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

Gene ID: 81889, updated on 8-Nov-2020

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
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
Expression
Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues See more
Orthologs

Genomic context

See FAHD1 in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1827224..1840207)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1877225..1890208)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene insulin like growth factor binding protein acid labile subunit Neighboring gene hydroxyacylglutathione hydrolase Neighboring gene meiosis specific with OB-fold Neighboring gene long intergenic non-protein coding RNA 254 Neighboring gene long intergenic non-protein coding RNA 2124

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC74876, DKFZp566J2046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylpyruvate hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylpyruvate hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
acylpyruvate hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
fumarylpyruvate hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxaloacetate decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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_001018114.1
NP_001135870.1
NP_112485.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001018104.2NP_001018114.1  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, AL136720, BC063017
    Consensus CDS
    CCDS32367.1
    UniProtKB/Swiss-Prot
    Q6P587
    Related
    ENSP00000372112.4, ENST00000382666.5
    Conserved Domains (2) summary
    COG0179
    Location:19212
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
    pfam01557
    Location:21212
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  2. NM_001142398.1NP_001135870.1  acylpyruvase FAHD1, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001135870.1

    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)
    BC063017
    Consensus CDS
    CCDS45380.1
    UniProtKB/Swiss-Prot
    Q6P587
    Related
    ENSP00000372114.4, ENST00000382668.7
    Conserved Domains (1) summary
    COG0179
    Location:19212
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
  3. NM_031208.3NP_112485.1  acylpyruvase FAHD1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_112485.1

    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)
    AL136720
    Consensus CDS
    CCDS10448.1
    UniProtKB/Swiss-Prot
    Q6P587
    Related
    ENSP00000398053.2, ENST00000427358.3
    Conserved Domains (1) summary
    COG0179
    Location:19223
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    1827224..1840207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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