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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAHD1 Gene

protein-coding   GIFtS: 50
GCID: GC16P001876

fumarylacetoacetate hydrolase domain containing 1

(Previous name: chromosome 16 open reading frame 36 )
(Previous symbol: C16orf36)
 Explore 2 diseases affiliated with
FAHD1 via our new
 Human Malady Compendium 
Biological research products
for FAHD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Fumarylacetoacetate Hydrolase Domain Containing 11 2     DKFZP566J20461
C16orf361 2 3     Chromosome 16 Open Reading Frame 361
Fumarylacetoacetate Hydrolase Domain-Containing Protein 12 3     Acylpyruvase FAHD1, Mitochondrial2
YisK-Like Protein2 3     YISK Like/RJD152
YISKL2 3     EC 3.7.1.53

External Ids:    HGNC: 141691   Entrez Gene: 818892   Ensembl: ENSG000001801857   UniProtKB: Q6P5873   

Export aliases for FAHD1 gene to outside databases

Previous GC identifer: GC16P001818


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587
Function: Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro

Gene Wiki entry for FAHD1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAHD1 gene promoter:
         SRF   AML1a   p53   SRF (504 AA)   XBP-1   YY1   HEN1   HFH-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAHD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FAHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

FAHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAHD1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001876:  view genomic region     (about GC identifiers)

Start:
1,876,968 bp from pter      End:
1,890,208 bp from pter
Size:
13,241 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587 (See protein sequence)
Recommended Name: Acylpyruvase FAHD1, mitochondrial precursor  
Size: 224 amino acids; 24843 Da
Cofactor: Magnesium or manganese (Probable)
Subunit: Homodimer
Subcellular location: Mitochondrion. Cytoplasm, cytosol
Sequence caution: Sequence=AAK61295.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for FAHD1:
1SAW (3D)    
Secondary accessions: B1AK40 B1AK41 Q6FIC7 Q96RY1 Q9H0N6
Alternative splicing: 3 isoforms:  Q6P587-1   Q6P587-2   Q6P587-3   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for FAHD1: NX_Q6P587

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6P587

  • FAHD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001018114.1  NP_001135870.1  NP_112485.1  

    ENSEMBL proteins: 
     ENSP00000372114   ENSP00000372112   ENSP00000398053  

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    Uscn Proteins for FAHD1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane ----
    GO:0005829cytosol IDA--


    FAHD1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FAHD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002529 Fumarylacetoacetase_C
     IPR011234 Fumarylacetoacetase_C-rel

    Graphical View of Domain Structure for InterPro Entry Q6P587

    ProtoNet protein and cluster: Q6P587

    1 Blocks protein family: IPB002529 Fumarylacetoacetate (FAA) hydrolase

    UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587
    Similarity: Belongs to the FAH family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587
    Function: Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro
    Catalytic activity: A 3-acylpyruvate + H(2)O = a carboxylate + pyruvate
    Biophysicochemical properties: Kinetic parameters: KM=4.6 uM for acetylpyruvate; Vmax=0.135 umol/min/mg enzyme toward
    acetylpyruvate;

    Enzyme Number (IUBMB): EC 3.7.1.51

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity ----
    GO:0018773acetylpyruvate hydrolase activity IDA--
    GO:0034545fumarylpyruvate hydrolase activity IDA--
    GO:0046872metal ion binding IEA--
    GO:0047621acylpyruvate hydrolase activity IEA--


    FAHD1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAHD1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/28 Interacting proteins for FAHD1 (Q6P5871, 3 ENSP000003721124) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC4Q9NPD31, 3, ENSP000003154764EBI-597013,EBI-371823 I2D: score=2 STRING: ENSP00000315476
    PFDN5Q994713I2D: score=4 
    MMEP084733I2D: score=2 
    ACSF3Q4G1763I2D: score=1 
    BRIX1Q8TDN63I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FAHD1

    2 HMDB Compounds for FAHD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Search CenterWatch for drugs/clinical trials and news about FAHD1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAHD1 gene (3 alternative transcripts): 
    NM_001018104.2  NM_001142398.1  NM_031208.3  

    Unigene Cluster for FAHD1:

    Fumarylacetoacetate hydrolase domain containing 1
    Hs.513265  [show with all ESTs]
    Unigene Representative Sequence: NM_001018104
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382668(uc010brz.3) ENST00000382666(uc002cnd.3) ENST00000427358(uc002cnc.1)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AF293367.1 AK094199.1 AL136720.1 BC020615.1 BC063017.1 CR533499.1 

    9 DOTS entries:

    DT.213917  DT.100791379  DT.95139614  DT.40267786  DT.100830915  DT.91642199  DT.86839413  DT.100783832 
    DT.100783833 

    24/180 AceView cDNA sequences (see all 180):

    CR600899 BE407268 AI866956 AK094199 BE797513 CB177251 BP377199 CB068355 
    BM553159 AV708486 AW162570 AA450373 CF264736 BP375902 BI752165 BM781939 
    BU192949 CF541351 AW161216 CR614808 BI467211 AI081095 BM464264 BU501431 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FAHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTTTCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FAHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAHD1

    SOURCE GeneReport for Unigene cluster: Hs.513265

    UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587
    Tissue specificity: Ubiquitous (at protein level)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for FAHD1 gene from 10/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fahd11 , 5 fumarylacetoacetate hydrolase domain containing 11, 5 83.86(n)1
    87.78(a)1
      17 (12.53 cM)5
    686361  NM_023480.21  NP_075969.11 
     248488965 
    chicken
    (Gallus gallus)
    Aves FAHD11 fumarylacetoacetate hydrolase domain containing 1 74.38(n)
    75(a)
      416538  XM_003642119.1  XP_003642167.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAHD16
    --
    70(a)
    1 ↔ 1
    GL343263.1(1367412-1368092)
    zebrafish
    (Danio rerio)
    Actinopterygii fahd11 fumarylacetoacetate hydrolase domain containing 1 66.82(n)
    67.13(a)
      553762  NM_001020728.1  NP_001018564.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57931 CG5793 56.03(n)
    49.52(a)
      42505  NM_142687.2  NP_650944.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK688.31 Protein ZK688.3 50.08(n)
    46.92(a)
      176109  NM_066314.4  NP_498715.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FMP411 Fmp41p 51.67(n)
    44.5(a)
      855553   NP_014231.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G159401 fumarylacetoacetate hydrolase-like protein 55.5(n)
    53.49(a)
      827276  NM_117686.4  NP_193329.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g08290001 hypothetical protein 58.75(n)
    55.45(a)
      4334655  NM_001058314.1  NP_001051779.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ycgM6
    predicted isomerase/hydrolase
    42(a)
    1 ↔ 1
    Chromosome(1227302-1227961)


    ENSEMBL Gene Tree for FAHD1 (if available)
    TreeFam Gene Tree for FAHD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAHD1 gene
    FAHD2B2  FAHD2A2  
    2 SIMAP similar genes for FAHD1 using alignment to 1 protein entry:     FAHD1_HUMAN:
    FAHD2A    FAHD2B

    FAHD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FAHD1
    PGOHUM00000246832


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/290 NCBI SNPs in FAHD1 are shown (see all 290    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs620383921,2
    C,F,--1879293(+) AACACA/GGTACT 3 -- ds5001 int15Minor allele frequency- G:0.19NA WA EA 362
    rs727628551,2
    C,--1879422(+) AGGCTG/ACGAAG 2 -- int14Minor allele frequency- A:0.19WA NA EA 360
    rs71852991,2
    C,A,--1879423(+) GGCTGC/TGAAGG 2 -- int16Minor allele frequency- T:0.10NA WA EA 364
    rs47866731,2
    --1879445(+) CACTCA/CGCTTA 2 -- int10--------
    rs360405101,2
    C,--1879494(+) AGAACG/CTGAAG 2 -- int15Minor allele frequency- C:0.18NA WA EA 362
    rs755697131,2
    C,--1879498(+) CGTGAA/CGTTTT 2 -- int14Minor allele frequency- C:0.19NA WA EA 360
    rs1473099521,2
    --1879508(+) TGACCA/TCAATG 2 -- int10--------
    rs727628571,2
    C,--1879514(+) CAATGC/TAGGCT 2 -- int14Minor allele frequency- T:0.18NA WA EA 360
    rs727628581,2
    C,--1879515(+) AATGCA/GGGCTG 2 -- int14Minor allele frequency- G:0.18NA WA EA 360
    rs1409167491,2
    --1879529(+) CTTGTA/GAGTAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for FAHD1 (1876968 - 1890208 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for FAHD1
         6 CNVs: 53272 4916 7090 5329 49668 49671

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FAHD1 for disorders           About GeneDecksing

    2 diseases for FAHD1:    About MalaCards
    hepatitis b    hepatitis

    Human Genome Epidemiology (HuGE) Navigator: FAHD1 (2 documents)

    Export disorders for FAHD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FAHD1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with FAHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human fumarylacetoacetate hydrolase domain containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase. (PubMed id 21878618)1, 2, 3 Pircher H....Jansen-Durr P. (2011)
    2. X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. (PubMed id 15551868)1, 2 Manjasetty B.A.... Heinemann U. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    6. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81889 HGNC: 14169 AceView: FAHD1 Ensembl:ENSG00000180185 euGenes: HUgn81889
    ECgene: FAHD1 H-InvDB: FAHD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FAHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAHD1 gene:
    Search GeneIP for patents involving FAHD1

    GeneCards and IP:
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