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Protein

Acylpyruvase FAHD1, mitochondrial

Gene

FAHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Lyase
LigandCalcium, Magnesium, Metal-binding

Enzyme and pathway databases

BRENDAi3.7.1.5 2681
ReactomeiR-HSA-71403 Citric acid cycle (TCA cycle)
SABIO-RKiQ6P587

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:4.1.1.1121 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

EuPathDBiHostDB:ENSG00000180185.11
HGNCiHGNC:14169 FAHD1
MIMi616320 gene
neXtProtiNX_Q6P587

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi81889
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
ProteomicsDBi66992
66993 [Q6P587-2]

2D gel databases

UCD-2DPAGEiQ6P587

PTM databases

iPTMnetiQ6P587
PhosphoSitePlusiQ6P587

Expressioni

Tissue specificityi

Ubiquitous (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000180185 Expressed in 207 organ(s), highest expression level in kidney epithelium
CleanExiHS_FAHD1
GenevisibleiQ6P587 HS

Organism-specific databases

HPAiCAB025530
HPA043226
HPA043534

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi123622, 29 interactors
IntActiQ6P587, 7 interactors
MINTiQ6P587
STRINGi9606.ENSP00000372112

Structurei

Secondary structure

1224
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiRFWEWGR
OrthoDBiEOG091G0I6G
PhylomeDBiQ6P587
TreeFamiTF300911

Family and domain databases

Gene3Di3.90.850.10, 1 hit
InterProiView protein in InterPro
IPR011234 Fumarylacetoacetase-like_C
IPR036663 Fumarylacetoacetase_C_sf
PfamiView protein in Pfam
PF01557 FAA_hydrolase, 1 hit
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 dbSNP:rs3743853Ensembl.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
AC012180 Genomic DNA No translation available.
AL031722 Genomic DNA No translation available.
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

Similar proteinsi

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
AC012180 Genomic DNA No translation available.
AL031722 Genomic DNA No translation available.
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, 29 interactors
IntActiQ6P587, 7 interactors
MINTiQ6P587
STRINGi9606.ENSP00000372112

PTM databases

iPTMnetiQ6P587
PhosphoSitePlusiQ6P587

Polymorphism and mutation databases

BioMutaiFAHD1
DMDMi68566321

2D gel databases

UCD-2DPAGEiQ6P587

Proteomic databases

EPDiQ6P587
MaxQBiQ6P587
PaxDbiQ6P587
PeptideAtlasiQ6P587
PRIDEiQ6P587
ProteomicsDBi66992
66993 [Q6P587-2]

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
DisGeNETi81889
EuPathDBiHostDB:ENSG00000180185.11
GeneCardsiFAHD1
HGNCiHGNC:14169 FAHD1
HPAiCAB025530
HPA043226
HPA043534
MIMi616320 gene
neXtProtiNX_Q6P587
OpenTargetsiENSG00000180185
PharmGKBiPA25551
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BRENDAi3.7.1.5 2681
ReactomeiR-HSA-71403 Citric acid cycle (TCA cycle)
SABIO-RKiQ6P587

Miscellaneous databases

ChiTaRSiFAHD1 human
EvolutionaryTraceiQ6P587
GeneWikiiFAHD1
GenomeRNAii81889
PROiPR:Q6P587
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180185 Expressed in 207 organ(s), highest expression level in kidney epithelium
CleanExiHS_FAHD1
GenevisibleiQ6P587 HS

Family and domain databases

Gene3Di3.90.850.10, 1 hit
InterProiView protein in InterPro
IPR011234 Fumarylacetoacetase-like_C
IPR036663 Fumarylacetoacetase_C_sf
PfamiView protein in Pfam
PF01557 FAA_hydrolase, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: May 10, 2005
Last modified: November 7, 2018
This is version 135 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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