2. Gene
  3. ALDH1L1 - aldehyde dehydrogenase 1 family member L1 Gene

ALDH1L1 - aldehyde dehydrogenase 1 family member L1 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 L1

种属: Homo sapiens

同用名: FDH; FTHFD; 10-fTHF; 10-FTHFDH

基因 ID: 10840 | 基因类型: protein coding

关于 ALDH1L1

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:126,103,570-126,197,945 (from NCBI)

This gene has 18 transcripts (splice variants), 176 orthologues and 17 paralogues. Biased expression in liver (RPKM 99.3), kidney (RPKM 65.2) and 8 other tissues.

功能概要

该基因编码的蛋白质催化 10-甲酰四氢叶酸、烟酰胺腺嘌呤二核苷酸磷酸 (NADP+) 和水转化为四氢叶酸、NADPH 和二氧化碳。编码的蛋白质属于醛脱氢酶家族。该基因功能或表达的丧失与细胞凋亡减少、细胞运动增加和癌症进展有关。有一个反义转录物在与该基因位点相反的链上重叠。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 6 月]

The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased Apoptosis, increased cell motility, and Cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ALDH1L1 基因产物(3)

mRNA Protein Name
NM_001270364.2 NP_001257293.1 cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 1
NM_001270365.2 NP_001257294.1 cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 3
NM_012190.4 NP_036322.2 cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables formyltetrahydrofolate dehydrogenase activity IDA
IDA: 通过直接分析推断
19933275 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 10-formyltetrahydrofolate catabolic process IDA
IDA: 通过直接分析推断
19933275 GOA
involved in NADPH regeneration IDA
IDA: 通过直接分析推断
19933275 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

ALDH1L1 蛋白结构

Formyl_trans_N

Formyl_trans_N: Formyl transferase (1 - 180)

Formyl_trans_C

Formyl_trans_C: Formyl transferase, C-terminal domain (205 - 309)

PP-binding

PP-binding: Phosphopantetheine attachment site (326 - 391)

Aldedh

Aldedh: Aldehyde dehydrogenase family (430 - 898)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 902 a.a.
蛋白主名 其他名称

cytosolic 10-formyltetrahydrofolate dehydrogenase

10-formyltetrahydrofolate dehydrogenase

关联疾病

疾病名称 别名
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease

Leukoencephalopathy With Swelling And Cysts

MLC1

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Lvm

Vl

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1

Megalencephalic Leukoencephalopathy With Subcortical Cysts
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Focal Dermal Hypoplasia

Goltz Syndrome

Goltz-Gorlin Syndrome

FDH

FODH

Dhof

Goltz Gorlin Syndrome

Hypoplasia, Dermal, Focal
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
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
Pilomyxoid Astrocytoma
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 (25)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-138097 α-NETA ≥98.0% 否
HY-18768 NCT-501 Inhibitor 99.84% 否
HY-148466 IGUANA-1 Inhibitor 98.88% 否
HY-112278 NCT-506 Inhibitor 99.95% 否
HY-135841 CM010 Inhibitor 98.07% 否
HY-112277 NCT-505 Inhibitor 98.41% 否
HY-146683 KS106 99.31% 否
HY-110294 CM037 Inhibitor 99.06% 否
HY-146682 KS100 99.61% 否
HY-126003 ALDH1A1-IN-2 Inhibitor 99.31% 否
HY-122912 ALDH1A inhibitor 673A 98.81% 否
HY-148243 IGUANA-1 free base Inhibitor 99.69% 否
HY-157567 FSI-TN42 Inhibitor 98.05% 否
HY-125085 ALDH3A1-IN-3 Inhibitor 99.30% 否
HY-146240 ALDH1A1-IN-3 Inhibitor / 否
HY-155816 PROTAC NSD3 degrader-1 / 否
HY-157872 ALDH1A1-IN-4 Inhibitor / 否
HY-158026 ALDH1A1-IN-5 Inhibitor / 否
HY-159111 KS124 / 否
HY-18768A NCT-501 hydrochloride Inhibitor / 否
HY-RS00560 ALDH1A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00561 Aldh1a1 Mouse Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00562 ALDH1A1 Rat Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00565 ALDH1B1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00566 ALDH1L1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ALDH1L1 RGD RGD:621294
Macaca mulatta ALDH1L1 VGNC VGNC:81355
Mus musculus ALDH1L1 MGD MGI:1340024
Bos taurus ALDH1L1 VGNC VGNC:25811
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