KNSTRN (kinetochore localized astrin (SPAG5) binding protein)

2015-02-01  

Identity

HGNC
LOCATION
15q15.1
LOCUSID
ALIAS
C15orf23,HSD11,ROCHIS,SKAP,TRAF4AF1
FUSION GENES

Other Information

Locus ID:

NCBI: 90417
MIM: 614718
HGNC: 30767
Ensembl: ENSG00000128944

Variants:

dbSNP: 90417
ClinVar: 90417
TCGA: ENSG00000128944
COSMIC: KNSTRN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128944ENST00000249776Q9Y448
ENSG00000128944ENST00000416151Q9Y448
ENSG00000128944ENST00000448395Q9Y448
ENSG00000128944ENST00000557920H0YM11
ENSG00000128944ENST00000559083H0YN50
ENSG00000128944ENST00000559304H0YKD4
ENSG00000128944ENST00000560220H0YNN6
ENSG00000128944ENST00000560321H0YLA7
ENSG00000128944ENST00000560981H0YLH8
ENSG00000128944ENST00000561169H0YKF8
ENSG00000128944ENST00000608100V9GY01

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
251942792014Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma.36
196677592009SKAP associates with kinetochores and promotes the metaphase-to-anaphase transition.27
221101392012CENP-E kinesin interacts with SKAP protein to orchestrate accurate chromosome segregation in mitosis.26
230351232012Mitotic regulator SKAP forms a link between kinetochore core complex KMN and dynamic spindle microtubules.21
287517102017Aurora-B kinase pathway controls the lateral to end-on conversion of kinetochore-microtubule attachments in human cells.16
262429112015Signaling Scaffold Protein IQGAP1 Interacts with Microtubule Plus-end Tracking Protein SKAP and Links Dynamic Microtubule Plus-end to Steer Cell Migration.10
270951042016Molecular requirements for the inter-subunit interaction and kinetochore recruitment of SKAP and Astrin.9
288411342017Astrin-SKAP complex reconstitution reveals its kinetochore interaction with microtubule-bound Ndc80.7
263488262015Mutations in the Kinetochore Gene KNSTRN in Basal Cell Carcinoma.4
247182572014Small kinetochore associated protein (SKAP) promotes UV-induced cell apoptosis through negatively regulating pre-mRNA processing factor 19 (Prp19).2

Citation

Dessen P

KNSTRN (kinetochore localized astrin (SPAG5) binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55018/knstrn