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Aliases for KANK1 Gene

Aliases for KANK1 Gene

  • KN Motif And Ankyrin Repeat Domains 1 2 3
  • ANKRD15 3 4 6
  • KANK 3 4 6
  • Ankyrin Repeat Domain-Containing Protein 15 3 4
  • Kidney Ankyrin Repeat-Containing Protein 3 4
  • KIAA0172 4 6
  • CPSQ2 3 6
  • KN Motif And Ankyrin Repeat Domain-Containing Protein 1 3
  • Ankyrin Repeat Domain 15 2

External Ids for KANK1 Gene

Previous HGNC Symbols for KANK1 Gene

  • ANKRD15

Previous GeneCards Identifiers for KANK1 Gene

  • GC09P000461

Summaries for KANK1 Gene

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 pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

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 inherited congenital spastic tetraplegia. GO annotations related to this gene include beta-catenin binding. An important paralog of this gene is KANK3.

UniProtKB/Swiss-Prot for KANK1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KANK1 Gene

Genomics for KANK1 Gene

Regulatory Elements for KANK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KANK1 Gene

Start:
470,291 bp from pter
End:
746,106 bp from pter
Size:
275,816 bases
Orientation:
Plus strand

Genomic View for KANK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANK1 Gene

Proteins for KANK1 Gene

  • Protein details for KANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14678-KANK1_HUMAN
    Recommended name:
    KN motif and ankyrin repeat domain-containing protein 1
    Protein Accession:
    Q14678
    Secondary Accessions:
    • A2A2W8
    • D3DRH3
    • Q5W0W0
    • Q8IY65
    • Q8WX74

    Protein attributes for KANK1 Gene

    Size:
    1352 amino acids
    Molecular mass:
    147289 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAA11489.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KANK1 Gene

Proteomics data for KANK1 Gene at MOPED

Post-translational modifications for KANK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KANK1 Gene

Domains for KANK1 Gene

Gene Families for KANK1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • KANK :KN motif and ankyrin repeat domain containing

Protein Domains for KANK1 Gene

Suggested Antigen Peptide Sequences for KANK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14678

UniProtKB/Swiss-Prot:

KANK1_HUMAN :
  • Q14678
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with KANK1: view

Function for KANK1 Gene

Molecular function for KANK1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for KANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16968744
GO:0008013 beta-catenin binding IDA 16968744
genes like me logo Genes that share ontologies with KANK1: view

Animal Model Products

CRISPR Products

miRNA for KANK1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KANK1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KANK1 Gene

Localization for KANK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANK1 Gene

Cell projection, ruffle membrane. Note=Colocalizes with KIF21A in membrane ruffles.
Isoform 1: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus.
Isoform 2: Cytoplasm. Nucleus. Cell projection, ruffle membrane. Note=Shuttles between the cytoplasm and nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KANK1 Gene COMPARTMENTS Subcellular localization image for KANK1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for KANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0032587 ruffle membrane IDA 19559006
genes like me logo Genes that share ontologies with KANK1: view

Pathways for KANK1 Gene

SuperPathways for KANK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010977 negative regulation of neuron projection development IDA 19171758
GO:0030177 positive regulation of Wnt signaling pathway IDA 16968744
GO:0030336 negative regulation of cell migration IMP 18458160
genes like me logo Genes that share ontologies with KANK1: view

No data available for Pathways by source for KANK1 Gene

Transcripts for KANK1 Gene

Unigene Clusters for KANK1 Gene

KN motif and ankyrin repeat domains 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KANK1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KANK1 Gene

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: - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - -
SP15: -
SP16: -
SP17:
SP18:
SP19:
SP20: -
SP21:

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:
SP6: -
SP7: -
SP8: -
SP9:
SP10: -
SP11: -
SP12: -
SP13: -
SP14: -
SP15: -
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for KANK1 Gene

GeneLoc Exon Structure for
KANK1
ECgene alternative splicing isoforms for
KANK1

Expression for KANK1 Gene

mRNA expression in normal human tissues for KANK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KANK1 Gene

SOURCE GeneReport for Unigene cluster for KANK1 Gene Hs.306764

mRNA Expression by UniProt/SwissProt for KANK1 Gene

Q14678-KANK1_HUMAN
Tissue specificity: Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably is widely expressed at basic levels.
genes like me logo Genes that share expressions with KANK1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for KANK1 Gene

Orthologs for KANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
ANKRD15 35
  • 99.1 (n)
  • 98.44 (a)
cow
(Bos Taurus)
Mammalia KANK1 35
  • 88.49 (n)
  • 89.25 (a)
KANK1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KANK1 35
  • 85.28 (n)
  • 86.17 (a)
KANK1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kank1 35
  • 84.55 (n)
  • 84.53 (a)
Kank1 16
Kank1 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KANK1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANK1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kank1 35
  • 84.56 (n)
  • 84.8 (a)
chicken
(Gallus gallus)
Aves KANK1 35
  • 70.61 (n)
  • 71.08 (a)
KANK1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KANK1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kank1 35
  • 64.28 (n)
  • 63.08 (a)
zebrafish
(Danio rerio)
Actinopterygii kank1 35
  • 61.81 (n)
  • 60.05 (a)
kank1 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10249 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-19 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.3164 36
  • 32 (a)
ManyToMany
Species with no ortholog for KANK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 KANK1 Gene

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

Paralogs for KANK1 Gene

Paralogs for KANK1 Gene

Selected SIMAP similar genes for KANK1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for KANK1 Gene

genes like me logo Genes that share paralogs with KANK1: view

Variants for KANK1 Gene

Sequence variations from dbSNP and Humsavar for KANK1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1333 -- 684,711(-) TGAAA(A/T)TATCC intron-variant, utr-variant-5-prime
rs10915 -- 745,996(+) ATTTA(C/T)GGATT utr-variant-3-prime
rs166801 -- 496,342(+) tgagg(C/T)cagga intron-variant
rs172163 -- 528,740(-) gaggc(A/C)gaggc intron-variant
rs188103 -- 542,598(-) agaag(C/T)acagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KANK1 Gene

Variant ID Type Subtype PubMed ID
nsv891954 CNV Loss 21882294
nsv466044 CNV Gain 19166990
esv2752307 CNV Gain 17911159
dgv7995n71 CNV Gain 21882294
nsv891976 CNV Gain 21882294
dgv7997n71 CNV Gain 21882294
nsv527958 CNV Loss 19592680
dgv7998n71 CNV Gain 21882294
nsv433253 CNV Loss 18776910
nsv6452 CNV Loss 18451855
esv2169213 CNV Deletion 18987734
esv2667217 CNV Deletion 23128226
nsv416596 CNV Loss 16902084
esv2453106 CNV Deletion 19546169
nsv891983 CNV Gain 21882294
nsv891984 CNV Loss 21882294
nsv499315 CNV Loss 21111241
dgv1316e199 CNV Deletion 23128226
esv27274 CNV Loss 19812545
nsv515144 CNV Complex 21397061
nsv8404 CNV Loss 18304495
nsv818669 CNV Loss 17921354
dgv34n14 CNV Loss 18776910
dgv910n27 CNV Loss 19166990
nsv818670 CNV Loss 17921354
esv2421734 CNV Deletion 20811451
nsv466051 CNV Loss 19166990
nsv517150 CNV Loss 19592680
nsv442534 CNV CNV 18776908
dgv7999n71 CNV Gain 21882294
dgv2268e1 CNV Complex 17122850
esv2738099 CNV Deletion 23290073
nsv471268 CNV Gain 18288195
esv33737 CNV Loss 17666407
esv2738100 CNV Deletion 23290073
esv4369 CNV Deletion 18987735
esv2664219 CNV Deletion 23128226
nsv528413 CNV Gain 19592680
nsv891988 CNV Loss 21882294
nsv891989 CNV Gain 21882294
dgv2269e1 CNV Complex 17122850
nsv523525 CNV Gain 19592680
dgv8000n71 CNV Loss 21882294
nsv528489 CNV Loss 19592680
nsv516951 CNV Loss 19592680
nsv469655 CNV Complex 16826518
esv2294479 CNV Deletion 18987734
esv1003494 CNV Insertion 20482838
esv2678316 CNV Deletion 23128226
nsv466052 CNV Loss 19166990
nsv515145 CNV Loss 21397061
esv2657341 CNV Deletion 23128226
esv26677 CNV Loss 19812545
esv2421414 CNV Deletion 20811451
dgv911n27 CNV Loss 19166990
nsv438086 CNV Loss 16468122
nsv471269 CNV Loss 18288195
nsv818671 CNV Loss 17921354
dgv2270e1 CNV Complex 17122850
essv15173 CNV CNV 17122850
dgv2271e1 CNV Complex 17122850
nsv442535 CNV CNV 18776908
esv34433 CNV Loss 17911159
dgv2272e1 CNV Complex 17122850
esv2662951 CNV Deletion 23128226
esv2673442 CNV Deletion 23128226
nsv8405 CNV Gain+Loss 18304495
dgv255e55 CNV Loss 17911159
esv26724 CNV Loss 19812545
nsv6453 CNV Loss 18451855
dgv8001n71 CNV Gain 21882294
nsv482979 CNV Loss 15286789
esv2738101 CNV Deletion 23290073
esv2669026 CNV Deletion 23128226
nsv466065 CNV Loss 19166990
esv2598675 CNV Deletion 19546169
esv2036921 CNV Deletion 18987734
esv24675 CNV Loss 19812545
nsv499181 CNV Loss 21111241
dgv1317e199 CNV Deletion 23128226
nsv515146 CNV Loss 21397061
nsv437637 CNV Loss 16327808
dgv8002n71 CNV Gain 21882294
esv994244 CNV Gain 20482838
nsv437638 CNV Loss 16327808
nsv438087 CNV Loss 16468122
nsv891999 CNV Loss 21882294
nsv892000 CNV Gain 21882294
nsv437639 CNV Loss 16327808
nsv892001 CNV Gain 21882294
nsv892002 CNV Gain 21882294
esv2677368 CNV Deletion 23128226
nsv512082 CNV Loss 21212237
esv2446874 CNV Deletion 19546169
dgv1299e201 CNV Deletion 23290073
dgv1300e201 CNV Deletion 23290073
esv2738107 CNV Deletion 23290073
esv29163 CNV Loss 19812545
nsv820823 CNV Deletion 20802225
dgv1301e201 CNV Deletion 23290073
dgv1302e201 CNV Deletion 23290073
dgv1303e201 CNV Deletion 23290073
esv2738114 CNV Deletion 23290073
esv2738121 CNV Deletion 23290073
esv1112743 CNV Deletion 17803354
nsv416517 CNV Loss 16902084
esv2738124 CNV Deletion 23290073
esv2738125 CNV Deletion 23290073
esv1583205 CNV Deletion 17803354
esv993787 CNV Deletion 20482838
esv2738126 CNV Deletion 23290073
esv2677395 CNV Deletion 23128226
nsv516314 CNV Loss 19592680
nsv529028 CNV Gain 19592680

Relevant External Links for KANK1 Gene

HapMap Linkage Disequilibrium report
KANK1
Human Gene Mutation Database (HGMD)
KANK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANK1 Gene

Disorders for KANK1 Gene

(1) OMIM Diseases for KANK1 Gene (607704)

UniProtKB/Swiss-Prot

KANK1_HUMAN
  • 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. {ECO:0000269 PubMed:16301218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for KANK1 Gene

Relevant External Links for KANK1

Genetic Association Database (GAD)
KANK1
Human Genome Epidemiology (HuGE) Navigator
KANK1
genes like me logo Genes that share disorders with KANK1: view

Publications for KANK1 Gene

  1. A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. (PMID: 12133830) Sarkar S. … Kiyama R. (J. Biol. Chem. 2002) 2 3 4 23
  2. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. (PMID: 19171758) Roy B.C. … Kiyama R. (J. Cell Biol. 2009) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T. … Nomura N. (DNA Res. 1996) 3 4
  4. Pathological characterization of Kank in renal cell carcinoma. (PMID: 15596059) Roy B.C. … Kiyama R. (Exp. Mol. Pathol. 2005) 3 23
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4

Products for KANK1 Gene

Sources for KANK1 Gene

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