Human Gene KANK1 (uc003zgn.2) Description and Page Index
  Description: Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.
RefSeq Summary (NM_015158): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL833161.1, AK292989.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr9:504,695-746,106 Size: 241,412 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr9:676,973-745,235 Size: 68,263 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr9:504,695-746,106)mRNA (may differ from genome)Protein (1352 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=KN motif and ankyrin repeat domain-containing protein 1; AltName: Full=Ankyrin repeat domain-containing protein 15; AltName: Full=Kidney ankyrin repeat-containing protein;
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.
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.
INTERACTION: Q9UQB8:BAIAP2; NbExp=6; IntAct=EBI-2556221, EBI-525456; Q9UQB8-4:BAIAP2; NbExp=4; IntAct=EBI-6173812, EBI-6174091; P35222:CTNNB1; NbExp=2; IntAct=EBI-2556221, EBI-491549; Q7Z4S6:KIF21A; NbExp=3; IntAct=EBI-6173812, EBI-2691397; P62258:YWHAE; NbExp=3; IntAct=EBI-6173812, EBI-356498; P61981:YWHAG; NbExp=3; IntAct=EBI-6173812, EBI-359832; Q04917:YWHAH; NbExp=3; IntAct=EBI-6173812, EBI-306940; P27348:YWHAQ; NbExp=2; IntAct=EBI-2556221, EBI-359854;
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.
TISSUE SPECIFICITY: Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably is widely expressed at basic levels.
DISEASE: 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.
SIMILARITY: Contains 5 ANK repeats.
SEQUENCE CAUTION: Sequence=BAA11489.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KANK1
CDC HuGE Published Literature: KANK1
Positive Disease Associations: Asthma
Related Studies:
  1. Asthma
    Medea Imboden et al. The Journal of allergy and clinical immunology 2012, Genome-wide association study of lung function decline in adults with and without asthma., The Journal of allergy and clinical immunology. [PubMed 22424883]
    Genetic heterogeneity of lung function might be extensive. Our results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status.

-  MalaCards Disease Associations
  MalaCards Gene Search: KANK1
Diseases sorted by gene-association score: cerebral palsy, spastic quadriplegic, 2* (1019), inherited congenital spastic tetraplegia* (350), cerebral palsy (31), metanephric adenoma (14), brain glioma (12), quadriplegia (12), renal adenoma (8), kidney angiomyolipoma (7), renal cell carcinoma (6), tukel syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.08 RPKM in Artery - Aorta
Total median expression: 582.95 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.50143-0.353 Picture PostScript Text
3' UTR -222.41871-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR021939 - KN_motif

Pfam Domains:
PF00023 - Ankyrin repeat
PF12075 - KN motif
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q14678
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008013 beta-catenin binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0010977 negative regulation of neuron projection development
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030336 negative regulation of cell migration
GO:0030837 negative regulation of actin filament polymerization
GO:0035024 negative regulation of Rho protein signal transduction
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0090303 positive regulation of wound healing
GO:1900025 negative regulation of substrate adhesion-dependent cell spreading
GO:1900028 negative regulation of ruffle assembly
GO:2000114 regulation of establishment of cell polarity
GO:2000393 negative regulation of lamellipodium morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032587 ruffle membrane
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  BC037495 - Homo sapiens KN motif and ankyrin repeat domains 1, mRNA (cDNA clone MGC:43307 IMAGE:5265517), complete cds.
BX648931 - Homo sapiens mRNA; cDNA DKFZp686G183 (from clone DKFZp686G183).
AL832454 - Homo sapiens mRNA; cDNA DKFZp451G231 (from clone DKFZp451G231).
AK292989 - Homo sapiens cDNA FLJ78754 complete cds, highly similar to Homo sapiens ankyrin repeat domain 15 (ANKRD15), transcript variant 1, mRNA.
AL833161 - Homo sapiens mRNA; cDNA DKFZp686K0111 (from clone DKFZp686K0111).
AK290028 - Homo sapiens cDNA FLJ77272 complete cds, highly similar to Homo sapiens ankyrin repeat domain 15 (ANKRD15), transcript variant1, mRNA.
AB205106 - Homo sapiens mRNA for Kank protein isoform-L, partial cds.
AB205108 - Homo sapiens mRNA for Kank protein isoform-L, partial cds.
AB205109 - Homo sapiens mRNA for Kank protein isoform-L, partial cds.
D79994 - Homo sapiens KIAA0172 mRNA, complete cds.
AB205107 - Homo sapiens mRNA for Kank protein isoform-L, partial cds.
AB205110 - Homo sapiens mRNA for Kank protein isoform-L, partial cds.
JD109916 - Sequence 90940 from Patent EP1572962.
JD174201 - Sequence 155225 from Patent EP1572962.
KJ898455 - Synthetic construct Homo sapiens clone ccsbBroadEn_07849 KANK1 gene, encodes complete protein.
AB383782 - Synthetic construct DNA, clone: pF1KSDA0172, Homo sapiens ANKRD15 gene for ankyrin repeat domain-containing protein 15, complete cds, without stop codon, in Flexi system.
AK311119 - Homo sapiens cDNA, FLJ18161.
AB205111 - Homo sapiens mRNA for Kank protein isoform-S, exon a, exon 1.
AB205112 - Homo sapiens mRNA for Kank protein isoform-S, exon b, exon 1.
AB205113 - Homo sapiens mRNA for Kank protein isoform-S, exon c, exon 1.
BC038116 - Homo sapiens KN motif and ankyrin repeat domains 1, mRNA (cDNA clone MGC:43128 IMAGE:5261060), complete cds.
JD204721 - Sequence 185745 from Patent EP1572962.
JD062698 - Sequence 43722 from Patent EP1572962.
AK026421 - Homo sapiens cDNA: FLJ22768 fis, clone KAIA1306.
JD051699 - Sequence 32723 from Patent EP1572962.
JD123044 - Sequence 104068 from Patent EP1572962.
JD412186 - Sequence 393210 from Patent EP1572962.
JD131564 - Sequence 112588 from Patent EP1572962.
JD371814 - Sequence 352838 from Patent EP1572962.
BC020040 - Homo sapiens KN motif and ankyrin repeat domains 1, mRNA (cDNA clone IMAGE:3923996), partial cds.
AK025428 - Homo sapiens cDNA: FLJ21775 fis, clone HEP00129.
AL833015 - Homo sapiens mRNA; cDNA DKFZp666N084 (from clone DKFZp666N084).
AK025636 - Homo sapiens cDNA: FLJ21983 fis, clone HEP06219.
JD553664 - Sequence 534688 from Patent EP1572962.
JD421231 - Sequence 402255 from Patent EP1572962.
JD335502 - Sequence 316526 from Patent EP1572962.
JD375713 - Sequence 356737 from Patent EP1572962.
JD141953 - Sequence 122977 from Patent EP1572962.
JD473458 - Sequence 454482 from Patent EP1572962.
JD280266 - Sequence 261290 from Patent EP1572962.
JD279618 - Sequence 260642 from Patent EP1572962.
JD047004 - Sequence 28028 from Patent EP1572962.
JD148617 - Sequence 129641 from Patent EP1572962.
JD566069 - Sequence 547093 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2A2W8, ANKRD15, D3DRH3, KANK, KANK1_HUMAN, KIAA0172, NM_015158, NP_694856, Q14678, Q5W0W0, Q8IY65, Q8WX74, uc003zgn.1
UCSC ID: uc003zgn.2
RefSeq Accession: NM_015158
Protein: Q14678 (aka KANK1_HUMAN)
CCDS: CCDS34976.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015158.3
exon count: 12CDS single in 3' UTR: no RNA size: 5090
ORF size: 4059CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 8279.00frame shift in genome: no % Coverage: 99.67
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.