ADI1 - acireductone dioxygenase 1 Gene

Also Known as ARD; APL1; ARD'; SIPL; mtnD; Fe-ARD; MTCBP1; Ni-ARD; HMFT1638

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55256

About ADI1

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:3,497,366-3,519,531 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele and 195 orthologues. Ubiquitous expression in liver (RPKM 66.3), kidney (RPKM 48.9) and 24 other tissues.

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]

ADI1 Products (2)

mRNA Protein Name
NM_001306077.2 NP_001293006.1 acireductone dioxygenase isoform 2
NM_018269.4 NP_060739.2 acireductone dioxygenase isoform 1

ADI1 Protein Structure

ARD

ARD: ARD/ARD' family (3 - 157)

  • 0
  • 100
  • 179 a.a.
Protein Preferred Names Protein Names

acireductone dioxygenase

  • MT1-MMP cytoplasmic tail-binding protein-1

ADI1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ADI1 Q9BV57 APPL1 Homo sapiens Q9UKG1 32296183
Intra
ADI1 Q9BV57 APPL1 Homo sapiens Q9UKG1 32296183
Intra
ADI1 Q9BV57 APPL1 Homo sapiens Q9UKG1 32296183
Intra
ADI1 Q9BV57 MMP14 Homo sapiens P50281 14718544
Intra
ADI1 Q9BV57 MMP14 Homo sapiens P50281 14718544
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
  • CMTX6

  • Charcot-Marie-Tooth Disease X-Linked Dominant 6

  • Cmt6x

  • X-Linked Charcot-Marie-Tooth Disease Type 6

  • Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6

  • Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6

  • Charcot-Marie-Tooth Neuropathy X-Linked 6

  • Charcot-Marie-Tooth Disease, X-Linked, Type 6

Leber Optic Atrophy And Dystonia
  • LDYT

  • Marsden Syndrome

  • Leber Hereditary Optic Neuropathy With Dystonia

  • Leber Hereditary Optic Neuropathy And Dystonia

  • Familial Dystonia With Visual Failure And Striatal Lucencies

  • Dystonia, Familial, With Visual Failure And Striatal Lucencies

  • Leber Optic Atrophy With Dystonia

  • Dystonia Familial, With Visual Failure And Striatal Lucencies

  • Lhon And Dystonia

  • Leber'S Hereditary Optic Neuropathy With Dystonia

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ADI1 VGNC VGNC:79982
Mus musculus ADI1 MGD MGI:2144929
Macaca mulatta ADI1 VGNC VGNC:69738
Rattus norvegicus ADI1 RGD RGD:727828
Bos taurus ADI1 VGNC VGNC:25675
Others ADI1 NCBI