1. Gene
  2. PRELID1 - PRELI domain containing 1 Gene

PRELID1 - PRELI domain containing 1 Gene

中文名称:含 PRELI 域 1

种属: Homo sapiens

同用名: PX19; PRELI; SBBI12; CGI-106

基因 ID: 27166 | 基因类型: protein coding

关于 PRELID1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,303,799-177,306,949 (from NCBI)

This gene has 8 transcripts (splice variants), 339 orthologues and 3 paralogues. Ubiquitous expression in colon (RPKM 60.0), small intestine (RPKM 55.2) and 25 other tissues.

功能概要

该基因编码晚期胚胎发生丰富的含基序蛋白家族的成员。编码的蛋白质定位于线粒体,可通过调节细胞死亡和分化起到细胞保护剂的作用。可变剪接导致编码不同异构体的多个转录变体。已经确定了几个相关的假基因。[RefSeq 提供,2012 年 11 月]

This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

PRELID1 基因产物(2)

mRNA Protein Name
NM_001271828.2 NP_001258757.1 PRELI domain-containing protein 1, mitochondrial isoform 2 precursor
NM_013237.4 NP_037369.1 PRELI domain-containing protein 1, 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
contributes to phosphatidic acid transfer activity IMP
IMP: 通过突变表型推断
23931759 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21364629 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
21364629 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23931759 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

PRELID1 蛋白结构

PRELI

PRELI: PRELI-like family (16 - 171)

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

PRELI domain-containing protein 1, mitochondrial

25 kDa protein of relevant evolutionary and lymphoid interest

关联疾病

疾病名称 别名
Chronic Closed-Angle Glaucoma

Anatomical Narrow Angle Glaucoma

Chronic Angle-Closure Glaucoma

Chronic Narrow Angle Glaucoma

Secondary Angle-Closure Glaucoma - Synechial

Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28

SCA28

Ataxia, Spinocerebellar, Type 28

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

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 PRELID1 MGD MGI:1913744
Rattus norvegicus PRELID1 RGD RGD:1308082
Macaca mulatta PRELID1 VGNC VGNC:84481
Canis familiaris PRELID1 VGNC VGNC:44955
Felis catus PRELID1 VGNC VGNC:97567
Bos taurus PRELID1 VGNC VGNC:33306