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    SKA1 spindle and kinetochore associated complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 220134, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SKA1provided by HGNC
    Official Full Name
    spindle and kinetochore associated complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:28109
    See related
    Ensembl:ENSG00000154839 MIM:616673; AllianceGenome:HGNC:28109
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C18orf24
    Summary
    Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore; negative regulation of mitotic spindle assembly checkpoint signaling; and positive regulation of microtubule polymerization. Located in intercellular bridge; kinetochore; and microtubule cytoskeleton. Part of SKA complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 4.0), testis (RPKM 3.1) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SKA1 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50375046..50394168)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50576800..50595915)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47901416..47920538)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 458 Neighboring gene uncharacterized LOC105372114 Neighboring gene Sharpr-MPRA regulatory region 4563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47924391-47925090 Neighboring gene NANOG hESC enhancer GRCh37_chr18:47926697-47927214 Neighboring gene uncharacterized LOC105372115 Neighboring gene CRISPRi-validated cis-regulatory element chr18.1136 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Prognostic value and functional bioinformatic analysis of spindle- and kinetochore-associated protein 1 in stage IIA esophageal squamous cell carcinoma. Hu D, et al. J Cancer Res Ther, 2020 Sep. PMID 33004764
    2. Preliminary exploration of SKA1 expression in lung adenocarcinoma and its clinical significance. Zeng W, et al. Acta Biochim Biophys Sin (Shanghai), 2023 Dec 25. PMID 37814813, Free PMC Article
    3. Integrated analysis of SKA1-related ceRNA network and SKA1 immunoassays in HCC: A study based on bioinformatic. Zeng F, et al. Medicine (Baltimore), 2023 Sep 22. PMID 37746945, Free PMC Article
    4. SKA1 regulates the metastasis and cisplatin resistance of non-small cell lung cancer. Shen L, et al. Oncol Rep, 2016 May. PMID 26985856, Free PMC Article
    5. Downregulation of SKA1 Gene Expression Inhibits Cell Growth in Human Bladder Cancer. Tian F, et al. Cancer Biother Radiopharm, 2015 Sep. PMID 26197237

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Preliminary exploration of SKA1 expression in lung adenocarcinoma and its clinical significance.
      Title: Preliminary exploration of SKA1 expression in lung adenocarcinoma and its clinical significance.
    2. Integrated analysis of SKA1-related ceRNA network and SKA1 immunoassays in HCC: A study based on bioinformatic.
      Title: Integrated analysis of SKA1-related ceRNA network and SKA1 immunoassays in HCC: A study based on bioinformatic.
    3. Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA.
      Title: Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA.
    4. Kinetochore-microtubule attachment in human cells is regulated by the interaction of a conserved motif of Ska1 with EB1.
      Title: Kinetochore-microtubule attachment in human cells is regulated by the interaction of a conserved motif of Ska1 with EB1.
    5. SKA1 is overexpressed in laryngocarcinoma and modulates cell growth via P53 signaling pathway.
      Title: SKA1 is overexpressed in laryngocarcinoma and modulates cell growth via P53 signaling pathway.
    6. SKA1 promotes tumor metastasis via SAFB-mediated transcription repression of DUSP6 in clear cell renal cell carcinoma.
      Title: SKA1 promotes tumor metastasis via SAFB-mediated transcription repression of DUSP6 in clear cell renal cell carcinoma.
    7. ETV5 overexpression promotes progression of esophageal squamous cell carcinoma by upregulating SKA1 and TRPV2.
      Title: ETV5 overexpression promotes progression of esophageal squamous cell carcinoma by upregulating SKA1 and TRPV2.
    8. miRNA-10a-5p inhibits cell metastasis in hepatocellular carcinoma via targeting SKA1.
      Title: miRNA-10a-5p inhibits cell metastasis in hepatocellular carcinoma via targeting SKA1.
    9. Circular RNA FAT atypical cadherin 1 (circFAT1)/microRNA-525-5p/spindle and kinetochore-associated complex subunit 1 (SKA1) axis regulates oxaliplatin resistance in breast cancer by activating the notch and Wnt signaling pathway.
      Title: Circular RNA FAT atypical cadherin 1 (circFAT1)/microRNA-525-5p/spindle and kinetochore-associated complex subunit 1 (SKA1) axis regulates oxaliplatin resistance in breast cancer by activating the notch and Wnt signaling pathway.
    10. Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates in hepatocellular carcinoma.
      Title: Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates in hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10200

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of meiotic spindle orientation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mitotic spindle assembly checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of microtubule polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of microtubule polymerization or depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule polymerization or depolymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spindle assembly involved in female meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of SKA complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of outer kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of outer kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SKA complex subunit 1
    Names
    spindle and KT (kinetochore) associated 1
    spindle and kinetochore-associated protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039535.3 → NP_001034624.1  SKA complex subunit 1

      See identical proteins and their annotated locations for NP_001034624.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC105227, BC015606, BC015706, BU659790, BX956145, CN403719
      Consensus CDS
      CCDS11946.1
      UniProtKB/Swiss-Prot
      B2R9Y6, B4E0P4, Q96BD8
      Related
      ENSP00000381470.1, ENST00000398452.6
      Conserved Domains (1) summary
      pfam07160
      Location:17 → 246
      SKA1; Spindle and kinetochore-associated protein 1

    2. NM_145060.4 → NP_659497.1  SKA complex subunit 1

      See identical proteins and their annotated locations for NP_659497.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC105227, BC015606, BC015706, BU659790, BX956145
      Consensus CDS
      CCDS11946.1
      UniProtKB/Swiss-Prot
      B2R9Y6, B4E0P4, Q96BD8
      Related
      ENSP00000285116.3, ENST00000285116.8
      Conserved Domains (1) summary
      pfam07160
      Location:17 → 246
      SKA1; Spindle and kinetochore-associated protein 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      50375046..50394168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315956.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      82853..101975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      50576800..50595915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BD8.1 GenPept UniProtKB/Swiss-Prot:Q96BD8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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