2. Gene
  3. FTCD - formimidoyltransferase cyclodeaminase Gene

FTCD - formimidoyltransferase cyclodeaminase Gene

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

中文名称：甲酰氨基转移酶环化脱氨酶

种属: Homo sapiens

同用名: LCHC1

基因 ID: 10841 | 基因类型: protein coding

关于 FTCD

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,136,262-46,155,579 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 197 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in liver (RPKM 54.7), kidney (RPKM 35.5) and 1 other tissue.

功能概要

由该基因编码的蛋白质是一种双功能酶，可将 1 个碳单位从组氨酸降解途径的代谢物甲亚氨基谷氨酸输送到叶酸库。该基因的突变与谷氨酸甲氨基转移酶缺乏症有关。已发现该基因的可变剪接转录本变体。[RefSeq 提供，2009 年 12 月]

The protein encoded by this gene is a bifunctional Enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]

FTCD 基因产物(3)

mRNA Protein Name
NM_001320412.2 NP_001307341.1 formimidoyltransferase-cyclodeaminase isoform C
NM_006657.3 NP_006648.1 formimidoyltransferase-cyclodeaminase isoform A
NM_206965.2 NP_996848.1 formimidoyltransferase-cyclodeaminase isoform A
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 glutamate formimidoyltransferase activity IDA
IDA: 通过直接分析推断
12815595 GOA
enables microtubule binding IDA
IDA: 通过直接分析推断
14697341 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
14697341 GOA
located in cytosol IDA
IDA: 通过直接分析推断
14697341 GOA
located in smooth endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
14697341 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

FTCD 蛋白结构

FTCD_N

FTCD_N: Formiminotransferase domain, N-terminal subdomain (3 - 180)

FTCD

FTCD: Formiminotransferase domain (181 - 325)

FTCD_C

FTCD_C: Formiminotransferase-cyclodeaminase (339 - 521)

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

formimidoyltransferase-cyclodeaminase

formiminotransferase-cyclodeaminase

重组 FTCD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76352 FTCD Protein, Human (sf9, His) O95954-1 (M1-E541) ≥95%

关联疾病

疾病名称 别名
Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria

Formiminotransferase Deficiency

FIGLU-URIA

Arakawa Syndrome 1

Formiminoglutamic Acidemia

Formiminotransferase Cyclodeaminase Deficiency

Formiminotransferase Deficiency Syndrome

Ftcd Deficiency

Formiminoglutamicaciduria

Figluria
Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune
Schindler Disease, Type I

Schindler Disease Type 1

Alpha-N-Acetylgalactosaminidase Deficiency Type 1

Schindler Disease Type 3

Alpha-N-Acetylgalactosaminidase Deficiency Type 3

Naga Deficiency Type 3

Neuroaxonal Dystrophy, Schindler Type

Naga Deficiency Type 1

Alpha-N-Acetylgalactosaminidase Deficiency, Type I

Naga Deficiency, Type I

Schindler Disease, Type Iii

N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii

Alpha-N-Acetylgalactosaminidase Deficiency, Type 1

Naga Deficiency, Type 1

Schindler Disease Type I

Schindler Disease

SCHIND

Schindler Disease, Type 3

Schindler Disease, Type 1
Amelogenesis Imperfecta, Type Ib

AI1B

Aih2

Amelogenesis Imperfecta Type 1b

Amelogenesis Imperfecta Type Ib

Hereditary Localized Enamel Hypoplasia

Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local

Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant

Enamel Hypoplasia, Hereditary Localized

Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta

Amelogenesis Imperfecta 1b

Amelogenesis Imperfecta Hypoplastic 2

Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant
Amelogenesis Imperfecta, Type Ie

Aih1

Amelogenesis Imperfecta Type 1e

AI1E

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

Enamel Hypoplasia, X-Linked

Amelogenesis Imperfecta Type Ie

Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

Enamel Hypoplasia X-Linked

Amelogenesis Imperfecta, X-Linked 1

Amelogenesis Imperfecta, Type 1e

Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

X-Linked Amelogenesis Imperfecta 1

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

X-Linked Enamel Hypoplasia

Amelogenesis Imperfecta X-Linked 1

Amelogenesis Imperfecta 1e

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

Xai

X-Linked Amelogenesis Imperfecta

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I
Trombiculiasis
Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency
Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome
Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism
Substance Dependence
Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05132 FTCD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus FTCD MGD MGI:1339962
Macaca mulatta FTCD VGNC VGNC:72825
Bos taurus FTCD VGNC VGNC:29137
Rattus norvegicus FTCD RGD RGD:70915
Felis catus FTCD VGNC VGNC:62383
Canis familiaris FTCD VGNC VGNC:41002
Others FTCD NCBI
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