2. Gene
  3. PCMTD1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 Gene

PCMTD1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 Gene

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

中文名称：含蛋白质-L-异天冬氨酸 (D-天冬氨酸) O-甲基转移酶结构域 1

种属: Homo sapiens

基因 ID: 115294 | 基因类型: protein coding

关于 PCMTD1

Cytogenetic location: 8q11.23 Genomic coordinates (GRCh38): 8:51,817,575-51,899,186 (from NCBI)

This gene has 8 transcripts (splice variants), 213 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 31.9), fat (RPKM 21.9) and 25 other tissues.

功能概要

预测可启用蛋白质-L-异天冬氨酸 (D-天冬氨酸) O-甲基转移酶活性。预测参与蛋白质甲基化。预测位于膜中。预计在细胞质中有活性。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be involved in protein methylation. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

PCMTD1 基因产物(4)

mRNA Protein Name
NM_001286782.1 NP_001273711.1 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 2
NM_001286783.2 NP_001273712.1 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 3
NM_001363193.1 NP_001350122.1 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 4
NM_052937.4 NP_443169.2 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 1
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
NOT enables S-adenosylmethionine-dependent methyltransferase activity IDA
IDA: 通过直接分析推断
35486881 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
35486881 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
35486881 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul5-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
35486881 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

PCMTD1 蛋白结构

PCMT

PCMT: Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT) (10 - 221)

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

protein-L-isoaspartate O-methyltransferase domain-containing protein 1

PCMTD1 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
PCMTD1 Q96MG8 PRKN Homo sapiens O60260-5
Validated Y2H
32814053
种属内
PCMTD1 Q96MG8 PRKN Homo sapiens O60260-5
Y2H Pooling
32814053
种属内
PCMTD1 Q96MG8 PRKN Homo sapiens O60260-5
Y2H Array
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
Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma
Marshall Syndrome

MRSHS

Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

Pfapa Syndrome

Pfapa

Marshall Syndrome With Periodic Fever

Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1
Nanophthalmos

Nanophthalmia
Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary
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-RS10158 PCMTD1 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 PCMTD1 VGNC VGNC:53547
Macaca mulatta PCMTD1 VGNC VGNC:84099
Mus musculus PCMTD1 MGD MGI:2441773
Rattus norvegicus PCMTD1 RGD RGD:1586096
Bos taurus PCMTD1 VGNC VGNC:53871
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