1. Gene
  2. PRRG1 - proline rich and Gla domain 1 Gene

PRRG1 - proline rich and Gla domain 1 Gene

中文名称:富脯氨酸和 Gla 结构域 1

种属: Homo sapiens

同用名: PRGP1

基因 ID: 5638 | 基因类型: protein coding

关于 PRRG1

Cytogenetic location: Xp21.1 Genomic coordinates (GRCh38): X:37,349,364-37,457,291 (from NCBI)

This gene has 9 transcripts (splice variants), 203 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 6.8), gall bladder (RPKM 4.8) and 23 other tissues.

功能概要

该基因编码一种维生素 K 依赖性、含γ-羧基谷氨酸 (Gla) 的单程跨膜蛋白。该蛋白质在 N 末端包含一个 Gla 结构域,其前面是维生素 K 依赖性伽马羧化酶对特定谷氨酸残基进行翻译后伽马羧化所需的前肽序列。 C 端富含脯氨酸,包含在各种信号和细胞骨架蛋白中发现的 PPXY 和 PXXP 基序。该基因在脊髓中高度表达。已发现该基因的几种可变剪接转录物变体。[RefSeq 提供,2010 年 3 月]

This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

PRRG1 基因产物(5)

mRNA Protein Name
NM_000950.3 NP_000941.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
NM_001142395.2 NP_001135867.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
NM_001173486.2 NP_001166957.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 2 precursor
NM_001173489.2 NP_001166960.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
NM_001173490.2 NP_001166961.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

PRRG1 蛋白结构

Gla

Gla: Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain (25 - 65)

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

transmembrane gamma-carboxyglutamic acid protein 1

proline rich Gla (G-carboxyglutamic acid) 1

PRRG1 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
PRRG1 O14668 UQCRH Homo sapiens P07919 32296183
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
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1

VKCFD1

Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1

Vitamin K-Dependent Coagulation Defect

Multiple Coagulation Factor Deficiency Iii

Mcfd3

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1

Vkcfd

Familial Multiple Coagulation Factor Deficiency Iii

Fmfd Iii

Factors Ii, Vii, Ix, And X, Combined Deficiency Of

Glutamic Acid, Deficient Gamma-Carboxylation Of

Meckel Syndrome, Type 7

Meckel Syndrome 7

Nphp3-Related Meckel-Like Syndrome

MKS7

Goldston Syndrome

Meckel Syndrome Type 7

Meckel-Like Syndrome Type 1

Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome

Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst

Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst

Meckel-Gruber Syndrome, Type 7

Dandy-Walker Cyst With Renal-Hepatic-Pancreatic Dysplasia

Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors

Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X

Vkcfd

Vitamin K Deficiency Bleeding

Vitamin K Deficiency

Deficiency Of Vitamin K

Vitamin K

Vitamin K Deficiency Hemorrhagic Disease

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p

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
Felis catus PRRG1 VGNC VGNC:69084
Canis familiaris PRRG1 VGNC VGNC:45055
Rattus norvegicus PRRG1 RGD RGD:1561320
Bos taurus PRRG1 VGNC VGNC:106878
Mus musculus PRRG1 MGD MGI:1917364