FAHD1 fumarylacetoacetate hydrolase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAHD1provided by HGNC
Official Full Name: fumarylacetoacetate hydrolase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:14169
See related: Ensembl:ENSG00000180185 MIM:616320; AllianceGenome:HGNC:14169
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: YISKL; C16orf36
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]
Expression: Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1827206..1840207)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1842993..1856076)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1877207..1890208)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse.
Title: Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse.
Data indicate that FAH domain-containing protein 1 (FAHD1) is a mitochondrial protein displaying both acylpyruvate hydrolase (ApH) and oxaloacetate decarboxylase (ODx) activity.
Title: Structural basis for the bi-functionality of human oxaloacetate decarboxylase FAHD1.
genetic inactivation of FAHD1 in human cells induces a specific form of cellular senescence.
Title: Oxaloacetate decarboxylase FAHD1 - a new regulator of mitochondrial function and senescence.
The results indicate that FAHD1 is required for mitochondrial function in human cells and provide additional support to the growing evidence that mitochondrial dysfunction can induce cellular senescence by metabolic alterations independent of the DNA damage response pathway.
Title: Depletion of oxaloacetate decarboxylase FAHD1 inhibits mitochondrial electron transport and induces cellular senescence in human endothelial cells.
we recently identified human FAH domain containing protein-1 (FAHD1) as the first eukaryotic oxaloacetate decarboxylase..these data establish a role of fahd-1 to maintain mitochondrial function and consequently physical activity
Title: FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans.
Based on molecular modeling and subsequent biochemical investigations, the study identified FAHD1 as a eukaryotic oxaloacetate decarboxylase enzyme.
Title: Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.
identified mammalian FAHD1 as a novel mitochondrial enzyme with acylpyruvate hydrolase activity.
Title: Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylpyruvate hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylpyruvate hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylpyruvate hydrolase activity	IEA Inferred from Electronic Annotation more info
enables fumarylpyruvate hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxaloacetate decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in pyruvate metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: acylpyruvase FAHD1, mitochondrial

Names: FAH domain-containing protein 1; OAA decarboxylase; YISK like/RJD15; acylpyruvate hydrolase; fumarylacetoacetate hydrolase domain-containing protein 1; oxaloacetate decarboxylase; yisK-like protein

NP_001018114.2

EC 3.7.1.5

EC 4.1.1.112

NP_001135870.2

EC 3.7.1.5

EC 4.1.1.112

NP_112485.2

EC 3.7.1.5

EC 4.1.1.112

XP_047290685.1

EC 3.7.1.5

EC 4.1.1.112

XP_047290686.1

EC 3.7.1.5

EC 4.1.1.112

XP_054170050.1

EC 3.7.1.5

EC 4.1.1.112

XP_054170051.1

EC 3.7.1.5

EC 4.1.1.112

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001018104.3 → NP_001018114.2 acylpyruvase FAHD1, mitochondrial isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC012180, AL031722

Consensus CDS

CCDS32367.2

Related

ENSP00000372112.5, ENST00000382666.6

Conserved Domains (1) summary

COG0179
Location:16 → 209

MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
NM_001142398.2 → NP_001135870.2 acylpyruvase FAHD1, mitochondrial isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC012180, AL031722

Consensus CDS

CCDS45380.2

Related

ENSP00000372114.5, ENST00000382668.8

Conserved Domains (1) summary

COG0179
Location:16 → 209

MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
NM_031208.4 → NP_112485.2 acylpyruvase FAHD1, mitochondrial isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC012180

Consensus CDS

CCDS10448.2

UniProtKB/Swiss-Prot

B1AK40, B1AK41, Q6FIC7, Q6P587, Q96RY1, Q9H0N6

Related

ENSP00000398053.3, ENST00000427358.5

Conserved Domains (1) summary

COG0179
Location:16 → 220

MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]