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Protein

Acylpyruvase FAHD1, mitochondrial

Gene

FAHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro (PubMed:15551868, PubMed:21878618). Also has oxaloacetate decarboxylase activity (PubMed:25575590).3 Publications

Catalytic activityi

A 3-acylpyruvate + H2O = a carboxylate + pyruvate.1 Publication
Oxaloacetate = pyruvate + CO2.1 Publication

Cofactori

Mg2+2 Publications, Mn2+2 Publications

Kineticsi

  1. KM=4.6 µM for acetylpyruvate1 Publication
  2. KM=32 µM for oxaloacetate1 Publication
  1. Vmax=0.135 µmol/min/mg enzyme toward acetylpyruvate1 Publication
  2. Vmax=0.21 µmol/min/mg enzyme with oxaloacetate as substrate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi71Divalent metal cation1 Publication1
Metal bindingi73Divalent metal cation1 Publication1
Metal bindingi102Divalent metal cation1 Publication1

GO - Molecular functioni

  • acetylpyruvate hydrolase activity Source: UniProtKB
  • acylpyruvate hydrolase activity Source: UniProtKB-EC
  • fumarylpyruvate hydrolase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • oxaloacetate decarboxylase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Lyase

Keywords - Ligandi

Calcium, Magnesium, Metal-binding

Enzyme and pathway databases

BRENDAi3.7.1.5. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Acylpyruvase FAHD1, mitochondrial (EC:3.7.1.51 Publication)
Alternative name(s):
Fumarylacetoacetate hydrolase domain-containing protein 1
Short name:
FAH domain-containing protein 1
Oxaloacetate decarboxylase (EC:4.1.1.31 Publication)
Short name:
OAA decarboxylase
YisK-like protein
Gene namesi
Name:FAHD1
Synonyms:C16orf36, YISKL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:14169. FAHD1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • mitochondrial inner membrane Source: Ensembl
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi30H → A: Impaired oxaloacetate decarboxylase activity. 1 Publication1
Mutagenesisi33E → A: Impaired oxaloacetate decarboxylase activity. 1 Publication1
Mutagenesisi102D → A: Loss of catalytic activity; when associated with A-106. 2 Publications1
Mutagenesisi106R → A: Loss of catalytic activity; when associated with A-102. 2 Publications1

Organism-specific databases

OpenTargetsiENSG00000180185.
PharmGKBiPA25551.

Polymorphism and mutation databases

BioMutaiFAHD1.
DMDMi68566321.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 27MitochondrionSequence analysisAdd BLAST27
ChainiPRO_000015682928 – 224Acylpyruvase FAHD1, mitochondrialAdd BLAST197

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei40PhosphoserineBy similarity1
Modified residuei113N6-acetyllysineBy similarity1
Modified residuei115N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6P587.
MaxQBiQ6P587.
PaxDbiQ6P587.
PeptideAtlasiQ6P587.
PRIDEiQ6P587.

2D gel databases

UCD-2DPAGEQ6P587.

PTM databases

iPTMnetiQ6P587.
PhosphoSitePlusiQ6P587.

Expressioni

Tissue specificityi

Ubiquitous (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000180185.
CleanExiHS_FAHD1.
GenevisibleiQ6P587. HS.

Organism-specific databases

HPAiCAB025530.
HPA043534.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi123622. 28 interactors.
IntActiQ6P587. 4 interactors.
MINTiMINT-3065811.
STRINGi9606.ENSP00000372112.

Structurei

Secondary structure

1224
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi10 – 12Combined sources3
Helixi13 – 16Combined sources4
Beta strandi19 – 24Combined sources6
Beta strandi44 – 48Combined sources5
Helixi49 – 51Combined sources3
Beta strandi52 – 54Combined sources3
Beta strandi68 – 70Combined sources3
Beta strandi72 – 80Combined sources9
Turni87 – 89Combined sources3
Helixi90 – 92Combined sources3
Beta strandi93 – 101Combined sources9
Helixi106 – 115Combined sources10
Helixi120 – 123Combined sources4
Beta strandi129 – 131Combined sources3
Beta strandi147 – 152Combined sources6
Beta strandi155 – 161Combined sources7
Helixi162 – 164Combined sources3
Beta strandi165 – 167Combined sources3
Helixi169 – 177Combined sources9
Beta strandi187 – 189Combined sources3
Beta strandi197 – 199Combined sources3
Beta strandi204 – 209Combined sources6
Turni210 – 212Combined sources3
Beta strandi213 – 220Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SAWX-ray2.20A/B2-224[»]
ProteinModelPortaliQ6P587.
SMRiQ6P587.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6P587.

Family & Domainsi

Sequence similaritiesi

Belongs to the FAH family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1535. Eukaryota.
COG0179. LUCA.
GeneTreeiENSGT00530000063832.
HOGENOMiHOG000063753.
HOVERGENiHBG057495.
InParanoidiQ6P587.
KOiK01557.
OMAiANGERMP.
OrthoDBiEOG091G0I6G.
PhylomeDBiQ6P587.
TreeFamiTF300911.

Family and domain databases

Gene3Di3.90.850.10. 1 hit.
InterProiIPR011234. Fumarylacetoacetase_C-rel.
[Graphical view]
PfamiPF01557. FAA_hydrolase. 1 hit.
[Graphical view]
SUPFAMiSSF56529. SSF56529. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P587-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGIMAASRPL SRFWEWGKNI VCVGRNYADH VREMRSAVLS EPVLFLKPST
60 70 80 90 100
AYAPEGSPIL MPAYTRNLHH ELELGVVMGK RCRAVPEAAA MDYVGGYALC
110 120 130 140 150
LDMTARDVQD ECKKKGLPWT LAKSFTASCP VSAFVPKEKI PDPHKLKLWL
160 170 180 190 200
KVNGELRQEG ETSSMIFSIP YIISYVSKII TLEEGDIILT GTPKGVGPVK
210 220
ENDEIEAGIH GLVSMTFKVE KPEY
Length:224
Mass (Da):24,843
Last modified:May 10, 2005 - v2
Checksum:iA005E4ECD613C72E
GO
Isoform 2 (identifier: Q6P587-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-224: VSMTFKVEKPEY → PKVSSATLPVRLQE

Note: No experimental confirmation available.
Show »
Length:226
Mass (Da):24,910
Checksum:i899A2BAC58271420
GO
Isoform 3 (identifier: Q6P587-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-224: VSMTFKVEKPEY → RQGLTLSPKLECSSAITAHCSLELPGSSNPPSASRF

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:248
Mass (Da):27,128
Checksum:i80A1D807CBEC10B2
GO

Sequence cautioni

The sequence AAK61295 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti177S → P in CAG38530 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049014110D → N.Corresponds to variant rs3743853dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013741213 – 224VSMTF…EKPEY → PKVSSATLPVRLQE in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_046259213 – 224VSMTF…EKPEY → RQGLTLSPKLECSSAITAHC SLELPGSSNPPSASRF in isoform 3. CuratedAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AE006639 Genomic DNA. Translation: AAK61295.1. Different initiation.
AL136720 mRNA. Translation: CAB66654.1.
AK094199 mRNA. Translation: BAC04308.1.
CR533499 mRNA. Translation: CAG38530.1.
AL031722, AC012180 Genomic DNA. Translation: CAM26476.1.
BC063017 mRNA. Translation: AAH63017.1.
CCDSiCCDS10448.1. [Q6P587-1]
CCDS32367.1. [Q6P587-3]
CCDS45380.1. [Q6P587-2]
RefSeqiNP_001018114.1. NM_001018104.2. [Q6P587-3]
NP_001135870.1. NM_001142398.1. [Q6P587-2]
NP_112485.1. NM_031208.3. [Q6P587-1]
UniGeneiHs.513265.

Genome annotation databases

EnsembliENST00000382666; ENSP00000372112; ENSG00000180185. [Q6P587-3]
ENST00000382668; ENSP00000372114; ENSG00000180185. [Q6P587-2]
ENST00000427358; ENSP00000398053; ENSG00000180185. [Q6P587-1]
ENST00000615972; ENSP00000482534; ENSG00000180185. [Q6P587-3]
GeneIDi81889.
KEGGihsa:81889.
UCSCiuc002cnc.2. human. [Q6P587-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AE006639 Genomic DNA. Translation: AAK61295.1. Different initiation.
AL136720 mRNA. Translation: CAB66654.1.
AK094199 mRNA. Translation: BAC04308.1.
CR533499 mRNA. Translation: CAG38530.1.
AL031722, AC012180 Genomic DNA. Translation: CAM26476.1.
BC063017 mRNA. Translation: AAH63017.1.
CCDSiCCDS10448.1. [Q6P587-1]
CCDS32367.1. [Q6P587-3]
CCDS45380.1. [Q6P587-2]
RefSeqiNP_001018114.1. NM_001018104.2. [Q6P587-3]
NP_001135870.1. NM_001142398.1. [Q6P587-2]
NP_112485.1. NM_031208.3. [Q6P587-1]
UniGeneiHs.513265.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SAWX-ray2.20A/B2-224[»]
ProteinModelPortaliQ6P587.
SMRiQ6P587.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123622. 28 interactors.
IntActiQ6P587. 4 interactors.
MINTiMINT-3065811.
STRINGi9606.ENSP00000372112.

PTM databases

iPTMnetiQ6P587.
PhosphoSitePlusiQ6P587.

Polymorphism and mutation databases

BioMutaiFAHD1.
DMDMi68566321.

2D gel databases

UCD-2DPAGEQ6P587.

Proteomic databases

EPDiQ6P587.
MaxQBiQ6P587.
PaxDbiQ6P587.
PeptideAtlasiQ6P587.
PRIDEiQ6P587.

Protocols and materials databases

DNASUi81889.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382666; ENSP00000372112; ENSG00000180185. [Q6P587-3]
ENST00000382668; ENSP00000372114; ENSG00000180185. [Q6P587-2]
ENST00000427358; ENSP00000398053; ENSG00000180185. [Q6P587-1]
ENST00000615972; ENSP00000482534; ENSG00000180185. [Q6P587-3]
GeneIDi81889.
KEGGihsa:81889.
UCSCiuc002cnc.2. human. [Q6P587-1]

Organism-specific databases

CTDi81889.
GeneCardsiFAHD1.
HGNCiHGNC:14169. FAHD1.
HPAiCAB025530.
HPA043534.
MIMi616320. gene.
neXtProtiNX_Q6P587.
OpenTargetsiENSG00000180185.
PharmGKBiPA25551.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1535. Eukaryota.
COG0179. LUCA.
GeneTreeiENSGT00530000063832.
HOGENOMiHOG000063753.
HOVERGENiHBG057495.
InParanoidiQ6P587.
KOiK01557.
OMAiANGERMP.
OrthoDBiEOG091G0I6G.
PhylomeDBiQ6P587.
TreeFamiTF300911.

Enzyme and pathway databases

BRENDAi3.7.1.5. 2681.

Miscellaneous databases

ChiTaRSiFAHD1. human.
EvolutionaryTraceiQ6P587.
GeneWikiiFAHD1.
GenomeRNAii81889.
PROiQ6P587.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180185.
CleanExiHS_FAHD1.
GenevisibleiQ6P587. HS.

Family and domain databases

Gene3Di3.90.850.10. 1 hit.
InterProiIPR011234. Fumarylacetoacetase_C-rel.
[Graphical view]
PfamiPF01557. FAA_hydrolase. 1 hit.
[Graphical view]
SUPFAMiSSF56529. SSF56529. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFAHD1_HUMAN
AccessioniPrimary (citable) accession number: Q6P587
Secondary accession number(s): B1AK40
, B1AK41, Q6FIC7, Q96RY1, Q9H0N6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: May 10, 2005
Last modified: November 2, 2016
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.