Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FANK1 Gene

Aliases for FANK1 Gene

  • Fibronectin Type III And Ankyrin Repeat Domains 1 2 3 5
  • Fibronectin Type 3 And Ankyrin Repeat Domains 1 2 3
  • Fibronectin Type 3 And Ankyrin Repeat Domains Protein 1 3
  • 1700007B22Rik 3
  • HSD13 3

External Ids for FANK1 Gene

Previous GeneCards Identifiers for FANK1 Gene

  • GC10P127159
  • GC10P127575
  • GC10P121274

Summaries for FANK1 Gene

GeneCards Summary for FANK1 Gene

FANK1 (Fibronectin Type III And Ankyrin Repeat Domains 1) is a Protein Coding gene. An important paralog of this gene is ANKRD24.

UniProtKB/Swiss-Prot for FANK1 Gene

  • Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis.

Additional gene information for FANK1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANK1 Gene

Genomics for FANK1 Gene

GeneHancer (GH) Regulatory Elements for FANK1 Gene

Promoters and enhancers for FANK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I125894 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 0.0 -7 2.8 ARID4B SIN3A DMAP1 YY1 ZNF263 SP3 SP5 MXD4 REST ZNF662 DHX32 FANK1 EDRF1 EDRF1-AS1 CTBP2 BCCIP MMP21 RNU2-42P GC10M125891
GH10I125895 Enhancer 0.7 ENCODE dbSUPER 550.8 -1.7 -1677 0.2 ZNF687 FOXK2 SUZ12 CUX1 FOXA1 FANK1 DHX32 GC10M125891 RNU2-42P
GH10I125972 Enhancer 1.1 Ensembl ENCODE 11 +77.3 77251 1.2 ATF1 BRCA1 ATF7 FOS SP3 TSHZ1 ZNF518A STAT3 SP7 ZBTB21 FANK1-AS1 EDRF1 EDRF1-AS1 UROS FANK1 ENSG00000234134 GC10M126013
GH10I125868 Enhancer 0.9 ENCODE dbSUPER 11.1 -27.7 -27657 0.2 CTCF PKNOX1 FOXA2 RAD21 ZNF664 GATA3 SCRT2 ZNF143 SMC3 ZNF444 ENSG00000277371 RNU2-42P FANK1 BCCIP UROS DHX32
GH10I126012 Enhancer 1 Ensembl ENCODE 8.7 +118.4 118379 3.7 HDAC1 FOXA2 INSM2 BATF RAD21 ZNF335 TCF12 EGR1 SCRT2 FOS GC10M126013 EDRF1 UROS FANK1 FANK1-AS1 ADAM12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FANK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FANK1 gene promoter:

Genomic Locations for FANK1 Gene

Genomic Locations for FANK1 Gene
chr10:125,896,224-126,009,592
(GRCh38/hg38)
Size:
113,369 bases
Orientation:
Plus strand
chr10:127,585,108-127,698,161
(GRCh37/hg19)

Genomic View for FANK1 Gene

Genes around FANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANK1 Gene

Proteins for FANK1 Gene

  • Protein details for FANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC84-FANK1_HUMAN
    Recommended name:
    Fibronectin type 3 and ankyrin repeat domains protein 1
    Protein Accession:
    Q8TC84
    Secondary Accessions:
    • Q6UXY9
    • Q6X7T6

    Protein attributes for FANK1 Gene

    Size:
    345 amino acids
    Molecular mass:
    38341 Da
    Quaternary structure:
    • Interacts with COPS5; regulates the phosphorylation of JUN and the transcriptional activity of AP-1 (PubMed:20978819). Interacts with RYBP; may prevent the ubiquitin-mediated proteasomal degradation of FANK1 (PubMed:27060496).

    Alternative splice isoforms for FANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANK1 Gene

Post-translational modifications for FANK1 Gene

  • Polyubiquitinated. Polyubiquitination leads to proteasomal degradation.

No data available for DME Specific Peptides for FANK1 Gene

Domains & Families for FANK1 Gene

Gene Families for FANK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TC84

UniProtKB/Swiss-Prot:

FANK1_HUMAN :
  • The fibronectin type-III domain mediates interaction with COPS5 and RYBP.
Domain:
  • The fibronectin type-III domain mediates interaction with COPS5 and RYBP.
genes like me logo Genes that share domains with FANK1: view

Function for FANK1 Gene

Molecular function for FANK1 Gene

UniProtKB/Swiss-Prot Function:
Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis.

Phenotypes From GWAS Catalog for FANK1 Gene

Gene Ontology (GO) - Molecular Function for FANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20978819
genes like me logo Genes that share ontologies with FANK1: view

Phenotypes for FANK1 Gene

GenomeRNAi human phenotypes for FANK1:
genes like me logo Genes that share phenotypes with FANK1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FANK1 Gene

Localization for FANK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANK1 Gene

Nucleus. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANK1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 20978819
GO:0005634 nucleus IEA,IDA 20978819
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 27060496
GO:0005829 cytosol IDA,IEA 20978819
genes like me logo Genes that share ontologies with FANK1: view

Pathways & Interactions for FANK1 Gene

SuperPathways for FANK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043065 positive regulation of apoptotic process IMP 27060496
GO:0043066 negative regulation of apoptotic process IMP 20978819
GO:0045893 positive regulation of transcription, DNA-templated IMP 27060496
GO:0051091 positive regulation of DNA binding transcription factor activity IMP 20978819
genes like me logo Genes that share ontologies with FANK1: view

No data available for Pathways by source and SIGNOR curated interactions for FANK1 Gene

Drugs & Compounds for FANK1 Gene

No Compound Related Data Available

Transcripts for FANK1 Gene

Unigene Clusters for FANK1 Gene

Fibronectin type III and ankyrin repeat domains 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FANK1 Gene

No ASD Table

Relevant External Links for FANK1 Gene

GeneLoc Exon Structure for
FANK1
ECgene alternative splicing isoforms for
FANK1

Expression for FANK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FANK1 Gene

mRNA differential expression in normal tissues according to GTEx for FANK1 Gene

This gene is overexpressed in Testis (x12.9).

Protein differential expression in normal tissues from HIPED for FANK1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FANK1 Gene



Protein tissue co-expression partners for FANK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FANK1 Gene:

FANK1

SOURCE GeneReport for Unigene cluster for FANK1 Gene:

Hs.352591

mRNA Expression by UniProt/SwissProt for FANK1 Gene:

Q8TC84-FANK1_HUMAN
Tissue specificity: Mostly restricted to testis.

Evidence on tissue expression from TISSUES for FANK1 Gene

  • Stomach(2)
genes like me logo Genes that share expression patterns with FANK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FANK1 Gene

Orthologs for FANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANK1 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia FANK1 33 34
  • 90.28 (n)
rat
(Rattus norvegicus)
Mammalia Fank1 33
  • 86.2 (n)
mouse
(Mus musculus)
Mammalia Fank1 33 16 34
  • 86.01 (n)
cow
(Bos Taurus)
Mammalia FANK1 33 34
  • 85.66 (n)
oppossum
(Monodelphis domestica)
Mammalia FANK1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANK1 34
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANK1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fank1 33
  • 66.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31182 33
zebrafish
(Danio rerio)
Actinopterygii fank1 33 34
  • 58.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42534 34
  • 5 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nphp-2 34
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7190 34
  • 48 (a)
OneToOne
Species where no ortholog for FANK1 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for FANK1 Gene

ENSEMBL:
Gene Tree for FANK1 (if available)
TreeFam:
Gene Tree for FANK1 (if available)

Paralogs for FANK1 Gene

Paralogs for FANK1 Gene

genes like me logo Genes that share paralogs with FANK1: view

Variants for FANK1 Gene

Sequence variations from dbSNP and Humsavar for FANK1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000018863 -- 125,990,355(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000037241 -- 125,902,183(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000087434 -- 125,953,615(+) G/C/T genic_upstream_transcript_variant, intron_variant
rs1000118253 -- 125,897,920(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000171849 -- 125,968,463(+) T/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FANK1 Gene

Variant ID Type Subtype PubMed ID
dgv179n67 CNV loss 20364138
dgv521e59 CNV duplication 20981092
dgv522e59 CNV duplication 20981092
dgv531n106 CNV duplication 24896259
esv22980 CNV gain 19812545
esv2485694 CNV gain 19546169
esv25941 CNV gain 19812545
esv2623784 CNV gain 19546169
esv2759788 CNV gain 17122850
esv2761638 CNV loss 21179565
esv2762884 CNV loss 21179565
esv2861568 CNV duplication 24192839
esv33389 CNV gain 17666407
esv3433939 CNV duplication 20981092
esv3624847 CNV loss 21293372
esv6291 OTHER inversion 19470904
esv8034 OTHER inversion 19470904
nsv1075423 CNV duplication 25765185
nsv1077324 CNV duplication 25765185
nsv1113343 CNV deletion 24896259
nsv1137969 CNV deletion 24896259
nsv1148754 CNV duplication 26484159
nsv1159780 CNV duplication 26073780
nsv428241 CNV loss 18775914
nsv474568 CNV novel sequence insertion 20440878
nsv527133 CNV loss 19592680
nsv820776 CNV duplication 20802225
nsv8738 CNV loss 18304495
nsv948223 CNV duplication 23825009
nsv948224 CNV duplication 23825009
nsv951871 CNV duplication 24416366
nsv951872 CNV duplication 24416366
nsv974953 CNV duplication 23825009
nsv982779 CNV duplication 23825009

Variation tolerance for FANK1 Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FANK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANK1 Gene

Disorders for FANK1 Gene

Additional Disease Information for FANK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FANK1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FANK1 Gene

Publications for FANK1 Gene

  1. Proapoptotic RYBP interacts with FANK1 and induces tumor cell apoptosis through the AP-1 signaling pathway. (PMID: 27060496) Ma W … Chen D (Cellular signalling 2016) 3 4 58
  2. Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1 pathway. (PMID: 20978819) Wang H … Wang L (Cellular and molecular life sciences : CMLS 2011) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  5. Genes to diseases (G2D) computational method to identify asthma candidate genes. (PMID: 18682798) Tremblay K … Laprise C (PloS one 2008) 3 44 58

Products for FANK1 Gene

Sources for FANK1 Gene

Content
Loading form....