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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KANK1 Gene

protein-coding   GIFtS: 54
GCID: GC09P000461

KN motif and ankyrin repeat domains 1

(Previous name: ankyrin repeat domain 15 )
(Previous symbol: ANKRD15)
 Explore 17 diseases affiliated with
KANK1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KANK1    

Aliases
for KANK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
KN Motif And Ankyrin Repeat Domains 11 2     Kidney Ankyrin Repeat-Containing Protein2 3
ANKRD151 2 3 5     Ankyrin Repeat Domain 151
KANK1 2 3 5     CPSQ22
KIAA01721 3 5     KN Motif And Ankyrin Repeat Domain-Containing Protein 12
Ankyrin Repeat Domain-Containing Protein 152 3     

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

Export aliases for KANK1 gene to outside databases


Summaries
for KANK1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KANK1:
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)

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)


Genomic Views
for KANK1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KANK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC09P000461:  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

Proteins
for KANK1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cell projection, ruffle membrane. Note=Colocalizes with KIF21A in membrane ruffles
Subcellular location: Isoform 1: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus
Subcellular location: Isoform 2: Cytoplasm. Nucleus. Cell projection, ruffle membrane. Note=Shuttles between the
cytoplasm and nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14678

    • KANK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000371740   ENSP00000346479   ENSP00000371734   ENSP00000371730   ENSP00000371726  
     ENSP00000371723  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 2): KANK1
    OriGene Custom Protein Services for KANK1 
    GenScript Custom Purified and Recombinant Proteins Services for KANK1
    Novus Biologicals KANK1 Protein
    Novus Biologicals KANK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KANK1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    KANK1 for ontologies           About GeneDecksing



    KANK1 Antibody Products: 
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    Uscn Antibodies for KANK1
    Search ThermoFisher Antibodies for KANK1

    Assay Products for KANK1: 
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    Browse OriGene Fluorogenic Cell Assay Kits
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    Uscn ELISAs and CLIAs for KANK1

    Protein Domains /
    Families
    for KANK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KANK1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB002110 Ankyrin repeat signature

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


    Function
    for KANK1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		miRTarBase miRNAs that target KANK1:
    hsa-mir-124 (MIRT004930)

    OriGene 3'-UTR Clone (see all 2): KANK1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KANK1
    8/28 QIAGEN miScript miRNA 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 plasmid: KANK1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KANK1 (see all 4)
    OriGene shRNA RFP: KANK1
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KANK1 (see all 4)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KANK1 

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    Search LifeMap BioReagents cell lines for KANK1

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

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19559006
    GO:0008013beta-catenin binding IDA16968744


    KANK1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for KANK1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KANK1

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

    5/12 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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

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


    KANK1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KANK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KANK1
    Search CenterWatch for drugs/clinical trials and news about KANK1 

    Transcripts
    for KANK1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KANK1
    8/28 QIAGEN miScript miRNA 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 plasmid: KANK1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KANK1 (see all 4)
    OriGene shRNA RFP: KANK1
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KANK1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KANK1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KANK1 (see all 2)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KANK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KANK1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KANK1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KANK1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KANK1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KANK1

    Additional cDNA 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 

    23 DOTS entries:

    DT.446770  DT.97842681  DT.100027583  DT.102826417  DT.100780440  DT.95142104  DT.121171153  DT.100027580 
    DT.121170911  DT.438026  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 

    24/207 AceView cDNA sequences (see all 207):

    AW341277 AA677433 AI417958 AA887660 AL832454 BU626132 AI470967 BF196842 
    AI373524 BF510180 CD108152 AA470724 CB266666 AW079408 AA885708 BU959281 
    CA777772 AW591585 AA918565 BM672808 AA758141 BX402720 AI026915 CR594759 

    GeneLoc Exon Structure

    5/21 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

    Expression
    for KANK1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGAACTACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KANK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungTracheal CartilageChondrocytesLung
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    BoneEndochondral Facial BonesBone
    BoneThoracic RibBone
    BrainChoroid PlexusBrain
    BrainMedulla OblongataBrain
    HeartDorsal AortaHeart
    LimbAutopodLimb
    LimbStylopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

    See KANK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KANK1

    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
    for KANK1 gene

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

    Orthologs for KANK1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KANK11 KN motif and ankyrin repeat domains 1 70.68(n)
    71.34(a)    		   395475  XM_424927.3  XP_424927.3 
    lizard
    (Anolis carolinensis)    		 Reptilia KANK16
    		 --
    		 68(a)
    		 1 ↔ 1
    		 2(50269294-50288264)
    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 62.06(n)
    60.3(a)    		   777729  XM_002662070.2  XP_002662116.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG102496
    		 --
    		 17(a)
    		 1 → many
    		 2R(10788980-10815930)
    worm
    (Caenorhabditis elegans)    		 Secernentea vab-196
    		 Variable ABnormal morphology family member (vab-19...
    		 18(a)
    		 possible ortholog
    		 II(2443297-2451145)


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

    Paralogs
    for KANK1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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    KANK4    Kank3    IkBa
    PPP1R12A    Kank4    NRARP

    KANK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KANK1
    PGOHUM00000247435


    Genomic Variants
    for KANK1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7884 NCBI SNPs in KANK1 are shown (see all 7884)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs109746371,2
    		C,F,H,--420546(+) CTACTT/CGATGT 1 -- us2k123Minor allele frequency- C:0.09NS EA NA CSA WA 2768
    rs1122026781,2
    		--420883(+) CGAAGA/TTACTA 1 -- us2k12Minor allele frequency- T:0.04CSA WA 120
    rs1134583511,2
    		--420900(+) TCTGAG/ACTTCA 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs109746431,2
    		C,--420939(+) AAGTTC/TCTCCA 1 -- us2k15Minor allele frequency- T:0.09NA WA 244
    rs109746441,2
    		C,F,H,--421106(+) CAACGT/GTAATC 1 -- us2k126Minor allele frequency- G:0.07NS EA NA WA 3070
    rs132905741,2
    		C--421467(+) CGCCTG/AAAAAC 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs595853911,2
    		C,F,--421652(+) TTTCCC/GCGTTA 1 -- us2k13Minor allele frequency- G:0.29WA CSA 122
    rs1154815011,2
    		C,F,--421798(+) CCGTGC/AATGTC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1154418291,2
    		C,F,--422090(+) AAGCGG/AGCGTG 1 -- ut511Minor allele frequency- A:0.05WA 118
    rs46378991,2
    		F,--422391(+) CCCTGC/TCACAA 1 -- ut51 ese31Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for KANK1 (470291 - 720291 bp, first 250kb of KANK1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 79 variations for KANK1
         15/66 CNVs (see all 66): 82859 95792 3754 36957 95793 52842 52825 30310 53609 9102 37472 2781 1808 7746 100552
         13 Indels: 82863 13146 29173 70501 42077 100550 47720 95796 82864 95797 33465 13145 65305
    Human Gene Mutation Database (HGMD): KANK1

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    Disorders / Diseases
    for KANK1 gene

    (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.)
    About This Section
    KANK1 for disorders           About GeneDecksing

    OMIM gene information: 607704   
    OMIM disorders: 612900  
    UniProtKB/Swiss-Prot: KANK1_HUMAN, Q14678
  • Defects in KANK1 are the cause of cerebral palsy spastic quadriplegic type 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

    17 diseases for KANK1:    About MalaCards
    cerebral palsy    renal cell carcinoma    spasticity    cerebritis
    fibrosis of extraocular muscles    congenital fibrosis of the extraocular muscles    carcinoma    spastic quadriplegia
    metanephric adenoma    quadriplegia    nystagmus    multiple sclerosis
    fibrosis    hypotonia    adenoma    neuronitis
    lung cancer

    Human Genome Epidemiology (HuGE) Navigator: KANK1 (4 documents)

    Export disorders for KANK1 gene to outside databases

    Publications
    for KANK1 gene

    (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)
    About This Section

    PubMed articles for KANK1 gene, integrated from 9 sources (see all 35):
    (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. (2002)
    2. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. (PubMed id 19171758)1, 2, 9 Roy B.C....Kiyama R. (2009)
    3. Effects of brefeldin A-inhibited guanine nucleotide-e xchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration duri ng wound healing. (PubMed id 22084092)1, 2 Li C.C....Vaughan M. (2011)
    4. Kank proteins: structure, functions and diseases. (PubMed id 19554261)1, 3 Kakinuma N....Kiyama R. (2009)
    5. 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. (2009)
    6. 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. (2008)
    7. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. (PubMed id 17996375)1, 3 Zhu Y.... Kiyama R. (2008)
    8. Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin. (PubMed id 16968744)1, 2 Wang Y....Kiyama R. (2006)
    9. Alternative splicing of the human Kank gene produces two types of Kank protein. (PubMed id 15823577)1, 2 Wang Y.... Kiyama R. (2005)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)

    External Searches for KANK1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing KANK1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23189 HGNC: 19309 AceView: ANKRD15 Ensembl:ENSG00000107104 euGenes: HUgn23189
    ECgene: KANK1 H-InvDB: KANK1

    Other Databases showing KANK1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0172

    Specialized Databases showing KANK1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KANK1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KANK1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KANK1 gene:
    Search GeneIP for patents involving KANK1

    GeneCards and IP:
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