1. Gene
  2. ALDH7A1 - aldehyde dehydrogenase 7 family member A1 Gene

ALDH7A1 - aldehyde dehydrogenase 7 family member A1 Gene

中文名称:醛脱氢酶 7 家族成员 A1

种属: Homo sapiens

同用名: EPD; PDE; ATQ1

基因 ID: 501 | 基因类型: protein coding

关于 ALDH7A1

Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:126,541,841-126,595,219 (from NCBI)

This gene has 37 transcripts (splice variants), 205 orthologues, 17 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.7), liver (RPKM 24.1) and 24 other tissues.

功能概要

该基因编码的蛋白质是乙醛脱氢酶基因家族第 7 亚家族的成员。这些酶被认为在酒精代谢和脂质过氧化产生的醛的解毒中起主要作用。该特定成员与先前描述的来自绿色豌豆的蛋白质具有同源性,即 26g 豌豆膨压蛋白。它还参与已知在线粒体基质中发生的赖氨酸分解代谢。最近的报告表明,这种蛋白质存在于胞质溶胶和线粒体中,这两种形式可能是由于使用了替代翻译起始位点而产生的。还发现了该基因的另一种编码不同亚型的变体。该基因的突变与吡哆醇依赖性癫痫有关。还鉴定了几个相关的假基因。[RefSeq 提供,2011 年 1 月]

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These Enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]

ALDH7A1 基因产物(3)

mRNA Protein Name
NM_001182.5 NP_001173.2 alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor
NM_001201377.2 NP_001188306.1 alpha-aminoadipic semialdehyde dehydrogenase isoform 2
NM_001202404.2 NP_001189333.2 alpha-aminoadipic semialdehyde dehydrogenase isoform 3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables aldehyde dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
20207735 GOA
enables betaine-aldehyde dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
20207735 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
20207735 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21988832 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
20207735 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
20207735 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ALDH7A1 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (64 - 520)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 539 a.a.
蛋白主名 其他名称

alpha-aminoadipic semialdehyde dehydrogenase

26g turgor protein homolog

ALDH7A1 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
Intra ALDH7A1 P49419 EPS8 Homo sapiens Q12929
Y2H
21988832
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ALDH7A1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76140 ALDH7A1 Protein, Human (His) P49419-2 (S2-Q511) ≥95%

关联疾病

疾病名称 别名
Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy

PDE

Pyridoxine Dependency With Seizures

Vitamin B6-Dependent Seizures

EPD

Aasa Dehydrogenase Deficiency

Antiquitin Deficiency

Pyridoxine Dependency

Glutamate Decarboxylase Deficiency

Pyridoxine-Dependent Seizures

Deficiency Of Glutamate Decarboxylase

Hydrocephalus, Congenital, 1

Hydrocephaly

Ventriculomegaly

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

HYC1

Congenital Non-Communicating Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly

Congenital Obstructive Hydrocephalus

Hydrocephalus, Non-Syndromic, Autosomal Recessive 1

Hydrocephalus

Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13

DEE13

Eiee13

Developmental And Epileptic Encephalopathy, 13

Early Infantile Epileptic Encephalopathy 13

Scn8a Encephalopathy

Early Infantile Epileptic Encephalopathy-13

Scn8a Epilepsy

Encephalopathy, Developmental And Epileptic, Type 13

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Pnpo Deficiency

Pyridoxamine 5'-Phosphate Oxidase Deficiency

Pnpo-Related Neonatal Epileptic Encephalopathy

Pyridoxal Phosphate-Responsive Seizures

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Pyridoxine-5'-Phosphate Oxidase Deficiency

PNPOD

Seizures, Pyridoxine-Resistant, Plp-Sensitive

Pyridoxal Phosphate-Dependent Seizures

Pyridoxamine 5'-Oxidase Deficiency

Epileptic Encephalopathy, Neonatal, Pnpo-Related

Pyridox Ine 5'-Phosphate Oxidase Deficiency

Deficiency, Pyridoxamine 5'-Phosphate Oxidase

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Hyperprolinemia, Type Ii

Hyperprolinemia Type 2

HYRPRO2

Hpii

1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Hyperprolinemia Type Ii

1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Type 2 Hyperprolinemia

Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Hyperprolinemia 2

Nonarteritic Anterior Ischemic Optic Neuropathy

Anterior Ischemic Optic Neuropathy

Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To

NAION

Non-Arteritic Anterior Ischemic Optic Neuropathy

Ischemic Optic Neuropathy

Aion

Optic Neuropathy, Ischemic

Naion, Susceptibility To

Optic Neuropathy, Anterior Ischemic

Optic Neuropathy, Anterior Ischemic, Susceptibility To

Non-Arteritic Anterior Ischaemic Optic Neuropathy

Nonarteritic Anterior Ischaemic Optic Neuropathy

Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To

Ion - [Ischemic Optic Neuropathy]

Neuropathic Ischaemia Of N.Opticus

Ischaemic Neuropathy Of Optic Nerve

Null-Cell Leukemia

Null Cell Acute Lymphoblastic Leukemia

Null Cell Acute Lymphoblastic Leukaemia

Null-Cell Leukaemia

Status Epilepticus

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus

Retinitis Pigmentosa 72

RP72

Retinitis Pigmentosa, Type 72

Hyperprolinemia

Proline Oxidase Deficiency

Hyperprolinemia Type 1

Proline Hydrogenase Deficiency

Prolinemia

Pyrroline Carboxylate Dehydrogenase Deficiency

Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Proline Dehydrogenase Deficiency

Hyperprolinemia Type 2

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria

Ssadh Deficiency

Gamma-Hydroxybutyric Aciduria

Gaba Metabolic Defect

SSADHD

Ssadh

Succinate-Semialdehyde Dehydrogenase Deficiency

Gamma-Hydroxybutyricaciduria

4-Hydroxybutyricaciduria

Gamma-Hydroxybutyric Acidemia

Succinate Semialdehyde Dehydrogenase Deficiency

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism

Disorder Of Gaba Metabolism

Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Psychosexual Disorder

Psychosexual Disorders

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency

Mocod

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

Deficiency Of Molybdenum Cofactor

Deficiency, Molybdenum Cofactor

Acrodysostosis

Acrodysplasia

Arkless-Graham Syndrome

Maroteaux-Malamut Syndrome

Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Developmental And Epileptic Encephalopathy 21

DEE21

Epileptic Encephalopathy, Early Infantile, 21

Eiee21

Developmental And Epileptic Encephalopathy, 21

Early Infantile Epileptic Encephalopathy 21

Encephalopathy, Epileptic, Early Infantile, Type 21

Penile Disease

Penile Diseases

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Retinitis Pigmentosa 90

RP90

Retinitis Pigmentosa, Type 90

Rapp-Hodgkin Syndrome

RHS

Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

Ectodermal Dysplasia, Rapp-Hodgkin Type

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

Edrh

Rapp-Hodgkin Ectodermal Dysplasia

Orofacial Cleft 8

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Capillary Lymphangioma

Microcystic Lymphatic Malformation

Capillary Lymphatic Malformation

Microcystic Infiltrating Lymphatic Malformation

Microcystic Lymphangioma

Superficial Lymphangioma

Cutaneous Lymphangioma Circumscriptum

Superficial Lymphatic Malformation

Cutaneous Lymphangioma

Lymphangioma Of Skin

Lymphangioma Circumscriptum

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Mus musculus ALDH7A1 MGD MGI:108186
Felis catus ALDH7A1 VGNC VGNC:68749
Macaca mulatta ALDH7A1 VGNC VGNC:110486
Bos taurus ALDH7A1 VGNC VGNC:25818
Canis familiaris ALDH7A1 VGNC VGNC:37789
Rattus norvegicus ALDH7A1 RGD RGD:1308614
Others ALDH7A1 NCBI