
| Genevestigator | Q9Y4X1. |
| GermOnline | ENSG00000173610. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002213. UDP_glucos_trans. [Graphical view] |
| PANTHER | PTHR11926. PTHR11926. 1 hit. |
| Pfam | PF00201. UDPGT. 1 hit. [Graphical view] |
| PROSITE | PS00375. UDPGT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChEMBL | CHEMBL1743321. |
| GenomeRNAi | 10941. |
| NextBio | 35534862. |
| SOURCE | Search... |
Entry information
| Entry name | UD2A1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y4X1 Secondary accession number(s): B4E2F4 J3KNA3 | ||||||||
| 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 4 Human chromosome 4: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
