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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 ANKRD50.

Additional gene information for FANK1 Gene

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

Genomics for FANK1 Gene

Regulatory Elements for FANK1 Gene

Enhancers for FANK1 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
GH10H125972 1.2 Ensembl ENCODE 11 +77.3 77251 1.2 ATF1 ZNF473 INSM2 ZNF76 KLF17 RAD21 BRCA1 ZEB1 RFX5 ZNF366 EDRF1 EDRF1-AS1 UROS FANK1 FANK1-AS1 GC10M126013
GH10H125868 1 ENCODE dbSUPER 11.1 -27.7 -27658 0.2 CTCF PKNOX1 FOXA2 RAD21 ZNF664 GATA3 SCRT2 SMC3 ZNF143 TCF7L2 RNU2-42P FANK1 UROS BCCIP ENSG00000277371
GH10H126012 1.1 Ensembl ENCODE 8.7 +118.4 118380 3.7 HDAC1 FOXA2 TBL1XR1 INSM2 BATF RAD21 TCF12 EGR1 SCRT2 FOS EDRF1 UROS FANK1 GC10M126013 FANK1-AS1
GH10H125982 0.9 Ensembl ENCODE 9.8 +86.8 86820 1.7 CTCF ZNF654 ZNF792 TRIM22 REST ZIC2 RAD21 ZNF143 SMC3 PRDM1 UROS FANK1 FANK1-AS1 GC10M126013
GH10H125870 0.8 ENCODE dbSUPER 10.9 -24.5 -24515 2.4 OSR2 PRDM6 FEZF1 PRDM10 PRDM4 TRIM28 UROS FANK1 DHX32 MMP21 ENSG00000277371 GC10P125882 GC10P125883
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FANK1 on UCSC Golden Path with GeneCards custom track

Promoters for FANK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000034960 -23 2399 ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 GLIS2 RUNX3 SP5 YY2

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:
    No Data Available

    Alternative splice isoforms for FANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANK1 Gene

Post-translational modifications for FANK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FANK1 Gene

Domains & Families for FANK1 Gene

Gene Families for FANK1 Gene

Protein Domains for FANK1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for FANK1 Gene

Function for FANK1 Gene

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 Molecular function , 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.

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 3
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 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:0042981 regulation of apoptotic process IMP --
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 sequence-specific 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

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 Sequence Context AA Info Type
rs1000018863 -- 125,990,355(+) CACCA(C/T)TGCAC intron-variant, utr-variant-5-prime
rs1000037241 -- 125,902,183(+) GTGCA(A/G)CACAC intron-variant
rs1000087434 -- 125,953,615(+) GCCCT(C/G/T)AGATT intron-variant
rs1000118253 -- 125,897,920(+) GGGAG(A/G)CTGAG intron-variant, upstream-variant-2KB
rs1000171849 -- 125,968,463(+) ATGAG(A/T)TTTGG intron-variant

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

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

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)

Relevant External Links 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

Relevant External Links for FANK1

Genetic Association Database (GAD)
FANK1
Human Genome Epidemiology (HuGE) Navigator
FANK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANK1

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. 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 45 60
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  3. Genes to diseases (G2D) computational method to identify asthma candidate genes. (PMID: 18682798) Tremblay K … Laprise C (PloS one 2008) 3 45 60
  4. Fank1 is a testis-specific gene encoding a nuclear protein exclusively expressed during the transition from the meiotic to the haploid phase of spermatogenesis. (PMID: 17604233) Zheng Z … Yan W (Gene expression patterns : GEP 2007) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for FANK1 Gene

Sources for FANK1 Gene

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