ADI1 acireductone dioxygenase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Acireductone dioxygenase 1 (ADI1) is regulated by cellular iron by a mechanism involving the iron chaperone, PCBP1, with PCBP2 acting as a potential co-chaperone.
Title: Acireductone dioxygenase 1 (ADI1) is regulated by cellular iron by a mechanism involving the iron chaperone, PCBP1, with PCBP2 acting as a potential co-chaperone.
Pancreatic tumor cell metastasis is restricted by MT1-MMP binding protein MTCBP-1.
Title: Pancreatic tumor cell metastasis is restricted by MT1-MMP binding protein MTCBP-1.
High ADI1 expression is associated with malignant glioma.
Title: Enolase-phosphatase 1 as a novel potential malignant glioma indicator promotes cell proliferation and migration.
The thermal stability of the HsARD isozymes is a function of the metal ion identity, with Ni2+-bound HsARD being the most stable followed by Co2+ and Fe2+, and Mn2+-bound HsARD being the least stable.
Title: Dual chemistry catalyzed by human acireductone dioxygenase.
In summary, clinical and cell-based experiments suggested that physical interaction between MT1-MMP and ADI1 led to suppression of hepatitis C virus infection. This inhibitory effect could be reversed by ADI1 overexpression.
Title: Interaction between hepatic membrane type 1 matrix metalloproteinase and acireductone dioxygenase 1 regulates hepatitis C virus infection.
Data elucidate a new role for MTCBP-1 regulating the intracellular function of MT1-MMP-mediated autophagy. Their inverse expression correlation with brain tumor grades could also contribute to the decreased autophagic index observed in high-grade tumors.
Title: Evidence of MTCBP-1 interaction with the cytoplasmic domain of MT1-MMP: Implications in the autophagy cell index of high-grade glioblastoma.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
293-ADI1-CD81 cells are permissive for serum-derived HCV infection.
Title: 293 cells over-expressing human ADI1 and CD81 are permissive for serum-derived hepatitis C virus infection.
ADI1 may check prostate cancer progression through apoptosis by an activity that does not require metal binding.
Title: Expression and function of the human androgen-responsive gene ADI1 in prostate cancer.
MTCBP-1 is a new member of the Cupin superfamily with a role as an invasion suppressor down-regulated in tumors
Title: Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein-1 is a new member of the Cupin superfamily. A possible multifunctional protein acting as an invasion suppressor down-regulated in tumors.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

RH12407 (e-PCR)
- UniSTS:26000

G43260 (e-PCR)
- UniSTS:94907

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

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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

EC 1.13.11.53

EC 1.13.11.54

NP_060739.2

EC 1.13.11.53

EC 1.13.11.54

NCBI Reference Sequences (RefSeq)

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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)

NM_001306077.2 → NP_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:31 → 151

cupin_like; Conserved domain found in cupin and related proteins
NM_018269.4 → NP_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:28 → 157

cupin_ARD; acireductone dioxygenase (ARD), cupin domain