1. Gene
  2. ADI1 - acireductone dioxygenase 1 Gene

ADI1 - acireductone dioxygenase 1 Gene

中文名称:acireductone 双加氧酶 1

种属: Homo sapiens

同用名: ARD; APL1; ARD'; SIPL; mtnD; Fe-ARD; MTCBP1; Ni-ARD; HMFT1638

基因 ID: 55256 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的酶属于金属结合酶的酸还原酮双加氧酶家族,参与蛋氨酸回收。这种酶可以调节细胞核中的 mRNA 加工,并且可以根据其定位执行不同的功能。相关假基因已在 8 号和 20 号染色体上定义。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2015 年 4 月]

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 基因产物(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 蛋白结构

ARD

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

  • 0
  • 100
  • 179 a.a.
蛋白主名 其他名称

acireductone dioxygenase

MT1-MMP cytoplasmic tail-binding protein-1

ADI1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ADI1 Q9BV57 APPL1 Homo sapiens Q9UKG1
Y2H Prey Pooling
32296183
种属内
ADI1 Q9BV57 APPL1 Homo sapiens Q9UKG1
Validated Y2H
32296183
种属内
ADI1 Q9BV57 APPL1 Homo sapiens Q9UKG1
Y2H Array
32296183
种属内
ADI1 Q9BV57 MMP14 Homo sapiens P50281
Confocal
14718544
种属内
ADI1 Q9BV57 MMP14 Homo sapiens P50281
Pull Down
14718544
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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