Aliases for KNSTRN Gene

Aliases for KNSTRN Gene

  • Kinetochore Localized Astrin (SPAG5) Binding Protein 2 3 5
  • Kinetochore-Localized Astrin-Binding Protein 2 3 4
  • Small Kinetochore-Associated Protein 2 3 4
  • Kinastrin 2 3 4
  • TRAF4AF1 2 3 4
  • SKAP 2 3 4
  • TRAF4 Associated Factor 1 2 3
  • C15orf23 3 4
  • Small Kinetochore-Associated Protein, Kinetochore-Localized Astrin-Binding Protein, TRAF4 Associated Factor 1 3
  • Kinetochore Localized Astrin/SPAG5 Binding Protein 2
  • Kinetochore-Localized Astrin/SPAG5-Binding Protein 4
  • Small Kinetochore Associated Protein 3
  • Chromosome 15 Open Reading Frame 23 2
  • Putative TRAF4-Associated Factor 1 3
  • TRAF4-Associated Factor 1 4
  • FLJ14502 2
  • KNSTRN 5
  • HSD11 3

External Ids for KNSTRN Gene

Previous HGNC Symbols for KNSTRN Gene

  • C15orf23

Previous GeneCards Identifiers for KNSTRN Gene

  • GC15P040675

Summaries for KNSTRN Gene

GeneCards Summary for KNSTRN Gene

KNSTRN (Kinetochore Localized Astrin (SPAG5) Binding Protein) is a Protein Coding gene. Diseases associated with KNSTRN include Roifman-Chitayat Syndrome and Skin Squamous Cell Carcinoma.

UniProtKB/Swiss-Prot Summary for KNSTRN Gene

  • Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences (PubMed:24718257).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KNSTRN Gene

Genomics for KNSTRN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KNSTRN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KNSTRN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KNSTRN

Genomic Locations for KNSTRN Gene

Latest Assembly
chr15:40,382,721-40,394,288
(GRCh38/hg38)
Size:
11,568 bases
Orientation:
Plus strand

Previous Assembly
chr15:40,674,922-40,686,489
(GRCh37/hg19 by Entrez Gene)
Size:
11,568 bases
Orientation:
Plus strand

chr15:40,674,922-40,686,447
(GRCh37/hg19 by Ensembl)
Size:
11,526 bases
Orientation:
Plus strand

Genomic View for KNSTRN Gene

Genes around KNSTRN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KNSTRN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KNSTRN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KNSTRN Gene

Proteins for KNSTRN Gene

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

    Protein Symbol:
    Q9Y448-SKAP_HUMAN
    Recommended name:
    Small kinetochore-associated protein
    Protein Accession:
    Q9Y448
    Secondary Accessions:
    • B4DXA7
    • Q147U5
    • Q32Q57
    • Q5ISJ0
    • Q6P2S5
    • Q6PJM0
    • Q86XB4

    Protein attributes for KNSTRN Gene

    Size:
    316 amino acids
    Molecular mass:
    35438 Da
    Quaternary structure:
    • Part of an astrin (SPAG5)-kinastrin (SKAP) complex containing KNSTRN, SPAG5, PLK1, DYNLL1 and SGO2. Interacts with SPAG5. Directly binds to microtubules, although at relatively low affinity. Interacts with CENPE; this interaction greatly favors microtubule-binding. Interacts with DSN1/MIS13; leading to localization to kinetochores. Interacts with MAPRE1/EB1; leading to localization to the microtubule plus ends. Interacts with PRPF19.
    SequenceCaution:
    • Sequence=AAH04543.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAH14060.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAI07803.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for KNSTRN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KNSTRN Gene

Post-translational modifications for KNSTRN Gene

  • Glycosylation at Asn56
  • Ubiquitination at Lys212
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for KNSTRN Gene

Domains & Families for KNSTRN Gene

Gene Families for KNSTRN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KNSTRN Gene

InterPro:

Suggested Antigen Peptide Sequences for KNSTRN Gene

GenScript: Design optimal peptide antigens:
  • Putative TRAF4-associated factor 1 (T4AF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y448

UniProtKB/Swiss-Prot:

SKAP_HUMAN :
  • The coiled coil regions mediate binding to kinetochores.
Domain:
  • The coiled coil regions mediate binding to kinetochores.
genes like me logo Genes that share domains with KNSTRN: view

Function for KNSTRN Gene

Molecular function for KNSTRN Gene

UniProtKB/Swiss-Prot Function:
Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences (PubMed:24718257).
UniProtKB/Swiss-Prot Induction:
Degraded at the end of mitosis. Down-regulated upon exposure to nitric oxide.

Phenotypes From GWAS Catalog for KNSTRN Gene

Gene Ontology (GO) - Molecular Function for KNSTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21402792
GO:0042803 protein homodimerization activity IPI 26242911
GO:0051010 microtubule plus-end binding IDA 26242911
genes like me logo Genes that share ontologies with KNSTRN: view
genes like me logo Genes that share phenotypes with KNSTRN: view

Human Phenotype Ontology for KNSTRN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KNSTRN Gene

MGI Knock Outs for KNSTRN:
  • Knstrn Knstrn<tm1d(KOMP)Wtsi>
  • Knstrn Knstrn<tm1b(KOMP)Wtsi>

miRNA for KNSTRN Gene

miRTarBase miRNAs that target KNSTRN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KNSTRN

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KNSTRN Gene

Localization for KNSTRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KNSTRN Gene

Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole. Note=Colocalizes with microtubules around centrosomes in prophase and with the mitotic spindle at prometaphase and metaphase. From late prometaphase to anaphase, is highly concentrated on kinetochores. Located at the kinetochore-microtubule interface. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends (PubMed:23035123). {ECO:0000269 PubMed:19667759, ECO:0000269 PubMed:21402792, ECO:0000269 PubMed:22110139, ECO:0000269 PubMed:23035123}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KNSTRN gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 4
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (4)
  • Mitotic spindle (4)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KNSTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA,IDA 21402792
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA --
GO:0001726 ruffle IDA 26242911
genes like me logo Genes that share ontologies with KNSTRN: view

Pathways & Interactions for KNSTRN Gene

PathCards logo

SuperPathways for KNSTRN Gene

No Data Available

SIGNOR curated interactions for KNSTRN Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KNSTRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IBA,IMP 21402792
GO:0000226 microtubule cytoskeleton organization IMP 26242911
GO:0007049 cell cycle IEA --
GO:0007051 spindle organization IEA,IMP 21402792
GO:0007059 chromosome segregation IEA,IMP 21402792
genes like me logo Genes that share ontologies with KNSTRN: view

No data available for Pathways by source for KNSTRN Gene

Drugs & Compounds for KNSTRN Gene

No Compound Related Data Available

Transcripts for KNSTRN Gene

mRNA/cDNA for KNSTRN Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KNSTRN

Clone products for research

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ·
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - -
SP7: - -
SP8: - - - -
SP9: -
SP10:
SP11:

ExUns: 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for KNSTRN Gene

GeneLoc Exon Structure for
KNSTRN

Expression for KNSTRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KNSTRN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KNSTRN Gene

This gene is overexpressed in Thyroid (x6.9) and Testis (x6.0).

Protein differential expression in normal tissues from HIPED for KNSTRN Gene

This gene is overexpressed in Liver, secretome (38.5) and Lung (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KNSTRN Gene



Protein tissue co-expression partners for KNSTRN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KNSTRN

SOURCE GeneReport for Unigene cluster for KNSTRN Gene:

Hs.525796

mRNA Expression by UniProt/SwissProt for KNSTRN Gene:

Q9Y448-SKAP_HUMAN
Tissue specificity: Widely expressed, including in skin.

Evidence on tissue expression from TISSUES for KNSTRN Gene

  • Kidney(4.4)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with KNSTRN: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KNSTRN Gene

Orthologs for KNSTRN Gene

This gene was present in the common ancestor of chordates.

Orthologs for KNSTRN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C15H15orf23 29 30
  • 99.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KNSTRN 29 30
  • 84.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C10H15orf23 29
  • 84.11 (n)
C10H15ORF23 30
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Knstrn 29 16 30
  • 76.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Knstrn 29
  • 76.21 (n)
Oppossum
(Monodelphis domestica)
Mammalia KNSTRN 30
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C15ORF23 30
  • 31 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KNSTRN 30
  • 27 (a)
OneToOne
Species where no ortholog for KNSTRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KNSTRN Gene

ENSEMBL:
Gene Tree for KNSTRN (if available)
TreeFam:
Gene Tree for KNSTRN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KNSTRN: view image
Alliance of Genome Resources:
Additional Orthologs for KNSTRN

Paralogs for KNSTRN Gene

(7) SIMAP similar genes for KNSTRN Gene using alignment to 9 proteins:

  • SKAP_HUMAN
  • H0YKD4_HUMAN
  • H0YKF8_HUMAN
  • H0YLA7_HUMAN
  • H0YLH8_HUMAN
  • H0YM11_HUMAN
  • H0YN50_HUMAN
  • H0YNN6_HUMAN
  • V9GY01_HUMAN
genes like me logo Genes that share paralogs with KNSTRN: view

No data available for Paralogs for KNSTRN Gene

Variants for KNSTRN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KNSTRN Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs139286584 Benign: not provided 40,393,596(+) A/C
NM_033286.3(KNSTRN):c.950A>C (p.Ter317Ser)
STOP_LOST,THREE_PRIME_UTR
rs868438023 Likely Pathogenic: Squamous cell carcinoma of the skin; Malignant melanoma of skin 40,382,906(+) C/Tp.Ser24Phe
NM_033286.3(KNSTRN):c.71C>T (p.Ser24Phe)
MISSENSE
rs7164132 -- p.Ala40Glu
rs7169262 -- p.Pro92Ser
rs7169404 -- p.Arg75Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KNSTRN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv34145 CNV loss 18971310
nsv510660 CNV deletion 20534489

Variation tolerance for KNSTRN Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.32; 70.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KNSTRN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KNSTRN
Leiden Open Variation Database (LOVD)
KNSTRN

SNP Genotyping and Copy Number Assays for research

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

Disorders for KNSTRN Gene

MalaCards: The human disease database

(4) MalaCards diseases for KNSTRN Gene - From: CVR, ORP, and COP

Disorder Aliases PubMed IDs
roifman-chitayat syndrome
  • combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay
skin squamous cell carcinoma
  • epidermoid skin carcinoma
skin melanoma
  • cutaneous melanoma
skin sarcoma
  • cutaneous sarcoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SKAP_HUMAN
  • Note=Cutaneous squamous cell carcinomas (SCC): A malignancy of the skin. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Disease susceptibility is associated with variants affecting the gene represented in this entry. Variant Phe-24 appears specific for UV-associated malignancies (PubMed:25194279). {ECO:0000269 PubMed:25194279}.

Additional Disease Information for KNSTRN

genes like me logo Genes that share disorders with KNSTRN: view

No data available for Genatlas for KNSTRN Gene

Publications for KNSTRN Gene

  1. Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma. (PMID: 25194279) Lee CS … Khavari PA (Nature genetics 2014) 2 3 4
  2. Small kinetochore associated protein (SKAP) promotes UV-induced cell apoptosis through negatively regulating pre-mRNA processing factor 19 (Prp19). (PMID: 24718257) Lu S … Song W (PloS one 2014) 3 4
  3. CENP-E kinesin interacts with SKAP protein to orchestrate accurate chromosome segregation in mitosis. (PMID: 22110139) Huang Y … Yao X (The Journal of biological chemistry 2012) 3 4
  4. Mitotic regulator SKAP forms a link between kinetochore core complex KMN and dynamic spindle microtubules. (PMID: 23035123) Wang X … Yao X (The Journal of biological chemistry 2012) 3 4
  5. The astrin-kinastrin/SKAP complex localizes to microtubule plus ends and facilitates chromosome alignment. (PMID: 21402792) Dunsch AK … Gruneberg U (The Journal of cell biology 2011) 3 4

Products for KNSTRN Gene

Sources for KNSTRN Gene