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

HIGD1A - HIG1 hypoxia inducible domain family member 1A Gene

Homo sapiens

Also known as HIG1; RCF1a

Gene ID: 25994 | Gene type: protein coding

About 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.

Summary

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 Products(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

HIGD1A Protein Structure

HIG_1_N

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

  • 0
  • 93 a.a.
Protein Preferred Names Protein Names

HIG1 domain family member 1A, mitochondrial

HIG1 domain family, member 1A

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Mus musculus HIGD1A MGD MGI:1930666
Rattus norvegicus HIGD1A RGD RGD:620215