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FANK1 Gene

protein-coding   GIFtS: 50
GCID: GC10P127575

Fibronectin Type III And Ankyrin Repeat Domains 1

(Previous name: fibronectin type 3 and ankyrin repeat domains 1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibronectin Type III And Ankyrin Repeat Domains 11 2
Fibronectin Type 3 And Ankyrin Repeat Domains 11 2
1700007B22Rik2
Fibronectin Type 3 And Ankyrin Repeat Domains Protein 12

External Ids:    HGNC: 235271   Entrez Gene: 925652   Ensembl: ENSG000002037807   OMIM: 6116405   UniProtKB: Q8TC843   

Export aliases for FANK1 gene to outside databases

Previous GC identifers: GC10P127159 GC10P121274


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 TANC2.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FANK1 gene promoter:
         RFX1   Spz1   NRSF form 1   SREBP-1c   NRSF form 2   YY1   SREBP-1b   N-Myc   SREBP-1a   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANK1 promoter sequence
   Search Chromatin IP Primers for FANK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FANK1


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

Entrez Gene cytogenetic band: 10q26.2   Ensembl cytogenetic band:  10q26.2   HGNC cytogenetic band: 10q26.2

FANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANK1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P127575:  view genomic region     (about GC identifiers)

Start:
127,585,108 bp from pter      End:
127,698,161 bp from pter
Size:
113,054 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FANK1_HUMAN, Q8TC84 (See protein sequence)
Recommended Name: Fibronectin type 3 and ankyrin repeat domains protein 1  
Size: 345 amino acids; 38341 Da
Secondary accessions: Q6UXY9 Q6X7T6
Alternative splicing: 3 isoforms:  Q8TC84-1   Q8TC84-2   Q8TC84-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FANK1: NX_Q8TC84

Explore proteomics data for FANK1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FANK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660278.3  
    ENSEMBL proteins: 
     ENSP00000357684   ENSP00000396356   ENSP00000415719   ENSP00000357680   ENSP00000357678  
     ENSP00000412737   ENSP00000357682   ENSP00000411388  

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    Novus Biologicals FANK1 Protein
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    Cloud-Clone Corp. Proteins for FANK1

     
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    antibodies-online peptides for FANK1

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    antibodies-online antibodies for FANK1 (19 products) 

    FANK1 Assay Products:

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    antibodies-online kits for FANK1 (18 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ANKRD: Ankyrin repeat domain containing

    4 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8TC84

    ProtoNet protein and cluster: Q8TC84

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: FANK1_HUMAN, Q8TC84
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 fibronectin type-III domain


    Find genes that share domains with FANK1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with FANK1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FANK1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FANK1
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    Block miRNA regulation of human, mouse, rat FANK1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate FANK1:
    hsa-miR-205* hsa-miR-520g hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidFANK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FANK1

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    GenScript: all cDNA clones in your preferred vector: FANK1 (NM_145235)
    Sino Biological Human cDNA Clone for FANK1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANK1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FANK1_HUMAN, Q8TC84: Nucleus. Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with FANK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FANK1
    Interactions:

        Search GeneGlobe Interaction Network for FANK1

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

    2 Interacting proteins for FANK1 (Q8TC843 ENSP000003576824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LZTR1Q8N6533, ENSP000002157394I2D: score=1 STRING: ENSP00000215739
    --ENSP000002336094STRING: ENSP00000233609
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FANK1



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FANK1 gene: 
    NM_145235.3  

    Unigene Cluster for FANK1:

    Fibronectin type III and ankyrin repeat domains 1
    Hs.352591  [show with all ESTs]
    Unigene Representative Sequence: CR627249
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368695(uc001ljh.4 uc009yan.3) ENST00000417114 ENST00000494896
    ENST00000445510 ENST00000368691 ENST00000368689 ENST00000492670 ENST00000456942
    ENST00000464130 ENST00000477963 ENST00000368693(uc001lji.3) ENST00000449042(uc010quk.1)

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate FANK1:
    hsa-miR-205* hsa-miR-520g hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidFANK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FANK1
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    GenScript: all cDNA clones in your preferred vector: FANK1 (NM_145235)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANK1
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    Primer
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    OriGene qPCR primer pairs and template standards for FANK1
    OriGene qSTAR qPCR primer pairs in human, mouse for FANK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANK1
      QuantiTect SYBR Green Assays in human, mouse, rat FANK1
      QuantiFast Probe-based Assays in human, mouse, rat FANK1

    Additional mRNA sequence: 

    AK021437.1 AK304407.1 AY251163.1 AY358154.1 BC024189.2 CR627249.1 

    13 DOTS entries:

    DT.92419524  DT.97800245  DT.95269016  DT.101982160  DT.97839742  DT.121252335  DT.102826243  DT.95119251 
    DT.121252201  DT.92419526  DT.91644632  DT.91862339  DT.95269014 

    Selected AceView cDNA sequences (see all 57):

    CA432498 BU684460 BX646834 BP369640 AY358154 CA312634 BG196422 BQ225468 
    CK906262 BM849813 BU621138 AL539498 BM924089 AA514551 AI767361 BM127680 
    AK021437 BF968255 AI005282 BC024189 N62955 BI828206 BX953319 BI831898 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAGTTAGT
    FANK1 Expression
    About this image

    FANK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352591

    UniProtKB/Swiss-Prot: FANK1_HUMAN, Q8TC84
    Tissue specificity: Mostly restricted to testis

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for FANK1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fank11 , 5 fibronectin type 3 and ankyrin repeat domains 11, 5 86.01(n)1
    88.92(a)1
      7 (77.42 cM)5
    669301  NM_025850.21  NP_080126.11 
     1337768615 
    lizard
    (Anolis carolinensis)
    Reptilia FANK16
    fibronectin type III and ankyrin repeat domains 1
    61(a)
    1 ↔ 1
    3(63123664-63176243)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.311822 Xenopus laevis transcribed sequence with weak similarity more 71.43(n)    48011485 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ419653.12   -- 73.87(n)    BQ419653.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425346
    --
    5(a)
    1 → many
    3R(23166344-23198296)
    worm
    (Caenorhabditis elegans)
    Secernentea nphp-26
    Protein NPHP-2 (nphp-2) mRNA, complete cds
    6(a)
    1 → many
    V(1895797-1906560) WBGene00021304


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FANK1 gene
    TANC22  ANKS32  ANKRD172  ANKRD292  FEM1A2  ANKHD12  KIDINS2202  ANKHD1-EIF4EBP32  
    FEM1B2  TANC12  ANKS62  FEM1C2  
    11 SIMAP similar genes for FANK1 using alignment to 7 protein entries:     FANK1_HUMAN (see all proteins):
    PPP1R12A    ANKRD44    ANKRD6    KIDINS220    ANKHD1    INVS
    TANC2    ANK2    DKFZp761E1322    MTPN    GABPB1

    Find genes that share paralogs with FANK1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FANK1 (see all 4457)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57887521,2
    C--121330583(+) cacac-/AC/A  
     CACACAC
    ACACT
    1 -- int11NA 2
    rs40876741,2
    C,F,A,H--127583116(-) GCTGTG/TAAGTT 1 -- us2k17Minor allele frequency- T:0.20NA WA CSA 20
    rs719014131,2
    C--127583153(+) TTACA-/AAGTGTT 1 -- us2k10--------
    rs769801891,2
    C,F--127583176(+) ATATCC/TCCATT 1 -- us2k15Minor allele frequency- T:0.38NA 16
    rs754153111,2
    F--127583186(+) TTTTTC/ACAAAC 1 -- us2k12Minor allele frequency- A:0.20NA 10
    rs765631261,2
    C,F--127583196(+) CTTAAG/AACTTC 1 -- us2k12Minor allele frequency- A:0.50NA 4
    rs760781751,2
    C,F--127583198(+) TAAAAC/TTTCTT 1 -- us2k14Minor allele frequency- T:0.36NA WA 14
    rs40876731,2
    C,F,A,H--127583213(-) AAGTAG/ATAAGG 1 -- us2k15Minor allele frequency- A:0.25NA WA 16
    rs786492081,2
    F--127583221(+) CTTTAG/ACATAG 1 -- us2k13Minor allele frequency- A:0.33NA 12
    rs786940101,2
    F--127583222(+) TTTAGC/TATAGA 1 -- us2k13Minor allele frequency- T:0.33NA 12

    HapMap Linkage Disequilibrium report for FANK1 (127585108 - 127698161 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FANK1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2742962CNV Deletion23290073
    esv2742995CNV Deletion23290073
    esv2742984CNV Deletion23290073
    nsv820776CNV Duplication20802225
    nsv527133CNV Loss19592680
    dgv179n67CNV Loss20364138
    nsv428241CNV Loss18775914
    nsv8738CNV Loss18304495
    esv2485694CNV Gain19546169
    esv25941CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FANK1
    DNA2.0 Custom Variant and Variant Library Synthesis for FANK1

    (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.)
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    OMIM gene information: 611640    OMIM disorders: --


    Find genes that share disorders with FANK1           About GenesLikeMe

    Genetic Association Database (GAD): FANK1
    Human Genome Epidemiology (HuGE) Navigator: FANK1 (3 documents)

    Export disorders for FANK1 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)
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    PubMed articles for FANK1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with FANK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    3. Genes to diseases (G2D) computational method to identify asthma candidate genes. (PubMed id 18682798)1, 4 Tremblay K....Laprise C. (PLoS ONE 2008)
    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. (PubMed id 17604233)1, 2 Zheng Z.... Yan W. (Gene Expr. Patterns 2007)
    5. 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. (Genome Res. 2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
    9. Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1 pathway. (PubMed id 20978819)1 Wang H....Wang L. (Cell. Mol. Life Sci. 2011)
    10. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 92565 HGNC: 23527 AceView: FANK1 Ensembl:ENSG00000203780 euGenes: HUgn92565
    ECgene: FANK1 H-InvDB: FANK1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FANK1 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 FANK1 gene:
    Search GeneIP for patents involving FANK1

    GeneCards and IP:
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