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Aliases for SKA1 Gene

Aliases for SKA1 Gene

  • Spindle And Kinetochore Associated Complex Subunit 1 2 3 5
  • C18orf24 3 4
  • Spindle And Kinetochore-Associated Protein 1 3
  • Spindle And KT (Kinetochore) Associated 1 3
  • Chromosome 18 Open Reading Frame 24 2

External Ids for SKA1 Gene

Previous HGNC Symbols for SKA1 Gene

  • C18orf24

Previous GeneCards Identifiers for SKA1 Gene

  • GC18P046156
  • GC18P047902
  • GC18P044755

Summaries for SKA1 Gene

GeneCards Summary for SKA1 Gene

SKA1 (Spindle And Kinetochore Associated Complex Subunit 1) is a Protein Coding gene. Among its related pathways are Signaling by Rho GTPases and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot for SKA1 Gene

  • Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). In the complex, it mediates the interaction with microtubules (PubMed:19289083, PubMed:23085020).

Additional gene information for SKA1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SKA1 Gene

Genomics for SKA1 Gene

GeneHancer (GH) Regulatory Elements for SKA1 Gene

Promoters and enhancers for SKA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I050372 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.2 -0.6 -596 3.3 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 POLR2B SKA1 LOC105372114 MBD1 SMAD4 CXXC1 RNA5SP458
GH18I050265 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.7 -108.5 -108519 1.6 ARID4B SIN3A IRF4 ZNF48 YY1 ZNF121 GLIS2 ELK1 ZNF143 RUNX3 CFAP53 CXXC1 SKA1 ENSG00000277310 MBD1
GH18I050267 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -106.8 -106755 1.9 HDGF CTCF KLF1 BACH1 SIN3A EBF1 KLF5 IRF4 RAD21 POLR2A CFAP53 SKA1 MBD1
GH18I050395 Enhancer 0.8 ENCODE 17.6 +21.3 21257 0.9 HDAC1 PKNOX1 ATF1 ARNT TCF12 GATA2 CREM CEBPB NCOA1 ZEB2 SKA1 PIR36652
GH18I050404 Enhancer 0.8 ENCODE 11.1 +30.0 29996 0.8 ELF3 FOXA2 ARID4B RARA CREM THAP11 HMG20B SP5 NFIL3 MIER3 SKA1 PIR36652 RPLP0P11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SKA1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SKA1 Gene

Genomic Locations for SKA1 Gene
chr18:50,374,995-50,394,173
(GRCh38/hg38)
Size:
19,179 bases
Orientation:
Plus strand
chr18:47,901,365-47,920,543
(GRCh37/hg19)

Genomic View for SKA1 Gene

Genes around SKA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKA1 Gene

Proteins for SKA1 Gene

  • Protein details for SKA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BD8-SKA1_HUMAN
    Recommended name:
    Spindle and kinetochore-associated protein 1
    Protein Accession:
    Q96BD8
    Secondary Accessions:
    • B2R9Y6
    • B4E0P4

    Protein attributes for SKA1 Gene

    Size:
    255 amino acids
    Molecular mass:
    29484 Da
    Quaternary structure:
    • Component of the SKA1 complex, composed of SKA1, SKA2 and SKA3 (PubMed:17093495). Forms a heterodimer with SKA2; the heterodimer interacting with SKA3 (PubMed:17093495, PubMed:19289083, PubMed:23085020). The core SKA1 complex is composed of 2 SKA1-SKA2 heterodimers, each heterodimer interacting with a molecule of the SKA3 homodimer (PubMed:19289083). The core SKA1 complex associates with microtubules and forms oligomeric assemblies (PubMed:17093495, PubMed:19289083). Interacts with microtubules; the interaction is direct (PubMed:19289083, PubMed:23085020). Interacts with SKA2 (PubMed:19289083). Interacts with SKA3 (PubMed:19289083, PubMed:23085020).

    Three dimensional structures from OCA and Proteopedia for SKA1 Gene

    Alternative splice isoforms for SKA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SKA1 Gene

Post-translational modifications for SKA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SKA1 Gene

No data available for DME Specific Peptides for SKA1 Gene

Domains & Families for SKA1 Gene

Gene Families for SKA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SKA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SKA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BD8

UniProtKB/Swiss-Prot:

SKA1_HUMAN :
  • Belongs to the SKA1 family.
Family:
  • Belongs to the SKA1 family.
genes like me logo Genes that share domains with SKA1: view

Function for SKA1 Gene

Molecular function for SKA1 Gene

UniProtKB/Swiss-Prot Function:
Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). In the complex, it mediates the interaction with microtubules (PubMed:19289083, PubMed:23085020).

Phenotypes From GWAS Catalog for SKA1 Gene

Gene Ontology (GO) - Molecular Function for SKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008017 microtubule binding IEA,IDA 19289083
genes like me logo Genes that share ontologies with SKA1: view
genes like me logo Genes that share phenotypes with SKA1: view

Clone Products

  • Addgene plasmids for SKA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SKA1 Gene

Localization for SKA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKA1 Gene

Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner (PubMed:17093495). Localizes to both the mitotic spindle and kinetochore-associated proteins (PubMed:17093495). Associates with kinetochores following microtubule attachment from prometaphase, through mid-anaphase and then vanishes in telophase (PubMed:17093495). {ECO:0000269 PubMed:17093495}.

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 SKA1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
peroxisome 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000940 condensed chromosome outer kinetochore IDA 17093495
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SKA1: view

Pathways & Interactions for SKA1 Gene

genes like me logo Genes that share pathways with SKA1: view

Pathways by source for SKA1 Gene

Gene Ontology (GO) - Biological Process for SKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 19289083
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA,IMP 19289083
GO:0007062 sister chromatid cohesion TAS --
GO:0031110 regulation of microtubule polymerization or depolymerization IDA 19289083
genes like me logo Genes that share ontologies with SKA1: view

No data available for SIGNOR curated interactions for SKA1 Gene

Drugs & Compounds for SKA1 Gene

No Compound Related Data Available

Transcripts for SKA1 Gene

Unigene Clusters for SKA1 Gene

Spindle and kinetochore associated complex subunit 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for SKA1

Alternative Splicing Database (ASD) splice patterns (SP) for SKA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2:
SP3: -

Relevant External Links for SKA1 Gene

GeneLoc Exon Structure for
SKA1
ECgene alternative splicing isoforms for
SKA1

Expression for SKA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SKA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SKA1 Gene

This gene is overexpressed in Testis (x6.4).

Protein differential expression in normal tissues from HIPED for SKA1 Gene

This gene is overexpressed in Breast (45.0) and Fetal ovary (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SKA1 Gene



Protein tissue co-expression partners for SKA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SKA1 Gene:

SKA1

SOURCE GeneReport for Unigene cluster for SKA1 Gene:

Hs.134726
genes like me logo Genes that share expression patterns with SKA1: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SKA1 Gene

Orthologs for SKA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SKA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SKA1 33 34
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia SKA1 33 34
  • 89.99 (n)
dog
(Canis familiaris)
Mammalia SKA1 33 34
  • 85.1 (n)
rat
(Rattus norvegicus)
Mammalia Ska1 33
  • 82.21 (n)
mouse
(Mus musculus)
Mammalia Ska1 33 16 34
  • 80.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SKA1 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SKA1 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SKA1 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ska1 33
  • 59.23 (n)
zebrafish
(Danio rerio)
Actinopterygii ska1 33 34
  • 53.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToOne
Species where no ortholog for SKA1 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SKA1 Gene

ENSEMBL:
Gene Tree for SKA1 (if available)
TreeFam:
Gene Tree for SKA1 (if available)

Paralogs for SKA1 Gene

(3) SIMAP similar genes for SKA1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SKA1: view

No data available for Paralogs for SKA1 Gene

Variants for SKA1 Gene

Sequence variations from dbSNP and Humsavar for SKA1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000159726 -- 50,376,177(+) T/A intron_variant
rs1000680377 -- 50,375,805(+) T/C intron_variant
rs1000906304 -- 50,374,778(+) C/T upstream_transcript_variant
rs1001043932 -- 50,381,316(+) G/C intron_variant
rs1001285999 -- 50,387,316(+) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SKA1 Gene

Variant ID Type Subtype PubMed ID
esv2665570 CNV deletion 23128226
esv34028 CNV loss 18971310
esv988818 CNV gain 20482838
nsv1056927 CNV gain 25217958
nsv515672 CNV gain+loss 19592680
nsv522433 CNV gain 19592680
nsv576890 CNV gain 21841781

Variation tolerance for SKA1 Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SKA1 Gene

Human Gene Mutation Database (HGMD)
SKA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SKA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKA1 Gene

Disorders for SKA1 Gene

Additional Disease Information for SKA1

No disorders were found for SKA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SKA1 Gene

Publications for SKA1 Gene

  1. Timely anaphase onset requires a novel spindle and kinetochore complex comprising Ska1 and Ska2. (PMID: 17093495) Hanisch A … Nigg EA (The EMBO journal 2006) 2 3 4 58
  2. The kinetochore-bound Ska1 complex tracks depolymerizing microtubules and binds to curved protofilaments. (PMID: 23085020) Schmidt JC … Cheeseman IM (Developmental cell 2012) 3 4 58
  3. The human kinetochore Ska1 complex facilitates microtubule depolymerization-coupled motility. (PMID: 19289083) Welburn JP … Cheeseman IM (Developmental cell 2009) 3 4 58
  4. Proteome analysis of the human mitotic spindle. (PMID: 15561729) Sauer G … Silljé HH (Molecular & cellular proteomics : MCP 2005) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SKA1 Gene

  • Addgene plasmids for SKA1

Sources for SKA1 Gene

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