2. Gene
  3. OXA1L - OXA1L mitochondrial inner membrane protein Gene

OXA1L - OXA1L mitochondrial inner membrane protein Gene

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

中文名称：OXA1L 线粒体内膜蛋白

种属: Homo sapiens

同用名: OXA1; OXA1L1

基因 ID: 5018 | 基因类型: protein coding

关于 OXA1L

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,766,688-22,773,042 (from NCBI)

This gene has 12 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 54.4), duodenum (RPKM 53.5) and 25 other tissues.

功能概要

该基因编码一种进化上保守的蛋白质，定位于线粒体内膜。编码的蛋白质对于细胞色素 c 氧化酶亚基 2 的 N 末端尾巴的易位至关重要，并且参与线粒体呼吸链的细胞色素 c 氧化酶和 ATPase 复合物的组装。[RefSeq 提供，2016 年 7 月]

This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]

OXA1L 基因产物(1)

mRNA Protein Name
NM_005015.5 NP_005006.4 mitochondrial inner membrane protein OXA1L
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
enables membrane insertase activity IDA
IDA: 通过直接分析推断
33602856 GOA
enables mitochondrial ribosome binding IDA
IDA: 通过直接分析推断
20739282 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20601428 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
20601428 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in aerobic respiration IMP
IMP: 通过突变表型推断
7991568 GOA
involved in mitochondrial protein quality control IDA
IDA: 通过直接分析推断
38199007 GOA
involved in mitochondrial proton-transporting ATP synthase complex assembly IMP
IMP: 通过突变表型推断
17936786 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
17936786 GOA
involved in negative regulation of ATP-dependent activity IMP
IMP: 通过突变表型推断
17936786 GOA
involved in negative regulation of oxidoreductase activity IMP
IMP: 通过突变表型推断
17936786 GOA
involved in protein insertion into mitochondrial inner membrane from matrix IDA
IDA: 通过直接分析推断
33602856 GOA
involved in protein tetramerization IDA
IDA: 通过直接分析推断
20601428 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
33602856 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
17936786 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
17936786 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

OXA1L 蛋白结构

60KD_IMP

60KD_IMP: 60Kd inner membrane protein (200 - 394)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 495 a.a.
蛋白主名 其他名称

mitochondrial inner membrane protein OXA1L

OXA1-like protein

关联疾病

疾病名称 别名
Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder
Hyperthyroxinemia
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
Central Corneal Ulcer
Absolute Glaucoma

Blind Hypertensive Eye

Glaucoma Absolute
Parametritis

Pelvic Cellulitis
Urinary Tract Infection

Urinary Tract Infections

Uti

Urinary Tract Infection Nos

Uti - [Urinary Tract Infection]

Uti Nos - [Urinary Tract Infection Nos]

Urosepsis Nos

E Coli Uti

E Coli Urinary Tract Infection

Escherichia Coli Uti
Analbuminemia

ANALBA

Congenital Analbuminemia

Hypoalbuminemia
Diabetes Mellitus

Diabetes
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
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-RS09885 OXA1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus OXA1L MGD MGI:1916339
Macaca mulatta OXA1L VGNC VGNC:75729
Rattus norvegicus OXA1L RGD RGD:1585024
Canis familiaris OXA1L VGNC VGNC:44199
Bos taurus OXA1L VGNC VGNC:32507
Felis catus OXA1L VGNC VGNC:80889
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