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ADI1 acireductone dioxygenase 1 [ Homo sapiens (human) ]

Gene ID: 55256, updated on 18-Aug-2020

Summary

Official Symbol
ADI1provided by HGNC
Official Full Name
acireductone dioxygenase 1provided by HGNC
Primary source
HGNC:HGNC:30576
See related
Ensembl:ENSG00000182551 MIM:613400
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARD; APL1; SIPL; mtnD; Fe-ARD; MTCBP1; Ni-ARD; HMFT1638
Summary
This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Expression
Ubiquitous expression in liver (RPKM 66.3), kidney (RPKM 48.9) and 24 other tissues See more
Orthologs

Genomic context

See ADI1 in Genome Data Viewer
Location:
2p25.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (3497366..3519531, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (3501690..3523350, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex 12 Neighboring gene uncharacterized LOC112268321 Neighboring gene ribonuclease H1 Neighboring gene RNASEH1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10913

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acireductone dioxygenase [iron(II)-requiring] activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
L-methionine salvage from methylthioadenosine IDA
Inferred from Direct Assay
more info
PubMed 
L-methionine salvage from methylthioadenosine IEA
Inferred from Electronic Annotation
more info
 
L-methionine salvage from methylthioadenosine TAS
Traceable Author Statement
more info
 
methionine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase
Names
MT1-MMP cytoplasmic tail-binding protein-1
acireductone dioxygenase (Fe(2+)-requiring)
acireductone dioxygenase (Ni(2+)-requiring)
membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1
submergence induced protein 2
submergence-induced protein-like factor
NP_001293006.1
NP_060739.2

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_001306077.2NP_001293006.1  1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase isoform 2

    See identical proteins and their annotated locations for NP_001293006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB073609, AC114810, AC231981, AK127473
    Consensus CDS
    CCDS77380.1
    UniProtKB/Swiss-Prot
    Q9BV57
    Related
    ENSP00000371525.5, ENST00000382093.5
    Conserved Domains (1) summary
    cl21464
    Location:31151
    cupin_like; Conserved domain found in cupin and related proteins
  2. NM_018269.4NP_060739.2  1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase isoform 1

    See identical proteins and their annotated locations for NP_060739.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB073609, AC114810, BC001467, CB129674
    Consensus CDS
    CCDS1653.1
    UniProtKB/Swiss-Prot
    Q9BV57
    Related
    ENSP00000333666.3, ENST00000327435.11
    Conserved Domains (1) summary
    pfam03079
    Location:3157
    ARD; ARD/ARD' family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    3497366..3519531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187522.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    106836..119593 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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