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ADO 2-aminoethanethiol dioxygenase [ Homo sapiens (human) ]

Gene ID: 84890, updated on 7-Oct-2019

Summary

Official Symbol
ADOprovided by HGNC
Official Full Name
2-aminoethanethiol dioxygenaseprovided by HGNC
Primary source
HGNC:HGNC:23506
See related
Ensembl:ENSG00000181915 MIM:611392
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C10orf22
Summary
Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]
Orthologs

Genomic context

See ADO in Genome Data Viewer
Location:
10q21.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (62804720..62808479)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (64564516..64568239)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 365 Neighboring gene uncharacterized LOC105378327 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 4 Neighboring gene early growth response 2 Neighboring gene uncharacterized LOC107984012

Genomic regions, transcripts, and products

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
NHGRI GWA Catalog
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14547, DKFZp564C046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteamine dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sulfur amino acid catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
2-aminoethanethiol dioxygenase
Names
2-aminoethanethiol (cysteamine) dioxygenase
cysteamine (2-aminoethanethiol) dioxygenase (ADO)
cysteamine dioxygenase
NP_116193.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032804.6NP_116193.2  2-aminoethanethiol dioxygenase

    See identical proteins and their annotated locations for NP_116193.2

    Status: VALIDATED

    Source sequence(s)
    AK127694, AL133417, BC028589, BC067740
    Consensus CDS
    CCDS7266.2
    UniProtKB/Swiss-Prot
    Q96SZ5
    UniProtKB/TrEMBL
    B3KXN9
    Related
    ENSP00000362888.1, ENST00000373783.3
    Conserved Domains (1) summary
    pfam07847
    Location:57268
    PCO_ADO; PCO_ADO

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    62804720..62808479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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