2. Gene
  3. ALDH1A3 - aldehyde dehydrogenase 1 family member A3 Gene

ALDH1A3 - aldehyde dehydrogenase 1 family member A3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：醛脱氢酶 1 家族成员 A3

种属: Homo sapiens

同用名: ALDH6; MCOP8; RALDH3; ALDH1A6

基因 ID: 220 | 基因类型: protein coding

关于 ALDH1A3

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:100,879,831-100,916,626 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 17 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 82.4), urinary bladder (RPKM 32.4) and 14 other tissues.

功能概要

该基因编码以视黄醛为底物的醛脱氢酶。该基因的突变与孤立的小眼症有关 8，并且还在肿瘤细胞中检测到表达变化。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 6 月]

This gene encodes an aldehyde dehydrogenase Enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ALDH1A3 基因产物(2)

mRNA Protein Name
NM_000693.4 NP_000684.2 aldehyde dehydrogenase family 1 member A3 isoform 1
NM_001293815.2 NP_001280744.1 aldehyde dehydrogenase family 1 member A3 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 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(P)+] activity IDA
IDA: 通过直接分析推断
11585737 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11585737 GOA
enables retinal dehydrogenase activity IDA
IDA: 通过直接分析推断
27759097 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
27759097 GOA
involved in retinal metabolic process IDA
IDA: 通过直接分析推断
11585737 GOA
involved in retinoic acid biosynthetic process IDA
IDA: 通过直接分析推断
27759097 GOA
involved in retinoic acid metabolic process IDA
IDA: 通过直接分析推断
11585737 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11585737 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

ALDH1A3 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (40 - 503)

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

aldehyde dehydrogenase family 1 member A3

acetaldehyde dehydrogenase 6

重组 ALDH1A3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7476 ALDH1A3 Protein, Human (His) P47895 (M1-P512) ≥95%

关联疾病

疾病名称 别名
Microphthalmia, Isolated 8

MCOP8

Isolated Microphthalmia 8

Microphthalmia, Isolated, 8

Microphthalmia, Isolated, Type 8
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
Nanophthalmos

Nanophthalmia
Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome

Mac

Microphthalmia With Colobomatous Cyst

Microphthalmia-Anophthalmia-Coloboma Syndrome

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia And Mental Deficiency
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Isolated Microphthalmia
Microphthalmia, Syndromic 9

Matthew-Wood Syndrome

Spear Syndrome

Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

Microphthalmia, Isolated, With Coloboma 8

MCOPS9

Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

Pdac

Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

Pmd

Syndromic Microphthalmia 9

Anophthalmia-Pulmonary Hypoplasia Syndrome

Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

Microphthalmia Syndromic 9

Matthew Wood Syndrome

Pdac Syndrome

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

Microphthalmia, Isolated, With Coloboma, 8

MCOPCB8

Isolated Colobomatous Microphthalmia 8

Microphthalmia, Syndromic, 9

Anophthalmia With Pulmonary Hypoplasia

Microphthalmia Syndromic, Type 9

Anophthalmia And Pulmonary Hypoplasia
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
Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
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

相关产品

Pre-clinical Phase
生物活性分子 (10)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-W015273A trans-3-Indoleacrylic acid Inhibitor 99.45% 否
HY-W017186 ALDH1A3-IN-3 Inhibitor 99.12% 否
HY-144667 ALDH1A3-IN-1 Inhibitor 98.43% 否
HY-135841 CM010 Inhibitor 98.07% 否
HY-144669 ALDH1A3-IN-2 Inhibitor 99.28% 否
HY-122912 ALDH1A inhibitor 673A 98.81% 否
HY-125085 ALDH3A1-IN-3 Inhibitor 99.30% 否
HY-158026 ALDH1A1-IN-5 Inhibitor / 否
HY-159111 KS124 / 否
HY-RS00564 ALDH1A3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ALDH1A3 VGNC VGNC:81353
Canis familiaris ALDH1A3 VGNC VGNC:37784
Rattus norvegicus ALDH1A3 RGD RGD:628662
Mus musculus ALDH1A3 MGD MGI:1861722
Bos taurus ALDH1A3 VGNC VGNC:59168
Felis catus ALDH1A3 VGNC VGNC:80778
Others ALDH1A3 NCBI
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