Human Gene SKA1 (ENST00000285116.8_4) from GENCODE V47lift37
  Description: spindle and kinetochore associated complex subunit 1, transcript variant 2 (from RefSeq NM_145060.4)
Gencode Transcript: ENST00000285116.8_4
Gencode Gene: ENSG00000154839.10_8
Transcript (Including UTRs)
   Position: hg19 chr18:47,901,416-47,920,538 Size: 19,123 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr18:47,902,201-47,918,617 Size: 16,417 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:47,901,416-47,920,538)mRNA (may differ from genome)Protein (255 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SKA1_HUMAN
DESCRIPTION: RecName: Full=Spindle and kinetochore-associated protein 1;
FUNCTION: Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it mediates the interaction with microtubules.
SUBUNIT: Component of the SKA1 complex, composed of SKA1, SKA2 and SKA3. Forms a heterodimer with SKA2; the heterodimer interacting with SKA3. The core SKA1 complex is composed of 2 SKA1-SKA2 heterodimers, each heterodimer interacting with a molecule of the SKA3 homodimer. The core SKA1 complex associates with microtubules and forms oligomeric assemblies. Interacts directly with microtubules, SKA2 and SKA3.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner. Localizes to both the mitotic spindle and kinetochore-associated proteins. Associates with kinetochores following microtubule attachment from prometaphase, through mid- anaphase and then vanishes in telophase.
SIMILARITY: Belongs to the SKA1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 22.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.70160-0.423 Picture PostScript Text
3' UTR -647.501921-0.337 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009829 - DUF1395

Pfam Domains:
PF07160 - Spindle and kinetochore-associated protein 1

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4AJ5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96BD8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0031110 regulation of microtubule polymerization or depolymerization
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000940 condensed chromosome outer kinetochore
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005876 spindle microtubule
GO:0015630 microtubule cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  JF432641 - Synthetic construct Homo sapiens clone IMAGE:100073878 chromosome 18 open reading frame 24 (C18orf24) gene, encodes complete protein.
KJ895848 - Synthetic construct Homo sapiens clone ccsbBroadEn_05242 SKA1 gene, encodes complete protein.
LF211093 - JP 2014500723-A/18596: Polycomb-Associated Non-Coding RNAs.
BC015706 - Homo sapiens chromosome 18 open reading frame 24, mRNA (cDNA clone MGC:10200 IMAGE:3909951), complete cds.
AK313968 - Homo sapiens cDNA, FLJ94615.
AK303464 - Homo sapiens cDNA FLJ52985 complete cds.
JD317044 - Sequence 298068 from Patent EP1572962.
JD369106 - Sequence 350130 from Patent EP1572962.
JD226639 - Sequence 207663 from Patent EP1572962.
JD143374 - Sequence 124398 from Patent EP1572962.
LF343962 - JP 2014500723-A/151465: Polycomb-Associated Non-Coding RNAs.
JD090794 - Sequence 71818 from Patent EP1572962.
JD219363 - Sequence 200387 from Patent EP1572962.
JD432788 - Sequence 413812 from Patent EP1572962.
JD202319 - Sequence 183343 from Patent EP1572962.
JD432793 - Sequence 413817 from Patent EP1572962.
JD295756 - Sequence 276780 from Patent EP1572962.
JD295757 - Sequence 276781 from Patent EP1572962.
JD546590 - Sequence 527614 from Patent EP1572962.
JD246635 - Sequence 227659 from Patent EP1572962.
JD541864 - Sequence 522888 from Patent EP1572962.
JD040550 - Sequence 21574 from Patent EP1572962.
JD052865 - Sequence 33889 from Patent EP1572962.
JD504438 - Sequence 485462 from Patent EP1572962.
JD504439 - Sequence 485463 from Patent EP1572962.
JD560126 - Sequence 541150 from Patent EP1572962.
JD090931 - Sequence 71955 from Patent EP1572962.
JD466797 - Sequence 447821 from Patent EP1572962.
JD444260 - Sequence 425284 from Patent EP1572962.
JD506082 - Sequence 487106 from Patent EP1572962.
JD213807 - Sequence 194831 from Patent EP1572962.
JD198832 - Sequence 179856 from Patent EP1572962.
JD154404 - Sequence 135428 from Patent EP1572962.
JD166666 - Sequence 147690 from Patent EP1572962.
JD296915 - Sequence 277939 from Patent EP1572962.
JD321206 - Sequence 302230 from Patent EP1572962.
BC005972 - Homo sapiens cDNA clone IMAGE:4094587.
JD326119 - Sequence 307143 from Patent EP1572962.
JD548600 - Sequence 529624 from Patent EP1572962.
JD261672 - Sequence 242696 from Patent EP1572962.
JD430403 - Sequence 411427 from Patent EP1572962.
JD557508 - Sequence 538532 from Patent EP1572962.
JD557507 - Sequence 538531 from Patent EP1572962.
JD529583 - Sequence 510607 from Patent EP1572962.
JD529582 - Sequence 510606 from Patent EP1572962.
JD169998 - Sequence 151022 from Patent EP1572962.
JD170000 - Sequence 151024 from Patent EP1572962.
JD169999 - Sequence 151023 from Patent EP1572962.
JD310834 - Sequence 291858 from Patent EP1572962.
BC015606 - Homo sapiens chromosome 18 open reading frame 24, mRNA (cDNA clone IMAGE:4761969), partial cds.
JD549665 - Sequence 530689 from Patent EP1572962.
JD492293 - Sequence 473317 from Patent EP1572962.
JD099851 - Sequence 80875 from Patent EP1572962.
JD360722 - Sequence 341746 from Patent EP1572962.
JD385818 - Sequence 366842 from Patent EP1572962.
JD511267 - Sequence 492291 from Patent EP1572962.
JD515471 - Sequence 496495 from Patent EP1572962.
JD183093 - Sequence 164117 from Patent EP1572962.
JD469235 - Sequence 450259 from Patent EP1572962.
JD170709 - Sequence 151733 from Patent EP1572962.
JD510779 - Sequence 491803 from Patent EP1572962.
JD170855 - Sequence 151879 from Patent EP1572962.
JD486319 - Sequence 467343 from Patent EP1572962.
JD295524 - Sequence 276548 from Patent EP1572962.
MA579539 - JP 2018138019-A/151465: Polycomb-Associated Non-Coding RNAs.
MA446670 - JP 2018138019-A/18596: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96BD8 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9Y6, B4E0P4, C18orf24, ENST00000285116.1, ENST00000285116.2, ENST00000285116.3, ENST00000285116.4, ENST00000285116.5, ENST00000285116.6, ENST00000285116.7, NM_145060, Q96BD8, SKA1_HUMAN, uc317kgy.1, uc317kgy.2
UCSC ID: ENST00000285116.8_4
RefSeq Accession: NM_145060.4
Protein: Q96BD8 (aka SKA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.