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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 Mitotic Metaphase and Anaphase and Signaling by GPCR. 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).

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

Regulatory Elements for SKA1 Gene

Enhancers for SKA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G050267 1.4 FANTOM5 ENCODE dbSUPER 10.6 -106.8 -106756 1.9 HDGF CTCF KLF1 TBL1XR1 BACH1 SIN3A RBBP5 ZIC2 RAD21 ZFHX2 SKA1 CFAP53 MBD1
GH18G050395 0.8 ENCODE 17.6 +21.3 21258 0.9 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT TCF12 GATA2 CREM CEBPB ZEB2 SKA1 PIR36652
GH18G050404 1.1 ENCODE 11.1 +30.0 29997 0.8 FOXA2 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 SKA1 PIR36652 RPLP0P11
GH18G050265 1 ENCODE 10.6 -108.5 -108519 1.6 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 ELK1 ZNF143 PAF1 SP3 SKA1 CFAP53 ENSG00000277310
GH18G050315 0.8 ENCODE 10.9 -59.6 -59561 0.8 HDGF PKNOX1 ATF1 TBL1XR1 BMI1 RAD21 ZNF143 ETV6 RELB IKZF2 CXXC1 MBD1 SKA1 ENSG00000274930 ENSG00000267695
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SKA1 on UCSC Golden Path with GeneCards custom track

Promoters for SKA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000103306 105 1401 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 DEK ZNF263 SP3 SP5

Genomic Location for SKA1 Gene

Chromosome:
18
Start:
50,374,995 bp from pter
End:
50,394,173 bp from pter
Size:
19,179 bases
Orientation:
Plus strand

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

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

No data available for Gene Families for SKA1 Gene

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).

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 IDA,IEA 19289083
genes like me logo Genes that share ontologies with SKA1: view
genes like me logo Genes that share phenotypes with SKA1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Gene Ontology (GO) - Cellular Components for SKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000940 condensed chromosome outer kinetochore IDA 17093495
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm 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:0007067 mitotic nuclear division IMP --
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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia SKA1 34 35
  • 89.99 (n)
dog
(Canis familiaris)
Mammalia SKA1 34 35
  • 85.1 (n)
rat
(Rattus norvegicus)
Mammalia Ska1 34
  • 82.21 (n)
mouse
(Mus musculus)
Mammalia Ska1 34 16 35
  • 80.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SKA1 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SKA1 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SKA1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ska1 34
  • 59.23 (n)
zebrafish
(Danio rerio)
Actinopterygii ska1 34 35
  • 53.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000159726 -- 50,376,177(+) TGAGA(A/T)TTGAA intron-variant, upstream-variant-2KB
rs1000680377 -- 50,375,805(+) GTTTA(C/T)GTTTT intron-variant, upstream-variant-2KB
rs1000906304 -- 50,374,778(+) GGTGA(C/T)TCTAA nc-transcript-variant, upstream-variant-2KB
rs1001739256 -- 50,375,341(+) CTCAC(C/G)GGCGG intron-variant, upstream-variant-2KB
rs1001773446 -- 50,375,090(+) ATTTT(C/G)CTTAC upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for SKA1 Gene

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

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

Disorders for SKA1 Gene

Relevant External Links for SKA1

Genetic Association Database (GAD)
SKA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 E.A. (EMBO J. 2006) 2 3 4 64
  2. The kinetochore-bound Ska1 complex tracks depolymerizing microtubules and binds to curved protofilaments. (PMID: 23085020) Schmidt J.C. … Cheeseman I.M. (Dev. Cell 2012) 3 4 64
  3. The human kinetochore Ska1 complex facilitates microtubule depolymerization-coupled motility. (PMID: 19289083) Welburn J.P.I. … Cheeseman I.M. (Dev. Cell 2009) 3 4 64
  4. Proteome analysis of the human mitotic spindle. (PMID: 15561729) Sauer G. … Sillje H.H.W. (Mol. Cell. Proteomics 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SKA1 Gene

  • Addgene plasmids for SKA1

Sources for SKA1 Gene

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