1. Gene
  2. BOLA1 - bolA family member 1 Gene

BOLA1 - bolA family member 1 Gene

中文名称:bolA 家族成员 1

种属: Homo sapiens

同用名: CGI-143

基因 ID: 51027 | 基因类型: protein coding

关于 BOLA1

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:149,899,568-149,900,795 (from NCBI)

This gene has 4 transcripts (splice variants), 170 orthologues and 3 paralogues. Ubiquitous expression in kidney (RPKM 5.6), fat (RPKM 5.6) and 25 other tissues.

功能概要

位于线粒体中。 [由基因组资源联盟提供,2022 年 4 月]

Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

BOLA1 基因产物(3)

mRNA Protein Name
NM_001321025.2 NP_001307954.1 bolA-like protein 1 precursor
NM_001321026.2 NP_001307955.1 bolA-like protein 1 precursor
NM_016074.5 NP_057158.1 bolA-like protein 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
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
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of iron-sulfur cluster assembly complex IPI
IPI: 通过物理相互作用推断
27532772 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
22746225 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

BOLA1 蛋白结构

BolA

BolA: BolA-like protein (39 - 114)

  • 0
  • 100
  • 137 a.a.
蛋白主名 其他名称

bolA-like protein 1

bolA homolog 1

重组 BOLA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75596 BOLA1 Protein, Human (His) Q9Y3E2 (M1-P137) ≥95%

关联疾病

疾病名称 别名
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2

MMDS2

Bola3 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 2

Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunction Syndrome

Mmds

Multiple Mitochondrial Dysfunction Syndrome

Mitochondrial Dysfunctions, Multiple, Syndrome

Multiple Mitochondrial Dysfunctions Syndrome 1

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

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 BOLA1 MGD MGI:1916418
Felis catus BOLA1 VGNC VGNC:60147
Rattus norvegicus BOLA1 RGD RGD:1310586
Bos taurus BOLA1 VGNC VGNC:50092
Macaca mulatta BOLA1 VGNC VGNC:70373
Others BOLA1 NCBI