2. Gene
  3. AGTPBP1 - ATP/GTP binding carboxypeptidase 1 Gene

AGTPBP1 - ATP/GTP binding carboxypeptidase 1 Gene

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

中文名称：ATP/GTP 结合羧肽酶 1

种属: Homo sapiens

同用名: CCP1; NNA1; CONDCA

基因 ID: 23287 | 基因类型: protein coding

关于 AGTPBP1

Cytogenetic location: 9q21.33 Genomic coordinates (GRCh38): 9:85,546,539-85,805,483 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 7.2), brain (RPKM 4.8) and 23 other tissues.

功能概要

NNA1 是一种锌羧肽酶，包含核定位信号和 ATP/GTP 结合基序，最初是从小鼠的再生脊髓神经元中克隆出来的。[OMIM 提供，2002 年 7 月]

NNA1 is a zinc Carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]

AGTPBP1 基因产物(4)

mRNA Protein Name
NM_001286715.1 NP_001273644.1 cytosolic carboxypeptidase 1 isoform a
NM_001286717.1 NP_001273646.1 cytosolic carboxypeptidase 1 isoform c
NM_001330701.2 NP_001317630.1 cytosolic carboxypeptidase 1 isoform d
NM_015239.3 NP_056054.2 cytosolic carboxypeptidase 1 isoform b
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 metallocarboxypeptidase activity IDA
IDA: 通过直接分析推断
22170066 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in C-terminal protein deglutamylation IDA
IDA: 通过直接分析推断
22170066 GOA
involved in protein deglutamylation IMP
IMP: 通过突变表型推断
30420557 GOA
involved in protein side chain deglutamylation IDA
IDA: 通过直接分析推断
22170066 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
23085998 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23085998 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

AGTPBP1 蛋白结构

Peptidase_M14

Peptidase_M14: Zinc carboxypeptidase (874 - 1107)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1226 a.a.
蛋白主名 其他名称

cytosolic carboxypeptidase 1

ATP/GTP binding protein 1

关联疾病

疾病名称 别名
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy

CONDCA
Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1

PCH1E

Norman Disease

Pch1

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia Type 1e

Pontocerebellar Hypoplasia 1e

Doid:0112322

Doid:0112330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures

NEDCAS

Neurodevelopmental Disorder With Cerebellar Atrophy, With/Without Seizures
Retinitis Pigmentosa 75

RP75

Retinitis Pigmentosa, Type 75
Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal
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-RS00467 AGTPBP1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris AGTPBP1 VGNC VGNC:37719
Mus musculus AGTPBP1 MGD MGI:2159437
Rattus norvegicus AGTPBP1 RGD RGD:1306307
Macaca mulatta AGTPBP1 VGNC VGNC:69622
Felis catus AGTPBP1 VGNC VGNC:59691
Bos taurus AGTPBP1 VGNC VGNC:25744
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