1. Gene
  2. HIGD1A - HIG1 hypoxia inducible domain family member 1A Gene

HIGD1A - HIG1 hypoxia inducible domain family member 1A Gene

中文名称:HIG1 缺氧诱导域家族成员 1A

种属: Homo sapiens

同用名: HIG1; RCF1a

基因 ID: 25994 | 基因类型: protein coding

关于 HIGD1A

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:42,782,908-42,804,490 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and 4 paralogues. Ubiquitous expression in colon (RPKM 73.6), heart (RPKM 47.7) and 24 other tissues.

功能概要

在细胞凋亡过程的负调节上游或负调节中起作用。位于线粒体和核质中。部分含蛋白质复合物。 [由基因组资源联盟提供,2022 年 4 月]

Acts upstream of or within negative regulation of apoptotic process. Located in mitochondrion and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

HIGD1A 基因产物(3)

mRNA Protein Name
NM_001099668.2 NP_001093138.1 HIG1 domain family member 1A, mitochondrial isoform a
NM_001099669.2 NP_001093139.1 HIG1 domain family member 1A, mitochondrial isoform b
NM_014056.4 NP_054775.2 HIG1 domain family member 1A, mitochondrial isoform b
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
21856340 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

HIGD1A 蛋白结构

HIG_1_N

HIG_1_N: Hypoxia induced protein conserved region (24 - 78)

  • 0
  • 93 a.a.
蛋白主名 其他名称

HIG1 domain family member 1A, mitochondrial

HIG1 domain family, member 1A

关联疾病

疾病名称 别名
Cecum Adenocarcinoma

Cecal Adenocarcinoma

Adenocarcinoma Of Cecum

Colon Mucinous Adenocarcinoma

Colonic Mucinous Adenocarcinoma

Mucinous Adenocarcinoma Of The Colon

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency

MTPD

Trifunctional Protein Deficiency

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Tfpd

Familial Hypertrophic Cardiomyopathy

Cardiomyopathy Familial Hypertrophic

Familial Hcm

Heritable Hypertrophic Cardiomyopathy

Mtp Deficiency

Tpa Deficiency

Trifunctional Protein Deficiency, Type 2

Abetalipoproteinemia

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 HIGD1A MGD MGI:1930666
Rattus norvegicus HIGD1A RGD RGD:620215