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

Summary

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

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 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

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D18S1311 (e-PCR)
- UniSTS:22317

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

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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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)

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
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