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
ID:KANK1_HUMAN 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:
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q14678
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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.