HIGD1A - HIG1 hypoxia inducible domain family member 1A Gene

Also Known as HIG1; RCF1a

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25994

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
Biological Process GO Annotation Evidence References Source
acts upstream of or within negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
21856340 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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
Others HIGD1A NCBI