SPC24 SPC24 component of NDC80 kinetochore complex [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPC24provided by HGNC
Official Full Name: SPC24 component of NDC80 kinetochore complexprovided by HGNC
Primary source: HGNC:HGNC:26913
See related: Ensembl:ENSG00000161888 MIM:609394; AllianceGenome:HGNC:26913
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: SPBC24
Summary: Predicted to be involved in cell division. Located in nucleolus and nucleoplasm. Part of Ndc80 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bone marrow (RPKM 2.7), lymph node (RPKM 1.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11145493..11155782, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11272490..11282805, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11256169..11266458, complement)

Chromosome 19 - NC_000019.10 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?

LINC02154 promotes the proliferation and metastasis of hepatocellular carcinoma by enhancing SPC24 promoter activity and activating the PI3K-AKT signaling pathway.
Title: LINC02154 promotes the proliferation and metastasis of hepatocellular carcinoma by enhancing SPC24 promoter activity and activating the PI3K-AKT signaling pathway.
hsa-miR-7-5p suppresses proliferation, migration and promotes apoptosis in hepatocellular carcinoma cell lines by inhibiting SPC24 expression.
Title: hsa-miR-7-5p suppresses proliferation, migration and promotes apoptosis in hepatocellular carcinoma cell lines by inhibiting SPC24 expression.
SPC24 is up-regulated in human breast cancer.SPC24 regulates PI3K/AKT kinase pathway in breast cancer.
Title: SPC24 Regulates breast cancer progression by PI3K/AKT signaling.
our data demonstrates that SPC24 can serve as a promising prognostic biomarker of anaplastic thyroid cancer cells
Title: SPC24 is critical for anaplastic thyroid cancer progression.
Data indicate that kinetochore protein Spc24 (SPC24) may be a promising molecular target for hepatocellular carcinoma (HCC) therapy.
Title: A novel prognostic biomarker SPC24 up-regulated in hepatocellular carcinoma.
the Spc24, Spc25, Nuf2, and Ndc80/Hec1 complex is a faithful copy of the endogenous Ndc80 complex
Title: Architecture of the human ndc80-hec1 complex, a critical constituent of the outer kinetochore.
hSPC24 is a component of the human NDC80 kinetochore complex
Title: Identification of two novel components of the human NDC80 kinetochore complex.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

L17809 (e-PCR)
- UniSTS:39087

NoName (e-PCR)
- UniSTS:490168

SHGC-58054 (e-PCR)
- UniSTS:26575

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in attachment of spindle microtubules to kinetochore	IDA Inferred from Direct Assay 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 chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Ndc80 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Ndc80 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Ndc80 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	NAS Non-traceable Author Statement more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: kinetochore protein Spc24

Names: SPC24, NDC80 kinetochore complex component, homolog; hSpc24; spindle pole body component 24 homolog

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_001317031.2 → NP_001303960.1 kinetochore protein Spc24 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC011485

UniProtKB/TrEMBL

K7EJV2

Related

ENSP00000465335.1, ENST00000592967.5

Conserved Domains (1) summary

pfam08286
Location:83 → 146

Spc24; Spc24 subunit of Ndc80
NM_001317032.2 → NP_001303961.1 kinetochore protein Spc24 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC011485

UniProtKB/TrEMBL

K7EJH0

Related

ENSP00000465167.1, ENST00000585486.1

Conserved Domains (1) summary

pfam08286
Location:83 → 162

Spc24; Spc24 subunit of Ndc80
NM_001394314.1 → NP_001381243.1 kinetochore protein Spc24 isoform 5

Status: VALIDATED

Source sequence(s)

AC011485

UniProtKB/TrEMBL

K7EMX1

Related

ENSP00000466688.1, ENST00000591396.5

Conserved Domains (1) summary

COG1269
Location:4 → 119

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
NM_001394315.1 → NP_001381244.1 kinetochore protein Spc24 isoform 6

Status: VALIDATED

Source sequence(s)

AC011485

UniProtKB/TrEMBL

K7EJH0

Conserved Domains (1) summary

COG1269
Location:4 → 119

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
NM_001394316.1 → NP_001381245.1 kinetochore protein Spc24 isoform 7

Status: VALIDATED

Source sequence(s)

AC011485

UniProtKB/TrEMBL

K7EJH0

Conserved Domains (1) summary

COG1269
Location:4 → 119

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
NM_001394317.1 → NP_001381246.1 kinetochore protein Spc24 isoform 8

Status: VALIDATED

Source sequence(s)

AC011485

Conserved Domains (1) summary

COG1269
Location:4 → 119

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
NM_001394318.1 → NP_001381247.1 kinetochore protein Spc24 isoform 9

Status: VALIDATED

Source sequence(s)

AC011485

Conserved Domains (1) summary

COG1269
Location:4 → 119

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
NM_182513.4 → NP_872319.1 kinetochore protein Spc24 isoform 1

See identical proteins and their annotated locations for NP_872319.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC011485

Consensus CDS

CCDS45974.1

UniProtKB/Swiss-Prot

B4DZZ7, C9JGC4, Q8NBT2

UniProtKB/TrEMBL

K7EJH0

Related

ENSP00000465075.1, ENST00000592540.6

Conserved Domains (2) summary

COG1269
Location:4 → 119

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam08286
Location:83 → 192

Spc24; Spc24 subunit of Ndc80