1. Gene
  2. GATM - glycine amidinotransferase Gene

GATM - glycine amidinotransferase Gene

中文名称:甘氨酸脒基转移酶

种属: Homo sapiens

同用名: AT; AGAT; CCDS3; FRTS1

基因 ID: 2628 | 基因类型: protein coding

关于 GATM

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,361,124-45,402,227 (from NCBI)

This gene has 19 transcripts (splice variants), 208 orthologues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 706.9), liver (RPKM 467.2) and 8 other tissues.

功能概要

该基因编码属于脒基转移酶家族的线粒体酶。这种酶参与肌酸生物合成,从而催化胍基从 L-精氨酸转移到甘氨酸,产生胍基乙酸,这是肌酸的直接前体。该基因的突变会导致精氨酸:甘氨酸脒基转移酶缺乏症,这是一种先天性肌酸合成错误,其特征是认知障碍、语言障碍和行为障碍。[RefSeq 提供,2008 年 7 月]

This gene encodes a mitochondrial Enzyme that belongs to the amidinotransferase family. This Enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

GATM 基因产物(2)

mRNA Protein Name
NM_001321015.2 NP_001307944.1 glycine amidinotransferase, mitochondrial isoform 2
NM_001482.3 NP_001473.1 glycine amidinotransferase, mitochondrial isoform 1 precursor
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 amidinotransferase activity IDA
IDA: 通过直接分析推断
36543883 GOA
enables glycine amidinotransferase activity IDA
IDA: 通过直接分析推断
9218780 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within creatine biosynthetic process IDA
IDA: 通过直接分析推断
9218780 GOA
involved in creatine metabolic process IMP
IMP: 通过突变表型推断
26490222 GOA
involved in learning or memory IMP
IMP: 通过突变表型推断
26490222 GOA
involved in muscle atrophy IMP
IMP: 通过突变表型推断
26490222 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
9218780 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

GATM 蛋白结构

Amidinotransf

Amidinotransf: Amidinotransferase (258 - 414)

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

glycine amidinotransferase, mitochondrial

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

GATM 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
种属内
GATM P50440 ADAMTSL4 Homo sapiens Q6UY14-3
Validated Y2H
32814053
种属内
GATM P50440 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Pooling
32814053
种属内
GATM P50440 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Array
32814053
种属内
GATM P50440 GRB10 Homo sapiens Q13322-4
Validated Y2H
32814053
种属内
GATM P50440 GRB10 Homo sapiens Q13322-4
Y2H Array
32814053
种属内
GATM P50440 GRB10 Homo sapiens Q13322-4
Y2H Pooling
32814053
种属内
GATM P50440 TMEM185A Homo sapiens Q8NFB2
Validated Y2H
32814053
种属内
GATM P50440 TMEM185A Homo sapiens Q8NFB2
Y2H Array
32814053
种属内
GATM P50440 TMEM185A Homo sapiens Q8NFB2
Y2H Pooling
32814053
种属内
GATM P50440 LPIN1 Homo sapiens Q14693
Y2H Pooling
32814053
种属内
GATM P50440 LPIN1 Homo sapiens Q14693
Validated Y2H
32814053
种属内
GATM P50440 LPIN1 Homo sapiens Q14693
Y2H Array
32814053
种属内
GATM P50440 ITGB3BP Homo sapiens Q13352
Validated Y2H
32814053
种属内
GATM P50440 ITGB3BP Homo sapiens Q13352
Y2H Pooling
32814053
种属内
GATM P50440 ITGB3BP Homo sapiens Q13352
Y2H Array
32814053
种属内
GATM P50440 RPUSD4 Homo sapiens Q96CM3
Y2H Pooling
32814053
种属内
GATM P50440 RPUSD4 Homo sapiens Q96CM3
Validated Y2H
32814053
种属内
GATM P50440 RPUSD4 Homo sapiens Q96CM3
Y2H Array
32814053
种属内
GATM P50440 BECN1 Homo sapiens Q14457
Validated Y2H
32814053
种属内
GATM P50440 BECN1 Homo sapiens Q14457
Y2H Array
32814053
种属内
GATM P50440 BECN1 Homo sapiens Q14457
Y2H Pooling
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cerebral Creatine Deficiency Syndrome 3

Arginine:Glycine Amidinotransferase Deficiency

Agat Deficiency

Gatm Deficiency

Creatine Deficiency Syndrome Due To Agat Deficiency

L-Arginine:Glycine Amidinotransferase Deficiency

CCDS3

L-Arginine:Glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3

Fanconi Renotubular Syndrome 1

Renal Fanconi Syndrome

Adult Fanconi Syndrome

FRTS1

Fanconi Renotubular Syndrome

Frts

Rfs

Fanconi Syndrome Without Cystinosis

Luder-Sheldon Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency

Gamt Deficiency

Creatine Deficiency Syndrome Due To Gamt Deficiency

Deficiency Of Guanidinoacetate Methyltransferase

CCDS2

Guanidinoacetate Methyltransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 2

Language Development Disorders

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency

Creatine Transporter Defect

Slc6a8 Deficiency

X-Linked Creatine Deficiency Syndrome

CCDS1

Creatine Deficiency Syndrome, X-Linked

X-Linked Creatine Deficiency

Creatine Deficiency, X-Linked

X-Linked Creatine Transporter Deficiency

Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia

Mental Retardation, X-Linked, With Creatine Transport Deficiency

Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia

Intellectual Disability, X-Linked, With Creatine Transport Deficiency

Slc6a8-Related Creatine Transporter Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 1

Aminoaciduria
Myopathy

Muscular Diseases

Myopathies

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina

Argininemia

Hyperargininemia

Arginase Deficiency

Arg1 Deficiency

Arginase-1 Deficiency

Deficiency Of Canavanase

Arginase Deficiency Disease

ARGIN

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Urea Cycle Disorder

Urea Cycle Disorders

Urea Cycle Disorders, Inborn

Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Disorder Of Urea Cycle Metabolism

Urea Cycle Defect

Ucd

Disorder Of The Urea Cycle Metabolism

Disorder Of Urea Cycle

Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Ammonia Metabolic Disorder

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 GATM MGD MGI:1914342
Macaca mulatta GATM VGNC VGNC:72892
Felis catus GATM VGNC VGNC:62480
Canis familiaris GATM VGNC VGNC:41129
Bos taurus GATM VGNC VGNC:29274
Rattus norvegicus GATM RGD RGD:71090