FAHD1 - fumarylacetoacetate hydrolase domain containing 1 Gene

Also Known as YISKL; C16orf36

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 81889

About FAHD1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,827,206-1,840,207 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and 3 paralogues. Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues.

Summary

Enables acetylpyruvate hydrolase activity; fumarylpyruvate hydrolase activity; and oxaloacetate decarboxylase activity. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

FAHD1 Products (3)

mRNA Protein Name
NM_001018104.3 NP_001018114.2 acylpyruvase FAHD1, mitochondrial isoform 1
NM_001142398.2 NP_001135870.2 acylpyruvase FAHD1, mitochondrial isoform 3
NM_031208.4 NP_112485.2 acylpyruvase FAHD1, mitochondrial isoform 2

FAHD1 Protein Structure

FAA_hydrolase

FAA_hydrolase: Fumarylacetoacetate (FAA) hydrolase family (19 - 219)

  • 0
  • 100
  • 200
  • 224 a.a.
Protein Preferred Names Protein Names

acylpyruvase FAHD1, mitochondrial

  • FAH domain-containing protein 1

Related Diseases

Diseases Alias
Spermatogenic Failure

  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism
Cerebral Lymphoma

  • Primary Cerebral Lymphoma

  • Brain Primary Lymphoma

  • Primary Lymphoma Of Cerebrum
Hyperoxaluria, Primary, Type Iii

  • Primary Hyperoxaluria Type 3

  • HP3

  • Ph Iii

  • Primary Hyperoxaluria Type Iii

  • Hyperoxaluria Primary 3

  • Hyperoxaluria Non-Hp1/Non-Hp2

  • Hyperoxaluria Non-Ph I/Ph Ii Form

  • Hyperoxaluria Primary Type Iii
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04673 FAHD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus FAHD1 VGNC VGNC:28708
Mus musculus FAHD1 MGD MGI:1915886
Macaca mulatta FAHD1 VGNC VGNC:99507
Felis catus FAHD1 VGNC VGNC:80571
Rattus norvegicus FAHD1 RGD RGD:1304560
Others FAHD1 NCBI