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Aliases for FUNDC1 Gene

Aliases for FUNDC1 Gene

  • FUN14 Domain Containing 1 2 3 5

External Ids for FUNDC1 Gene

Previous GeneCards Identifiers for FUNDC1 Gene

  • GC0XM043429
  • GC0XM044139
  • GC0XM044267
  • GC0XM044382
  • GC0XM042105

Summaries for FUNDC1 Gene

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. An important paralog of this gene is FUNDC2.

UniProtKB/Swiss-Prot for FUNDC1 Gene

  • Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control.

Gene Wiki entry for FUNDC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FUNDC1 Gene

Genomics for FUNDC1 Gene

Regulatory Elements for FUNDC1 Gene

Enhancers for FUNDC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF044264 0.6 ENCODE 4.7 +277.5 277479 1.2 FUNDC1 TATDN2P1 GC0XP044058
GH0XF044541 0.4 ENCODE 0.8 +0.3 272 2.2 ATF1 ZNF48 BRCA1 YY1 GLIS2 ELK1 ZNF143 KLF7 FOS SP3 FUNDC1 GC0XM044502
GH0XF044545 0.2 Ensembl 0.8 -2.6 -2600 0.4 ARID1B JUND RNF2 SMARCA4 IKZF1 REST FUNDC1 PIR31852
GH0XF044536 0.2 Ensembl 0.4 +6.6 6601 0.4 ZNF558 FUNDC1 GC0XM044502
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FUNDC1 on UCSC Golden Path with GeneCards custom track

Promoters for FUNDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071476 800 2799 ATF1 ZNF48 BRCA1 YY1 GLIS2 ELK1 ZNF143 KLF7 FOS SP3

Genomic Location for FUNDC1 Gene

Chromosome:
X
Start:
44,523,639 bp from pter
End:
44,543,001 bp from pter
Size:
19,363 bases
Orientation:
Minus strand

Genomic View for FUNDC1 Gene

Genes around FUNDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUNDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUNDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUNDC1 Gene

Proteins for FUNDC1 Gene

  • Protein details for FUNDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVP5-FUND1_HUMAN
    Recommended name:
    FUN14 domain-containing protein 1
    Protein Accession:
    Q8IVP5

    Protein attributes for FUNDC1 Gene

    Size:
    155 amino acids
    Molecular mass:
    17178 Da
    Quaternary structure:
    • Interacts (via YXXL motif) with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP.

neXtProt entry for FUNDC1 Gene

Post-translational modifications for FUNDC1 Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FUNDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FUNDC1 Gene

Domains & Families for FUNDC1 Gene

Protein Domains for FUNDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FUNDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVP5

UniProtKB/Swiss-Prot:

FUND1_HUMAN :
  • The YXXL motif mediates the interaction with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP.
  • Belongs to the FUN14 family.
Domain:
  • The YXXL motif mediates the interaction with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP.
Family:
  • Belongs to the FUN14 family.
genes like me logo Genes that share domains with FUNDC1: view

No data available for Gene Families for FUNDC1 Gene

Function for FUNDC1 Gene

Molecular function for FUNDC1 Gene

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

Gene Ontology (GO) - Molecular Function for FUNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
genes like me logo Genes that share ontologies with FUNDC1: view
genes like me logo Genes that share phenotypes with FUNDC1: view

Animal Models for FUNDC1 Gene

MGI Knock Outs for FUNDC1:

Animal Model Products

miRNA for FUNDC1 Gene

miRTarBase miRNAs that target FUNDC1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FUNDC1 Gene

Localization for FUNDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUNDC1 Gene

Mitochondrion outer membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FUNDC1 Gene COMPARTMENTS Subcellular localization image for FUNDC1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FUNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IDA 22267086
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031307 integral component of mitochondrial outer membrane IDA 22267086
genes like me logo Genes that share ontologies with FUNDC1: view

Pathways & Interactions for FUNDC1 Gene

SuperPathways for FUNDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FUNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitophagy IMP 22267086
GO:0001666 response to hypoxia IMP 22267086
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with FUNDC1: view

No data available for Pathways by source and SIGNOR curated interactions for FUNDC1 Gene

Transcripts for FUNDC1 Gene

mRNA/cDNA for FUNDC1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(34) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FUNDC1 Gene

FUN14 domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FUNDC1 Gene

No ASD Table

Relevant External Links for FUNDC1 Gene

GeneLoc Exon Structure for
FUNDC1
ECgene alternative splicing isoforms for
FUNDC1

Expression for FUNDC1 Gene

mRNA expression in normal human tissues for FUNDC1 Gene

Protein differential expression in normal tissues from HIPED for FUNDC1 Gene

This gene is overexpressed in Brain (28.8) and Frontal cortex (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FUNDC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FUNDC1 Gene:

FUNDC1

SOURCE GeneReport for Unigene cluster for FUNDC1 Gene:

Hs.7549

mRNA Expression by UniProt/SwissProt for FUNDC1 Gene:

Q8IVP5-FUND1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with FUNDC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for FUNDC1 Gene

Orthologs for FUNDC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FUNDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUNDC1 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia FUNDC1 35
  • 97 (a)
OneToOne
LOC491842 34
  • 94.84 (n)
cow
(Bos Taurus)
Mammalia FUNDC1 34 35
  • 92.9 (n)
rat
(Rattus norvegicus)
Mammalia Fundc1 34
  • 92.47 (n)
mouse
(Mus musculus)
Mammalia Fundc1 34 16 35
  • 92.04 (n)
oppossum
(Monodelphis domestica)
Mammalia FUNDC1 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUNDC1 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves FUNDC1 34 35
  • 84.3 (n)
lizard
(Anolis carolinensis)
Reptilia FUNDC1 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fundc1 34
  • 77.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25994 34
zebrafish
(Danio rerio)
Actinopterygii fundc1 34 35
  • 73.03 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5416 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7326 35
  • 41 (a)
OneToMany
Species where no ortholog for FUNDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FUNDC1 Gene

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

Paralogs for FUNDC1 Gene

Paralogs for FUNDC1 Gene

(1) SIMAP similar genes for FUNDC1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FUNDC1 Gene

genes like me logo Genes that share paralogs with FUNDC1: view

Variants for FUNDC1 Gene

Sequence variations from dbSNP and Humsavar for FUNDC1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs111330339 -- 44,530,795(+) ACACC(-/TG)TAATC intron-variant
rs111359869 -- 44,524,375(+) AGAAC(A/G)GATAT intron-variant
rs111649228 -- 44,536,043(+) GCTCA(C/T)GCCTG intron-variant
rs112433135 -- 44,529,923(+) ATCCT(C/G)CTGCC intron-variant
rs112465233 -- 44,539,794(+) CCTGA(A/C)TAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FUNDC1 Gene

Variant ID Type Subtype PubMed ID
dgv513n21 CNV gain 19592680
esv2192771 CNV deletion 18987734
esv2740114 CNV deletion 23290073
esv2740115 CNV deletion 23290073
esv3573916 CNV loss 25503493
nsv1126138 CNV deletion 24896259
nsv1128534 CNV deletion 24896259

Variation tolerance for FUNDC1 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FUNDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUNDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FUNDC1 Gene

Disorders for FUNDC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FUNDC1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypoxia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FUNDC1

Genetic Association Database (GAD)
FUNDC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FUNDC1
genes like me logo Genes that share disorders with FUNDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FUNDC1 Gene

Publications for FUNDC1 Gene

  1. Mitochondrial outer-membrane protein FUNDC1 mediates hypoxia-induced mitophagy in mammalian cells. (PMID: 22267086) Liu L. … Chen Q. (Nat. Cell Biol. 2012) 3 4 64
  2. Genome-wide association scan for five major dimensions of personality. (PMID: 18957941) Terracciano A. … Costa P.T. (Mol. Psychiatry 2010) 3 46 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64

Products for FUNDC1 Gene

Sources for FUNDC1 Gene

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