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

Gene ID: 220134, updated on 23-Nov-2023

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 several processes, including chromosome segregation; mitotic cell cycle; and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of outer kinetochore. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 4.0), testis (RPKM 3.1) and 12 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50375046..50394168)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50576800..50595915)
105.20220307 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
  • 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. SKA1 overexpression is associated with the prognosis of esophageal squamous cell carcinoma and regulates cell proliferation and migration. Hu D, et al. Int J Mol Med, 2019 Nov. PMID 31545481
  3. High expression of spindle and kinetochore- associated protein 1 predicts early recurrence and progression of non-muscle invasive bladder cancer. Jiang S, et al. Cancer Biomark, 2018. PMID 29865039
  4. Overexpression of spindle and kinetochore-associated protein 1 contributes to the progression of prostate cancer. Wang K, et al. Tumour Biol, 2017 Jun. PMID 28651496
  5. Knockdown of SKA1 gene inhibits cell proliferation and metastasis in human adenoid cystic carcinoma. Zhao LJ, et al. Biomed Pharmacother, 2017 Jun. PMID 28340379

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  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. Prognostic value and functional bioinformatic analysis of spindle- and kinetochore-associated protein 1 in stage IIA esophageal squamous cell carcinoma.
    Title: Prognostic value and functional bioinformatic analysis of spindle- and kinetochore-associated protein 1 in stage IIA esophageal squamous cell carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (37)

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)

Genotypes

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 cell division IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell division IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chromosome segregation 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 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 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
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
  
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 1
Names
spindle and KT (kinetochore) associated 1

NCBI Reference Sequences (RefSeq)

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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  spindle and kinetochore-associated protein 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  spindle and kinetochore-associated protein 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_2023_10

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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