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    SKA3 spindle and kinetochore associated complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 221150, updated on 9-Dec-2024

    Summary

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    Official Symbol
    SKA3provided by HGNC
    Official Full Name
    spindle and kinetochore associated complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:20262
    See related
    Ensembl:ENSG00000165480 MIM:619247; AllianceGenome:HGNC:20262
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAMA1; C13orf3
    Summary
    This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in testis (RPKM 4.8), bone marrow (RPKM 3.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SKA3 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21153595..21176552, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20346668..20369632, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21727734..21750691, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7432 Neighboring gene Sin3A associated protein 18 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21748764-21749486 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21750209-21750931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7433 Neighboring gene mitochondrial ribosomal protein L57 Neighboring gene OCT4 hESC enhancer GRCh37_chr13:21780309-21780832 Neighboring gene long intergenic non-protein coding RNA 1046

    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
    • 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. Spindle and kinetochore-related complex subunit 3 has a protumour function in osteosarcoma by activating the Notch pathway. Liang G, et al. Toxicol Appl Pharmacol, 2024 Feb. PMID 38228236
    2. Spindle and kinetochore‑associated complex subunit 3 accelerates breast cancer cell proliferation and invasion through the regulation of Akt/Wnt/β-catenin signaling. Zhang J, et al. Breast Cancer Res Treat, 2021 Feb. PMID 33423159
    3. Upregulation of SKA3 enhances cell proliferation and correlates with poor prognosis in hepatocellular carcinoma. Tang J, et al. Oncol Rep, 2021 Apr. PMID 33760206
    4. Circ-SKA3 upregulates ID3 expression by decoying miR-326 to accelerate the development of medulloblastoma. Zhao X, et al. J Clin Neurosci, 2021 Apr. PMID 33775353
    5. SKA3 promotes glioblastoma proliferation and invasion by enhancing the activation of Wnt/β-catenin signaling via modulation of the Akt/GSK-3β axis. Li C, et al. Brain Res, 2021 Aug 15. PMID 33895155

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Spindle and kinetochore-related complex subunit 3 has a protumour function in osteosarcoma by activating the Notch pathway.
      Title: Spindle and kinetochore-related complex subunit 3 has a protumour function in osteosarcoma by activating the Notch pathway.
    2. Specific intracellular retention of circSKA3 promotes colorectal cancer metastasis by attenuating ubiquitination and degradation of SLUG.
      Title: Specific intracellular retention of circSKA3 promotes colorectal cancer metastasis by attenuating ubiquitination and degradation of SLUG.
    3. Hypoxia-induced SKA3 promoted cholangiocarcinoma progression and chemoresistance by enhancing fatty acid synthesis via the regulation of PAR-dependent HIF-1a deubiquitylation.
      Title: Hypoxia-induced SKA3 promoted cholangiocarcinoma progression and chemoresistance by enhancing fatty acid synthesis via the regulation of PAR-dependent HIF-1a deubiquitylation.
    4. Transcription factor ZEB1 regulates PLK1-mediated SKA3 phosphorylation to promote lung cancer cell proliferation, migration and cell cycle.
      Title: Transcription factor ZEB1 regulates PLK1-mediated SKA3 phosphorylation to promote lung cancer cell proliferation, migration and cell cycle.
    5. SKA3 is a prognostic biomarker and associated with immune infiltration in bladder cancer.
      Title: SKA3 is a prognostic biomarker and associated with immune infiltration in bladder cancer.
    6. SKA3 promotes glioblastoma proliferation and invasion by enhancing the activation of Wnt/beta-catenin signaling via modulation of the Akt/GSK-3beta axis.
      Title: SKA3 promotes glioblastoma proliferation and invasion by enhancing the activation of Wnt/β-catenin signaling via modulation of the Akt/GSK-3β axis.
    7. MiR-133b suppresses the proliferation, migration and invasion of lung adenocarcinoma cells by targeting SKA3.
      Title: MiR-133b suppresses the proliferation, migration and invasion of lung adenocarcinoma cells by targeting SKA3.
    8. SKA3 Promotes Cell Growth in Breast Cancer by Inhibiting PLK-1 Protein Degradation.
      Title: SKA3 Promotes Cell Growth in Breast Cancer by Inhibiting PLK-1 Protein Degradation.
    9. 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.
    10. Circ-SKA3 Enhances Doxorubicin Toxicity in AC16 Cells Through miR-1303/TLR4 Axis.
      Title: Circ-SKA3 Enhances Doxorubicin Toxicity in AC16 Cells Through miR-1303/TLR4 Axis.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4832

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 metaphase chromosome alignment IPI
    Inferred from Physical Interaction
    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 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 centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    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 meiotic spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitotic spindle 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
    spindle and kinetochore-associated protein 3

    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_001166017.2 → NP_001159489.1  spindle and kinetochore-associated protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001159489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and alternate stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF361358, AK090584, AL158032
      Consensus CDS
      CCDS53856.1
      UniProtKB/Swiss-Prot
      Q8IX90
      Related
      ENSP00000382896.3, ENST00000400018.7
      Conserved Domains (1) summary
      cd12957
      Location:3 → 101
      SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain

    2. NM_145061.6 → NP_659498.4  spindle and kinetochore-associated protein 3 isoform 1

      See identical proteins and their annotated locations for NP_659498.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF361358, AL158032
      Consensus CDS
      CCDS31946.1
      UniProtKB/Swiss-Prot
      A2A330, A2A331, B2RBY2, Q5VZV5, Q86WR2, Q8IX90, Q8NBG1, Q96D22
      Related
      ENSP00000319417.5, ENST00000314759.6
      Conserved Domains (1) summary
      cd12957
      Location:3 → 101
      SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      21153595..21176552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266288.5 → XP_005266345.1  spindle and kinetochore-associated protein 3 isoform X2

      See identical proteins and their annotated locations for XP_005266345.1

      UniProtKB/Swiss-Prot
      Q8IX90
      Conserved Domains (1) summary
      cd12957
      Location:1 → 19
      SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain

    2. XM_011534994.3 → XP_011533296.1  spindle and kinetochore-associated protein 3 isoform X1

      Conserved Domains (1) summary
      cd12957
      Location:1 → 61
      SKA3_N; Spindle and kinetochore-associated protein 3, N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      20346668..20369632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374207.1 → XP_054230182.1  spindle and kinetochore-associated protein 3 isoform X2

    2. XM_054374206.1 → XP_054230181.1  spindle and kinetochore-associated protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IX90.2 GenPept UniProtKB/Swiss-Prot:Q8IX90

    Gene LinkOut

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

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