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  2. ITPA - inosine triphosphatase Gene

ITPA - inosine triphosphatase Gene

中文名称:肌苷三磷酸酶

种属: Homo sapiens

同用名: DEE35; My049; ITPase; NTPase; C20orf37; dJ794I6.3; HLC14-06-P

基因 ID: 3704 | 基因类型: protein coding

关于 ITPA

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,204,065-3,227,449 (from NCBI)

This gene has 10 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.0), lymph node (RPKM 5.7) and 25 other tissues.

功能概要

该基因编码肌苷三磷酸焦磷酸水解酶。编码的蛋白质将肌苷三磷酸和脱氧肌苷三磷酸水解为单磷酸核苷酸和二磷酸。这种蛋白质是 HAM1 NTPase 蛋白质家族的成员,存在于细胞质中并作为同型二聚体。编码蛋白的缺陷可导致肌苷三磷酸焦磷酸化酶缺乏,从而导致 ITP 在红细胞中积累。交替剪接导致多个转录本变体。[RefSeq 提供,2012 年 6 月]

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ITPA 基因产物(8)

mRNA Protein Name
NM_001267623.2 NP_001254552.1 inosine triphosphate pyrophosphatase isoform c
NM_001324236.2 NP_001311165.1 inosine triphosphate pyrophosphatase isoform d
NM_001324237.2 NP_001311166.1 inosine triphosphate pyrophosphatase isoform d
NM_001324238.2 NP_001311167.1 inosine triphosphate pyrophosphatase isoform d
NM_001324240.2 NP_001311169.1 inosine triphosphate pyrophosphatase isoform e
NM_001351739.2 NP_001338668.1 inosine triphosphate pyrophosphatase isoform d
NM_033453.4 NP_258412.1 inosine triphosphate pyrophosphatase isoform a
NM_181493.4 NP_852470.1 inosine triphosphate pyrophosphatase isoform b

ITPA 蛋白结构

Ham1p_like

Ham1p_like: Ham1 family (10 - 188)

  • 0
  • 100
  • 194 a.a.
蛋白主名 其他名称

inosine triphosphate pyrophosphatase

epididymis secretory sperm binding protein

ITPA 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
ITPA Q9BY32 ITPA Homo sapiens Q9BY32
Y2H Array
32296183
种属内
ITPA Q9BY32 ITPA Homo sapiens Q9BY32
Validated Y2H
32296183
种属内
ITPA Q9BY32 ITPA Homo sapiens Q9BY32
Y2H Prey Pooling
32296183
种属内
ITPA Q9BY32 ITPA Homo sapiens Q9BY32
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ITPA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70904 ITPase Protein, Human (His) Q9BY32-1 (A2-A194) ≥95%

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 35

DEE35

Epileptic Encephalopathy, Early Infantile, 35

Eiee35

Developmental And Epileptic Encephalopathy, 35

Early Infantile Epileptic Encephalopathy 35

Itpa-Related Encephalopathy

Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement

Martsolf-Like Syndrome

Inosine Triphosphatase Deficiency

Inosine Triphosphate Pyrophosphohydrolase Deficiency

ITPAD

Tooth Agenesis, Selective, 1

STHAG1

Hypodontia/Oligodontia 1

Hyd1

Tooth Agenesis, Familial

Tooth Agenesis, Selective, 1, With Or Without Orofacial Cleft

Second Premolars And Third Molars, Absence Of

Absence Of Second Premolars And Third Molars

Familial Tooth Agenesis

Hypodontia/Oligodontia With Orofacial Cleft

Selective Tooth Agenesis 1

Selective Tooth Agenesis With Orofacial Cleft

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Thiopurines, Poor Metabolism Of, 1

Thiopurine S-Methyltransferase Deficiency

Tpmt Deficiency

Thiopurine Methyltransferase Deficiency

Thiopurine S Methyltranferase Deficiency

THPM1

Tpmtd

Poor Metabolism Of Thiopurines-1

6-Mercaptopurine Sensitivity

Thiopurines, Poor Metabolism Of

Poor Metabolism Of Thiopurines

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Asymptomatic Neurosyphilis

Neurosyphilis

Neurosyphilis, Asymptomatic

Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Pancytopenia
Tertiary Neurosyphilis

Late Neurosyphilis

Late Syphilis Of Central Nervous System Nos

Specific Language Impairment

Language Impairment, Specific

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Bos taurus ITPA VGNC VGNC:30342
Canis familiaris ITPA VGNC VGNC:42152
Felis catus ITPA VGNC VGNC:109567
Rattus norvegicus ITPA RGD RGD:1589751
Mus musculus ITPA MGD MGI:96622
Macaca mulatta ITPA VGNC VGNC:73801
Others ITPA NCBI