1. Gene
  2. AMT - aminomethyltransferase Gene

AMT - aminomethyltransferase Gene

中文名称:氨甲基转移酶

种属: Homo sapiens

同用名: GCE; NKH; GCST; GCVT

基因 ID: 275 | 基因类型: protein coding

关于 AMT

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,416,778-49,422,473 (from NCBI)

This gene has 57 transcripts (splice variants), 213 orthologues, 10 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 16.6), liver (RPKM 14.9) and 25 other tissues.

功能概要

该基因编码甘氨酸裂解系统的四个关键组成部分之一。该基因的突变与甘氨酸脑病有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 9 月]

This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

AMT 基因产物(4)

mRNA Protein Name
NM_000481.4 NP_000472.2 aminomethyltransferase, mitochondrial isoform 1 precursor
NM_001164710.2 NP_001158182.1 aminomethyltransferase, mitochondrial isoform 2 precursor
NM_001164711.2 NP_001158183.1 aminomethyltransferase, mitochondrial isoform 3 precursor
NM_001164712.2 NP_001158184.1 aminomethyltransferase, mitochondrial isoform 4 precursor
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 aminomethyltransferase activity IMP
IMP: 通过突变表型推断
16051266 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycine decarboxylation via glycine cleavage system IMP
IMP: 通过突变表型推断
16051266 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

AMT 蛋白结构

GCV_T

GCV_T: Aminomethyltransferase folate-binding domain (78 - 291)

GCV_T_C

GCV_T_C: Glycine cleavage T-protein C-terminal barrel domain (301 - 392)

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

aminomethyltransferase, mitochondrial

glycine cleavage system T protein

关联疾病

疾病名称 别名
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

Atypical Glycine Encephalopathy

Atypical Nka

Atypical Non-Ketotic Hyperglycinemia

Carrion'S Disease

Oroya Fever

Carrion Disease

Bartonellosis Due To Bartonella Bacilliformis Infection

Bartonella Infections

Systemic Bartonellosis Due To Bartonella Bacilliformis

Systemic Carrión Disease

Systemic Bartonellosis

Bartonella Fever

Hypoinsulinemic Hypoglycemia With Hemihypertrophy

Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy

HIHGHH

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Phosphoserine Aminotransferase Deficiency

Psat Deficiency

PSATD

Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

Psat Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoserine Aminotransferase

Pentosuria

Xylitol Dehydrogenase Deficiency

L-Xylulosuria

L-Xylulose Reductase Deficiency

Essential Pentosuria

PNTSU

Essential Benign Pentosuria

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

Cutis Laxa, Autosomal Dominant 3

ADCL3

Autosomal Dominant Cutis Laxa 3

Cutis Laxa, Autosomal Dominant, 3

Cystathioninuria

Cystathionase Deficiency

Gamma-Cystathionase Deficiency

Cystathione Gamma-Lyase Deficiency Syndrome

Cystathionine Gamma-Lyase Deficiency Syndrome

CSTNU

Thyroid Dyshormonogenesis 6

TDH6

Genetic Defect In Thyroid Hormonogenesis 6

Thyroid Hormonogenesis, Genetic Defect In, 6

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6

Chdh6

Congenital Hypothyroidism Due To Dyshormonogenesis Type 6

Cutis Laxa, Autosomal Dominant 2

ADCL2

Autosomal Dominant Cutis Laxa 2

Cutis Laxa, Autosomal Dominant, 2

Cutis Laxa, Autosomal Dominant, Type 2

Frank-Ter Haar Syndrome

Ter Haar Syndrome

Borrone Dermatocardioskeletal Syndrome

FTHS

Autosomal Recessive Melnick-Needles Syndrome

Borrone Di Rocco Crovato Syndrome

Megalocornea, Multiple Skeletal Anomalies, And Developmental Delay

Melnick-Needles Syndrome, Autosomal Recessive, Formerly

Frank Ter Haar Syndrome

Sucrase-Isomaltase Deficiency, Congenital

Congenital Sucrase-Isomaltase Deficiency

CSID

Si Deficiency

Congenital Sucrose Intolerance

Disaccharide Intolerance

Sucrase-Isomaltase Deficiency

Disaccharide Intolerance I

Congenital Sucrose-Isomaltose Malabsorption

Sucrose-Isomaltose Malabsorption, Congenital

Sucrose Intolerance, Congenital

Congenital Sucrase-Isomaltose Malabsorption

Congenital Sucrose-Isomaltase Malabsorption

Disaccharide Intolerance, 1

Sucrose Intolerance Congenital

Sucrose-Isomaltase Malabsorption, Congenital

Disaccharidase Deficiency

Invertase Deficiency

Sucrase-Alpha-Dextrinase Deficiency

Disaccharide Intolerance Type I

Csid - [Congenital Sucrase-Isomaltase Deficiency]

Sucrose Intolerance Of Newborn

Sucrose Intolerance

Sucrase Deficiency

Disaccharide Malabsorption

Intestinal Disaccharidase Deficiency

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

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 AMT MGD MGI:3646700
Felis catus AMT VGNC VGNC:101997
Rattus norvegicus AMT RGD RGD:1359408
Canis familiaris AMT VGNC VGNC:54572
Others AMT NCBI