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

Gene ID: 147841, updated on 17-Jun-2019

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
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
Expression
Broad expression in bone marrow (RPKM 2.7), lymph node (RPKM 1.3) and 16 other tissues See more
Orthologs

Genomic context

See SPC24 in Genome Data Viewer
Location:
19p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11145493..11155997, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11257444..11266563, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor Neighboring gene microRNA 6886 Neighboring gene VISTA enhancer hs1754 Neighboring gene KN motif and ankyrin repeat domains 2 Neighboring gene uncharacterized LOC105372273 Neighboring gene dedicator of cytokinesis 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    PLK1 signaling events, organism-specific biosystem
    PLK1 signaling events
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90806

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Ndc80 complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kinetochore protein Spc24
Names
SPC24, NDC80 kinetochore complex component, homolog
hSpc24
spindle pole body component 24 homolog

NCBI Reference Sequences (RefSeq)

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_001317031.1NP_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, AK075287, BQ216591, HY082333
    UniProtKB/Swiss-Prot
    Q8NBT2
    Related
    ENSP00000465335.1, ENST00000592967.5
    Conserved Domains (1) summary
    pfam08286
    Location:83146
    Spc24; Spc24 subunit of Ndc80
  2. NM_001317032.1NP_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)
    BQ061822, HY082333
    Related
    ENSP00000465167.1, ENST00000585486.1
    Conserved Domains (1) summary
    pfam08286
    Location:83162
    Spc24; Spc24 subunit of Ndc80
  3. NM_001317033.2NP_001303962.1  kinetochore protein Spc24 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC011485, AK075287, AK303266
    UniProtKB/Swiss-Prot
    Q8NBT2
    UniProtKB/TrEMBL
    B4E086
    Conserved Domains (1) summary
    pfam08286
    Location:26135
    Spc24; Spc24 subunit of Ndc80
  4. NM_182513.3NP_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, AK075287, BC105037, HY082333
    Consensus CDS
    CCDS45974.1
    UniProtKB/Swiss-Prot
    Q8NBT2
    Related
    ENSP00000465075.1, ENST00000592540.5
    Conserved Domains (2) summary
    pfam08286
    Location:83192
    Spc24; Spc24 subunit of Ndc80
    cl27549
    Location:4119
    V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    11145493..11155997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527702.1XP_011526004.1  kinetochore protein Spc24 isoform X2

    Conserved Domains (1) summary
    pfam08286
    Location:83136
    Spc24; Spc24 subunit of Ndc80
  2. XM_005259753.3XP_005259810.1  kinetochore protein Spc24 isoform X1

    See identical proteins and their annotated locations for XP_005259810.1

    UniProtKB/Swiss-Prot
    Q8NBT2
    Conserved Domains (1) summary
    pfam08286
    Location:50146
    Spc24; Spc24 subunit of Ndc80
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