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

FUNDC1 Gene

protein-coding   GIFtS: 45
GCID: GC0XM044382

FUN14 Domain Containing 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
FUN14 Domain Containing 11 2
FUN14 Domain-Containing Protein 12

External Ids:    HGNC: 287461   Entrez Gene: 1393412   Ensembl: ENSG000000695097   OMIM: 3008715   UniProtKB: Q8IVP53   

Export aliases for FUNDC1 gene to outside databases

Previous GC identifers: GC0XM043429 GC0XM044139 GC0XM044267 GC0XM042105


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

Entrez Gene summary for FUNDC1 Gene:
This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known.
(provided by RefSeq, Sep 2011)

GeneCards Summary for FUNDC1 Gene: 
FUNDC1 (FUN14 domain containing 1) is a protein-coding gene. Diseases associated with FUNDC1 include hypoxia, and gastric cancer. GO annotations related to this gene include protein binding. An important paralog of this gene is FUNDC2.

UniProtKB/Swiss-Prot: FUND1_HUMAN, Q8IVP5
Function: Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality
control

Gene Wiki entry for FUNDC1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FUNDC1 gene promoter:
         FOXF2   ATF-2   XBP-1   CUTL1   Evi-1   CRE-BP1   RORalpha1   POU2F1   Nkx6-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFUNDC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FUNDC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FUNDC1


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

Entrez Gene cytogenetic band: Xp11.3   Ensembl cytogenetic band:  Xp11.3   HGNC cytogenetic band: Xp11.4

FUNDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FUNDC1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM044382:  view genomic region     (about GC identifiers)

Start:
44,382,885 bp from pter      End:
44,402,247 bp from pter
Size:
19,363 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FUND1_HUMAN, Q8IVP5 (See protein sequence)
Recommended Name: FUN14 domain-containing protein 1  
Size: 155 amino acids; 17178 Da
Subunit: Interacts (via YXXL motif) with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein

Explore the universe of human proteins at neXtProt for FUNDC1: NX_Q8IVP5

Explore proteomics data for FUNDC1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Tyr-18 by SRC inhibits activation of mitophagy. Following hypoxia, dephosphorylated at Tyr-18,
    leading to interaction with MAP1 LC3 family proteins and triggering mitophagy
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IVP5

  • FUNDC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FUNDC1 Protein Expression
    REFSEQ proteins: NP_776155.1  
    ENSEMBL proteins: 
     ENSP00000367284  

    Human Recombinant Protein Products for FUNDC1: 
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    Cloud-Clone Corp. Proteins for FUNDC1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005741mitochondrial outer membrane IDA--
    GO:0031307integral to mitochondrial outer membrane IDA--

    FUNDC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007014 FUN14

    Graphical View of Domain Structure for InterPro Entry Q8IVP5

    ProtoNet protein and cluster: Q8IVP5

    UniProtKB/Swiss-Prot: FUND1_HUMAN, Q8IVP5
    Domain: The YXXL motif mediates the interaction with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP
    (PubMed:22267086)
    Similarity: Belongs to the FUN14 family


    FUNDC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FUND1_HUMAN, Q8IVP5
    Function: Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality
    control

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    FUNDC1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FUNDC1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FUNDC1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUNDC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FUNDC1

    2 Interacting proteins for FUNDC1 (Q8IVP53) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1LC3AQ9H4923I2D: score=2 
    MAP1LC3BQ9GZQ83I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IMP--
    GO:0001666response to hypoxia IMP--

    FUNDC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FUNDC1 (FUND1)

    Search CenterWatch for drugs/clinical trials and news about FUNDC1 / FUND1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FUNDC1 gene: 
    NM_173794.3  

    Unigene Cluster for FUNDC1:

    FUN14 domain containing 1
    Hs.7549  [show with all ESTs]
    Unigene Representative Sequence: NM_173794
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378045(uc004dgc.3) ENST00000483115
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FUNDC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FUNDC1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FUNDC1
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FUNDC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FUNDC1

    Additional mRNA sequence: 

    BC035015.2 BC042813.1 

    2 DOTS entries:

    DT.40200969  DT.97861583 

    24/34 AceView cDNA sequences (see all 34):

    BX282441 AI571940 BP871219 BM837991 CB118016 BQ220222 T25867 BQ631739 
    BU959085 NM_173794 BI596548 BM461507 BF033615 BQ632035 AI636066 BC035015 
    BI548142 BI598082 CD389571 BI552210 BI256389 BC042813 L44560 BM743511 

    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

    FUNDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATAGTTTC
    FUNDC1 Expression
    About this image


    See FUNDC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FUNDC1

    SOURCE GeneReport for Unigene cluster: Hs.7549

    UniProtKB/Swiss-Prot: FUND1_HUMAN, Q8IVP5
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for FUNDC1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FUNDC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUNDC1

    (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 common ancestor of animals.

    Orthologs for FUNDC1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fundc11 , 5 FUN14 domain containing 11, 5 92.04(n)1
    96.13(a)1
      X (12.80 cM)5
    720181  NM_028058.31  NP_082334.11 
     175565645 
    chicken
    (Gallus gallus)
    Aves FUNDC11 FUN14 domain containing 1 84.3(n)
    88.39(a)
      418558  XM_416763.3  XP_416763.2 
    lizard
    (Anolis carolinensis)
    Reptilia FUNDC16
    FUN14 domain containing 1
    86(a)
    1 ↔ 1
    3(135488448-135511207)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.259942 Xenopus laevis transcribed sequence with weak similarity more 80.67(n)    CA973114.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fundc11 FUN14 domain containing 1 73.47(n)
    74.83(a)
      436984  NM_001002711.2  NP_001002711.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56766
    --
    24(a)
    1 → many
    2L(10254610-10255891)


    ENSEMBL Gene Tree for FUNDC1 (if available)
    TreeFam Gene Tree for FUNDC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FUNDC1 gene
    FUNDC22  
    1 SIMAP similar gene for FUNDC1 using alignment to 1 protein entry:     FUND1_HUMAN:
    FUNDC2

    FUNDC1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FUNDC1
    PGOHUM00000242515 PGOHUM00000243471


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/320 SNPs in FUNDC1 are shown (see all 320)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1853299101,2
    --44301028(+) TAGTAC/TTTCCT 1 -- ds50010--------
    rs1383102961,2
    C--44301056(+) AAATGC/TACAGT 1 -- ds50010--------
    rs59534301,2
    C--44301060(+) GTACAC/GTTATg 1 -- ds50010--------
    rs11810161,2
    C,A,H--44301240(-) CCTCCC/TGAGTA 1 -- ds50016Minor allele frequency- T:0.00NA WA 10
    rs1487697951,2
    --44301279(+) GAGGCA/GGAGGA 1 -- ds50010--------
    rs1894428271,2
    --44301304(+) ATCATA/GCCACT 1 -- ds50010--------
    rs765022891,2
    C--44301362(+) AAAAAA/CCAAAA 1 -- ds50010--------
    rs1424994291,2
    --44301403(+) AAGTAA/GTAACT 1 -- ds50010--------
    rs1848890801,2
    C--44301413(+) TCCAGA/GAAAAA 1 -- ds50010--------
    rs2006199551,2
    C--44301546(+) TATCT-/AAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FUNDC1 (44382885 - 44402247 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FUNDC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740114CNV Deletion23290073
    esv2192771CNV Deletion18987734
    esv2740115CNV Deletion23290073
    dgv513n21CNV Gain19592680


    Locus Specific Mutation Databases (LSDB): FUNDC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FUNDC1
    DNA2.0 Custom Variant and Variant Library Synthesis for FUNDC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300871    OMIM disorders: --

    2 diseases for FUNDC1:    About MalaCards
    hypoxia    gastric cancer


    FUNDC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FUNDC1

    Export disorders for FUNDC1 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 FUNDC1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with FUNDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitochondrial outer-membrane protein FUNDC1 mediates hypoxia-induced mitophagy in mammalian cells. (PubMed id 22267086)1, 2 Liu L.... Chen Q. (2012)
    2. Genome-wide association scan for five major dimensions of personality. (PubMed id 18957941)1, 4 Terracciano A....Costa P.T. (2008)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    4. 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)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 139341 HGNC: 28746 AceView: FUNDC1 Ensembl:ENSG00000069509 euGenes: HUgn139341
    ECgene: FUNDC1 H-InvDB: FUNDC1

    (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 FUNDC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FUNDC1 gene:
    Search GeneIP for patents involving FUNDC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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