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Q9Y4X1 (UD2A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UDP-glucuronosyltransferase 2A1

Short name=UDPGT 2A1
EC=2.4.1.17
Gene names
Name:UGT2A1
Synonyms:UGT2A2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length527 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 527507UDP-glucuronosyltransferase 2A1
PRO_0000036023

Regions

Topological domain21 – 490470Extracellular Potential
Transmembrane491 – 50717Helical; Potential
Topological domain508 – 52720Cytoplasmic Potential

Amino acid modifications

Glycosylation491N-linked (GlcNAc...) Potential
Glycosylation3131N-linked (GlcNAc...) Potential
Glycosylation3471N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 237237MLNNL…YYSKA → MVSIRDFTMPKKFVQMLVFN LTLTEVVLSGNVLIWPTDGS HWLNIKIILEELIQRNHNVT VLASSATLFINSNPDSPVNF EVIPVSYKKSNIDSLIEHMI MLWIDHRPTPLTIWAFYKEL GKLLDTFFQINIQLCDGVLK NPKLMARLQKGGFDVLVADP VTICGDLVALKLGIPFMYTL RFSPASTVERHCGKIPAPVS YVPAALSELTDQMTFGERIK NTISYSLQDYIFQSYWGEWN SYYSKI in isoform 2 and isoform 3.
VSP_039375
Alternative sequence2371A → ALDGSHWLNIKIILEELIQR NHNVTVLASSATLFINSNPD SPVNFEVIPVSYKKSNIDSL IEHMIMLWIDHRPTPLTIWA FYKELGKLLDTFFQINIQLC DGVLKNPKLMARLQKGGFDV LVADPVTICGDLVALKLGIP FMYTLRFSPASTVERHCGKI PAPVSYVPAALSELTDQMTF GERIKNTISYSLQDYIFQSY WGEWNSYYSKI in isoform 4.
VSP_044733
Alternative sequence2381L → LGGLLLCCPGWSAVADLGSL QPLLPGFKRFSRLSLHCSWD YRLPA in isoform 5.
VSP_045577
Alternative sequence288 – 33144Missing in isoform 3, isoform 4 and isoform 5.
VSP_039376
Natural variant751R → K. Ref.1 Ref.3
Corresponds to variant rs1347046 [ dbSNP | Ensembl ].
VAR_063113
Natural variant3081G → R.
Corresponds to variant rs4148301 [ dbSNP | Ensembl ].
VAR_024686
Natural variant3911V → I. Ref.3
Corresponds to variant rs4148304 [ dbSNP | Ensembl ].
VAR_057326

Experimental info

Sequence conflict921L → S in CAB41974. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: C55858D7185273A8

FASTA52759,926
        10         20         30         40         50         60 
MLNNLLLFSL QISLIGTTLG GNVLIWPMEG SHWLNVKIII DELIKKEHNV TVLVASGALF 

        70         80         90        100        110        120 
ITPTSNPSLT FEIYRVPFGK ERIEGVIKDF VLTWLENRPS PSTIWRFYQE MAKVIKDFHM 

       130        140        150        160        170        180 
VSQEICDGVL KNQQLMAKLK KSKFEVLVSD PVFPCGDIVA LKLGIPFMYS LRFSPASTVE 

       190        200        210        220        230        240 
KHCGKVPYPP SYVPAVLSEL TDQMSFTDRI RNFISYHLQD YMFETLWKSW DSYYSKALGR 

       250        260        270        280        290        300 
PTTLCETMGK AEIWLIRTYW DFEFPRPYLP NFEFVGGLHC KPAKPLPKEM EEFIQSSGKN 

       310        320        330        340        350        360 
GVVVFSLGSM VKNLTEEKAN LIASALAQIP QKVLWRYKGK KPATLGNNTQ LFDWIPQNDL 

       370        380        390        400        410        420 
LGHPKTKAFI THGGTNGIYE AIYHGVPMVG VPMFADQPDN IAHMKAKGAA VEVNLNTMTS 

       430        440        450        460        470        480 
VDLLSALRTV INEPSYKENA MRLSRIHHDQ PVKPLDRAVF WIEFVMRHKG AKHLRVAAHD 

       490        500        510        520 
LTWFQYHSLD VIGFLLVCVT TAIFLVIQCC LFSCQKFGKI GKKKKRE 

« Hide

Isoform 2 (UGT2A2) [UniParc].

Checksum: 2234435E46224749
Show »

FASTA53660,772
Isoform 3 (UGT2A2 variant 1) [UniParc].

Checksum: 4A3E94D5433A9289
Show »

FASTA49256,053
Isoform 4 [UniParc].

Checksum: 7310B7229C9E2AA1
Show »

FASTA69379,091
Isoform 5 [UniParc].

Checksum: B5E0848AD4D14497
Show »

FASTA52759,991

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. expand/collapse author list , 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] (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. expand/collapse author list , 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].

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.
RefSeqNP_001099147.2. NM_001105677.2.
NP_001239203.1. NM_001252274.1.
NP_001239204.1. NM_001252275.1.
NP_006789.2. NM_006798.3.
UniGeneHs.225950.

3D structure databases

ProteinModelPortalQ9Y4X1.
SMRQ9Y4X1. Positions 222-445.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000286604.

Chemistry

ChEMBLCHEMBL1743321.

Protein family/group databases

CAZyGT1. Glycosyltransferase Family 1.

PTM databases

PhosphoSiteQ9Y4X1.

Polymorphism databases

DMDM296452854.

Proteomic databases

PaxDbQ9Y4X1.
PRIDEQ9Y4X1.

Protocols and materials databases

DNASU10941.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286604; ENSP00000286604; ENSG00000173610. [Q9Y4X1-5]
ENST00000457664; ENSP00000387888; ENSG00000271271. [Q9Y4X1-2]
ENST00000503640; ENSP00000424478; ENSG00000173610. [Q9Y4X1-1]
ENST00000514019; ENSP00000425497; ENSG00000270386. [Q9Y4X1-4]
GeneID10941.
574537.
KEGGhsa:10941.
hsa:574537.
UCSCuc003hem.4. human. [Q9Y4X1-1]
uc010ihs.3. human. [Q9Y4X1-2]
uc021xox.1. human. [Q9Y4X1-3]

Organism-specific databases

CTD10941.
574537.
GeneCardsGC04M070454.
GC04M070489.
H-InvDBHIX0031395.
HGNCHGNC:12542. UGT2A1.
HGNC:28183. UGT2A2.
HPAHPA017261.
MIM604716. gene.
neXtProtNX_Q9Y4X1.
PharmGKBPA37184.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1819.
HOGENOMHOG000220831.
HOVERGENHBG004033.
InParanoidQ9Y4X1.
KOK00699.
OMAFYKEMAK.
OrthoDBEOG7GBFWS.
PhylomeDBQ9Y4X1.
TreeFamTF315472.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ9Y4X1.
CleanExHS_UGT2A1.
GenevestigatorQ9Y4X1.

Family and domain databases

InterProIPR002213. UDP_glucos_trans.
[Graphical view]
PANTHERPTHR11926. PTHR11926. 1 hit.
PfamPF00201. UDPGT. 1 hit.
[Graphical view]
PROSITEPS00375. UDPGT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiUGT2A1.
UGT2A2.
NextBio35534862.
PROQ9Y4X1.
SOURCESearch...

Entry information

Entry nameUD2A1_HUMAN
AccessionPrimary (citable) accession number: Q9Y4X1
Secondary accession number(s): B4E2F4 expand/collapse secondary AC list , D3GER1, D3GER2, E9PDM7, J3KNA3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM