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KANK1 Gene

protein-coding   GIFtS: 56
GCID: GC09P000474

KN Motif And Ankyrin Repeat Domains 1

(Previous name: ankyrin repeat domain 15)
(Previous symbol: ANKRD15)
  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)
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Aliases
KN Motif And Ankyrin Repeat Domains 11 2     CPSQ22 5
ANKRD151 2 3 5     KIAA01723 5
KANK2 3 5     Ankyrin Repeat Domain 151
Ankyrin Repeat Domain-Containing Protein 152 3     KN Motif And Ankyrin Repeat Domain-Containing Protein 12
Kidney Ankyrin Repeat-Containing Protein2 3     

External Ids:    HGNC: 193091   Entrez Gene: 231892   Ensembl: ENSG000001071047   OMIM: 6077045   UniProtKB: Q146783   

Export aliases for KANK1 gene to outside databases

Previous GC identifer: GC09P000461


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KANK1 Gene:
The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat
domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is
a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic
quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of
the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a
myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in
multiple transcript variants. A related pseuodgene has been identified on chromosome 20. (provided by RefSeq, Mar
2012)

GeneCards Summary for KANK1 Gene:
KANK1 (KN motif and ankyrin repeat domains 1) is a protein-coding gene. Diseases associated with KANK1 include cerebral palsy, spastic quadriplegic, 2, and familial congenital fourth cranial nerve palsy. GO annotations related to this gene include beta-catenin binding. An important paralog of this gene is KANK2.

UniProtKB/Swiss-Prot: KANK1_HUMAN, Q14678
Function: Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin
fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through
PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them
from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on
the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits
fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth.
Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In
the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for
renal cell carcinoma

Gene Wiki entry for KANK1 (ANKRD15) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KANK1 gene promoter:
         AhR   Pax-5   ATF-2   Lmo2   GATA-2   AREB6   E2F   COMP1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 12): KANK1 promoter sequence
   Search Chromatin IP Primers for KANK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KANK1


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

Entrez Gene cytogenetic band: 9p24.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

KANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KANK1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P000474:  view genomic region     (about GC identifiers)

Start:
470,291 bp from pter      End:
746,105 bp from pter
Size:
275,815 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KANK1_HUMAN, Q14678 (See protein sequence)
Recommended Name: KN motif and ankyrin repeat domain-containing protein 1  
Size: 1352 amino acids; 147289 Da
Subunit: Interacts with YWHAQ; the interaction requires KANK1 phosphorylation at Ser-325 and is enhanced by growth
factor stimulation. Interacts with YWHAB, YWHAG, YWHAE, YWHAH, YWHAZ and SFN; the interaction requires KANK1
phosphorylation at Ser-325. Interacts with ARFGEF1; however, colocalization cannot be experimentally confirmed.
Interacts with BAIAP2. Interacts (via ANK repeats 1-5) with KIF21A (via coiled coil region); KIF21A enhances
translocation of KANK1 to the plasma membrane. Interacts with CTNNB1
Sequence caution: Sequence=BAA11489.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2A2W8 D3DRH3 Q5W0W0 Q8IY65 Q8WX74
Alternative promoter usage: 2 isoforms:  Q14678-1   Q14678-2   

Explore the universe of human proteins at neXtProt for KANK1: NX_Q14678

Explore proteomics data for KANK1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KANK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243805.1  NP_001243806.1  NP_055973.2  NP_694856.1  

    ENSEMBL proteins: 
     ENSP00000371740   ENSP00000371734   ENSP00000371730   ENSP00000371726   ENSP00000371723  

    KANK1 Human Recombinant Protein Products:

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    Novus Biologicals KANK1 Protein
    Novus Biologicals KANK1 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for KANK1

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    KANK1 Assay Products:

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    Cloud-Clone Corp. CLIAs for KANK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    KANK: KN motif and ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR021939 KN_motif
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q14678

    ProtoNet protein and cluster: Q14678

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: KANK1_HUMAN, Q14678
    Similarity: Contains 5 ANK repeats


    KANK1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KANK1_HUMAN, Q14678
    Function: Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin
    fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through
    PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them
    from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on
    the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits
    fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth.
    Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In
    the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for
    renal cell carcinoma

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16968744
    GO:0008013beta-catenin binding IDA16968744
         
    KANK1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KANK1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KANK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KANK1

    miRNA
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    miRTarBase miRNAs that target KANK1:
    hsa-mir-100-5p (MIRT048597), hsa-mir-335-5p (MIRT017826), hsa-mir-124-3p (MIRT004930), hsa-mir-10a-5p (MIRT047719)

    Block miRNA regulation of human, mouse, rat KANK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KANK1 (see all 28):
    hsa-miR-3910 hsa-miR-429 hsa-miR-181c hsa-miR-15a hsa-miR-503 hsa-miR-4299 hsa-miR-124 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidKANK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KANK1

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    GenScript: all cDNA clones in your preferred vector (see all 2): KANK1 (NM_153186)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KANK1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KANK1


    (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
    KANK1_HUMAN, Q14678: Cell projection, ruffle membrane. Note=Colocalizes with KIF21A in membrane ruffles
    KANK1_HUMAN, Q14678: Isoform 1: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus
    KANK1_HUMAN, Q14678: Isoform 2: Cytoplasm. Nucleus. Cell projection, ruffle membrane. Note=Shuttles between the
    cytoplasm and nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0032587ruffle membrane IDA19559006

    KANK1 for ontologies           About GeneDecksing


    (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 KANK1
    Interactions:

        Search GeneGlobe Interaction Network for KANK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for KANK1 (Q146781, 2, 3 ENSP000003717344) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273481, 2, 3, ENSP000002380814EBI-6173812,EBI-359854 MINT-8008416 I2D: score=1 STRING: ENSP00000238081
    CTNNB1P352221, 3, ENSP000003444564EBI-2556221,EBI-491549 I2D: score=1 STRING: ENSP00000344456
    BAIAP2Q9UQB81, 3, ENSP000003163384EBI-2556221,EBI-525456 I2D: score=1 STRING: ENSP00000316338
    PPP1CAP621363, ENSP000003260314I2D: score=1 STRING: ENSP00000326031
    YWHAHQ049171, ENSP000002489754EBI-6173812,EBI-306940 STRING: ENSP00000248975
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0010977negative regulation of neuron projection development IDA19171758
    GO:0030177positive regulation of Wnt signaling pathway IDA16968744
    GO:0030336negative regulation of cell migration IMP18458160

    KANK1 for ontologies           About GeneDecksing



    (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 KANK1



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KANK1 gene (4 alternative transcripts): 
    NM_001256876.1  NM_001256877.1  NM_015158.3  NM_153186.4  

    Unigene Cluster for KANK1:

    KN motif and ankyrin repeat domains 1
    Hs.306764  [show with all ESTs]
    Unigene Representative Sequence: NM_001256877
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382303(uc003zgl.1) ENST00000467541 ENST00000475690 ENST00000489369(uc003zgn.1 uc010mgy.1)
    ENST00000354485(uc003zgm.3) ENST00000382297(uc003zgo.1 uc003zgp.1 uc003zgq.2 uc003zgr.1)
    ENST00000382293(uc003zgs.1) ENST00000382289(uc010mgx.1) ENST00000382286(uc003zgt.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat KANK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KANK1 (see all 28):
    hsa-miR-3910 hsa-miR-429 hsa-miR-181c hsa-miR-15a hsa-miR-503 hsa-miR-4299 hsa-miR-124 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidKANK1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KANK1
    Predesigned siRNA for gene silencing in human, mouse, rat KANK1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KANK1 (NM_153186)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KANK1
    Primer
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    OriGene qPCR primer pairs and template standards for KANK1
    OriGene qSTAR qPCR primer pairs in human, mouse for KANK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KANK1
      QuantiTect SYBR Green Assays in human, mouse, rat KANK1
      QuantiFast Probe-based Assays in human, mouse, rat KANK1

    Additional mRNA sequence: 

    AB205106.1 AB205107.1 AB205108.1 AB205109.1 AB205110.1 AB205111.1 AB205112.1 AB205113.1 
    AK025428.1 AK025636.1 AK026421.1 AK075182.1 AK290028.1 AK292989.1 AK311119.1 AL833015.1 
    AL833161.1 BC020040.1 BC037495.2 BC038116.2 D79994.2 

    24 DOTS entries:

    DT.446770  DT.97842681  DT.100027583  DT.102826417  DT.100780440  DT.95142104  DT.121171153  DT.100027580 
    DT.121170911  DT.438026  DT.92019750  DT.100780442  DT.121171135  DT.99933075  DT.121170929  DT.121171088 
    DT.121171198  DT.95243464  DT.97787843  DT.100651730  DT.121171064  DT.40300217  DT.95153277  DT.97859821 

    Selected AceView cDNA sequences (see all 207):

    AA430532 CB266666 BU626132 NM_153186 AA918565 AA887660 AI470967 BI020436 
    BX100237 AI040528 CD108152 BE276840 AA968780 AA677433 BU677735 AI373524 
    BF196842 AI417958 BM672808 AA885708 AI096574 BU959281 AW591585 AA649052 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KANK1 (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -           -     -     -     -     -     -   
    SP5:                    -                       -     -     -     -                                                                                             

    ExUns: 16b ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e · 18f · 18g · 18h · 18i · 18j ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:                                                                                                                                                
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:  -                                                                                                                                             
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for KANK1

    (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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    KANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAACTACA
    KANK1 Expression
    About this image


    KANK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Diencephalic Roof Plate
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Pelvic Girdle
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Medulla Oblongata
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Endochondral Facial Bones
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
    KANK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KANK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.306764

    UniProtKB/Swiss-Prot: KANK1_HUMAN, Q14678
    Tissue specificity: Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably
    is widely expressed at basic levels

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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 KANK1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kank11 , 5 KN motif and ankyrin repeat domains 11, 5 84.55(n)1
    84.53(a)1
      19 (20.33 cM)5
    1073511  NM_181404.51  NP_852069.41 
     252369755 
    chicken
    (Gallus gallus)
    Aves KANK11 KN motif and ankyrin repeat domains 1 70.61(n)
    71.08(a)
      395475  XM_004949056.1  XP_004949113.1 
    lizard
    (Anolis carolinensis)
    Reptilia KANK16
    KN motif and ankyrin repeat domains 1
    68(a)
    1 ↔ 1
    2(50225073-50290209)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX778028.12   -- 74.02(n)    BX778028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kank11 KN motif and ankyrin repeat domains 1 61.81(n)
    60.05(a)
      777729  XM_002662070.3  XP_002662116.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102496
    --
    20(a)
    1 → many
    2R(10788980-10815930)
    worm
    (Caenorhabditis elegans)
    Secernentea vab-196
    Protein VAB-19 (vab-19) mRNA, complete cds
    22(a)
    1 → many
    II(2443292-2451140) WBGene00006882


    ENSEMBL Gene Tree for KANK1 (if available)
    TreeFam Gene Tree for KANK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KANK1 gene
    KANK22  KANK42  KANK32  
    9 SIMAP similar genes for KANK1 using alignment to 6 protein entries:     KANK1_HUMAN (see all proteins):
    DKFZp451G231    DKFZp666N084    KANK2    Kank3    KANK4    IkBa
    PPP1R12A    Kank4    NRARP

    KANK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KANK1
    PGOHUM00000247435


    (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 KANK1 (see all 9083)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119324301,2
    C,F--442913(+) TTTGTA/CGAGAT 1 -- int13Minor allele frequency- C:0.09WA CSA 121
    rs1462737791,2
    --456548(+) GTGCC-/GCGCCCC
    GTGCCGCGCT
    GCGCC
    3 -- int10--------
    rs362176121,2
    C--458319(+) TCTGGGTGTGT/-
            
    GTGTG
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs1837661731,2
    --462396(+) ACACTC/GCAGCC 1 -- us2k10--------
    rs799428281,2
    C--462559(+) AGGTCA/GAGACT 1 -- us2k10--------
    rs107586331,2
    C,F,A,H--462618(+) TACCTA/GGGTAT 1 -- us2k17Minor allele frequency- G:0.44WA NA 248
    rs1114308861,2
    C--462654(+) TACTTG/-GGGGG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1925304491,2
    --462660(+) GGGGGC/TTGAGG 1 -- us2k10--------
    rs1143658721,2
    C,F--462673(+) TGAATC/GCAGGA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1428611501,2
    C--462758(+) AACCA-/AAAC  
            
    AAACA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KANK1 (470291 - 720291 bp, first 250kb of KANK1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KANK1 (see all 114):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2598675CNV Deletion19546169
    esv2421414CNV Deletion20811451
    esv2169213CNV Deletion18987734
    nsv820823CNV Deletion20802225
    esv2446874CNV Deletion19546169
    esv993787CNV Deletion20482838
    esv1583205CNV Deletion17803354
    esv2677368CNV Deletion23128226
    dgv1302e201CNV Deletion23290073
    esv2738101CNV Deletion23290073

    Human Gene Mutation Database (HGMD): KANK1
    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 607704   
    OMIM disorders: 612900  
    UniProtKB/Swiss-Prot: KANK1_HUMAN, Q14678
  • Cerebral palsy, spastic quadriplegic 2 (CPSQ2) [MIM:612900]: A non-progressive disorder of movement
    and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest
    congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus
    and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for KANK1 (see all 24):    
    About MalaCards
    cerebral palsy, spastic quadriplegic, 2    familial congenital fourth cranial nerve palsy    cerebral palsy    fourth cranial nerve palsy
    cerebral palsy, spastic quadriplegic, 1    renal cell carcinoma    congenital fibrosis of the extraocular muscles    metanephric adenoma
    cranial nerve palsy    quadriplegia    spastic quadriplegia    cerebritis
    spasticity    hypotonia    choroiditis    adenoma
    mental retardation    multiple sclerosis    asthma    lung cancer

    1 disease from the University of Copenhagen DISEASES database for KANK1:
    Metanephric adenoma

    KANK1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KANK1
    Human Genome Epidemiology (HuGE) Navigator: KANK1 (4 documents)

    Export disorders for KANK1 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 KANK1 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with KANK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. (PubMed id 12133830)1, 2, 3, 9 Sarkar S.... Kiyama R. (J. Biol. Chem. 2002)
    2. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. (PubMed id 19171758)1, 2, 9 Roy B.C.... Kiyama R. (J. Cell Biol. 2009)
    3. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
    4. Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing. (PubMed id 22084092)1, 2 Li C.C.... Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    5. 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)
    6. Kank proteins: structure, functions and diseases. (PubMed id 19554261)1, 3 Kakinuma N....Kiyama R. (Cell. Mol. Life Sci. 2009)
    7. Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. (PubMed id 19834503)1, 4 Hoppenbrouwers I.A....Hintzen R.Q. (J. Hum. Genet. 2009)
    8. A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. (PubMed id 19559006)1, 2 Kakinuma N. and Kiyama R. (Biochem. Biophys. Res. Commun. 2009)
    9. Risk alleles for multiple sclerosis in multiplex families. (PubMed id 19506219)1, 4 D'Netto M.J....Ebers G.C. (Neurology 2009)
    10. Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3K-Akt signaling. (PubMed id 18458160)1, 2 Kakinuma N.... Kiyama R. (J. Cell Biol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23189 HGNC: 19309 AceView: ANKRD15 Ensembl:ENSG00000107104 euGenes: HUgn23189
    ECgene: KANK1 H-InvDB: KANK1

    (According to HUGE)
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    HUGE: KIAA0172

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KANK1 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 KANK1 gene:
    Search GeneIP for patents involving KANK1

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



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