• Gene id: 54576

Gene Summary

• Gene Symbol: UGT1A8   Gene   UCSC   Ensembl
• Aliases: GNT1, UDPGT, UDPGT 1-8, UGT-1A, UGT-1H, UGT1, UGT1-01, UGT1-08, UGT1.1, UGT1.8, UGT1A, UGT1A1, UGT1A8S, UGT1H, hUG-BR1
• Gene name: UDP glucuronosyltransferase family 1 member A8
• Alternate names: UDP-glucuronosyltransferase 1-8, Bilirubin-specific UDPGT isozyme 1, UDP glucuronosyltransferase 1 family, polypeptide A8, UDP glycosyltransferase 1 family, polypeptide A8, UDP-glucuronosyltransferase 1 family polypeptide A8s, UDP-glucuronosyltransferase 1-1, U,
• Gene location: 2q37.1 (233617644: 233773298)     Exons: 5     NC_000002.12
• Gene summary(Entrez): This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a comp
• OMIM: 606433

Protein Summary

• Protein general information: Q9HAW9  
  • Name: UDP glucuronosyltransferase 1 8 (UDPGT 1 8) (UGT1*8) (UGT1 08) (UGT1.8) (EC 2.4.1.17) (UDP glucuronosyltransferase 1 H) (UGT 1H) (UGT1H) (UDP glucuronosyltransferase 1A8)
  • Length: 530  
  • Mass: 59742
  • Tissue specificity: Colon specific. Isoform 1 and 2 are expressed in liver, kidney, colon and small intestine; isoform 2 but not isoform 1 is expressed in liver (PubMed
• Sequence:

  MARTGWTSPIPLCVSLLLTCGFAEAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLGKSLNCTVK
  TYSTSYTLEDLDREFMDFADAQWKAQVRSLFSLFLSSSNGFFNLFFSHCRSLFNDRKLVEYLKESSFDAVFLDPF
  DACGLIVAKYFSLPSVVFARGIACHYLEEGAQCPAPLSYVPRILLGFSDAMTFKERVRNHIMHLEEHLFCQYFSK
  NALEIASEILQTPVTAYDLYSHTSIWLLRTDFVLDYPKPVMPNMIFIGGINCHQGKPLPMEFEAYINASGEHGIV
  VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGV
  YESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVE
  PLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAH
  KSKTH

• Structural information:
  • Interpro: IPR002213  IPR035595  
  • Prosite: PS00375
  • STRING: ENSP00000362549
• Other Databases: GeneCards:  UGT1A8  Malacards:  UGT1A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0052697	xenobiotic glucuronidation	IBA	biological process
GO:0052696	flavonoid glucuronidation	IBA	biological process
GO:0008194	UDP-glycosyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0004857	enzyme inhibitor activity	IDA	molecular function
GO:0005504	fatty acid binding	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0001972	retinoic acid binding	IC	molecular function
GO:0005496	steroid binding	IDA	molecular function
GO:0042573	retinoic acid metabolic process	IC	biological process
GO:0045922	negative regulation of fatty acid metabolic process	IC	biological process
GO:0045939	negative regulation of steroid metabolic process	IC	biological process
GO:0052697	xenobiotic glucuronidation	IDA	biological process
GO:0006631	fatty acid metabolic process	IC	biological process
GO:0008202	steroid metabolic process	IC	biological process
GO:0009804	coumarin metabolic process	IC	biological process
GO:0051552	flavone metabolic process	IDA	biological process
GO:0052696	flavonoid glucuronidation	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00982	Drug metabolism - cytochrome P450
hsa00830	Retinol metabolism
hsa00140	Steroid hormone biosynthesis
hsa00860	Porphyrin and chlorophyll metabolism
hsa00040	Pentose and glucuronate interconversions
hsa00053	Ascorbate and aldarate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq