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    ADI1 acireductone dioxygenase 1 [ Homo sapiens (human) ]

    Gene ID: 55256, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:30576
    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; ARD'; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADI1 in Genome Data Viewer
    Location:
    2p25.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (3497366..3519531, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (3519420..3541579, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (3501137..3523302, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11109 Neighboring gene trafficking protein particle complex subunit 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3402817-3403742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3403743-3404668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3404669-3405592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3415840-3416340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3416341-3416841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3434408-3434908 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:3437307-3437557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3463593-3464106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3464459-3465326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3475415-3475916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3475917-3476416 Neighboring gene TRAPPC12 antisense RNA 1 Neighboring gene uncharacterized LOC112268321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11111 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3522968-3523489 Neighboring gene uncharacterized LOC124907725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3523490-3524010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15230 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:3583482-3584681 Neighboring gene ribonuclease H1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15231

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Clone Names

    • FLJ10913

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acireductone dioxygenase (Ni2+-requiring) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables acireductone dioxygenase [iron(II)-requiring] activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nickel cation binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-methionine salvage from methylthioadenosine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-methionine salvage from methylthioadenosine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methionine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    acireductone 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)

    NEW Try the new Transcript table

    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  acireductone 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  acireductone 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
      D6W4Y3, Q53HW3, Q53QD3, Q57YV7, Q68CK2, Q6ZSF7, Q7Z512, Q96P85, Q9BV57, Q9NV57
      Related
      ENSP00000333666.3, ENST00000327435.11
      Conserved Domains (1) summary
      cd02232
      Location:28157
      cupin_ARD; acireductone dioxygenase (ARD), cupin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187522.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      3519420..3541579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)