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CCDC124 coiled-coil domain containing 124 [ Homo sapiens (human) ]

Gene ID: 115098, updated on 5-Mar-2024

Summary

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Official Symbol
CCDC124provided by HGNC
Official Full Name
coiled-coil domain containing 124provided by HGNC
Primary source
HGNC:HGNC:25171
See related
Ensembl:ENSG00000007080 AllianceGenome:HGNC:25171
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
Lso2; oxs1
Summary
Enables RNA binding activity. Predicted to be involved in cell division. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 28.5), kidney (RPKM 22.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17933015..17943985)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18067107..18078073)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18043824..18054794)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17973211-17973945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14287 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17979569-17980222 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17980223-17980876 Neighboring gene ribosomal protein L18a Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17984524-17985296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17988651-17989150 Neighboring gene solute carrier family 5 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14288 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18029877-18030622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18030623-18031368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18033123-18033624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18042902-18043440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18062016-18062634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18062635-18063252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18063253-18063870 Neighboring gene MPRA-validated peak3398 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18073163-18073735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18076903-18077620 Neighboring gene potassium calcium-activated channel subfamily N member 1 Neighboring gene MPRA-validated peak3399 silencer Neighboring gene RNA, 5S ribosomal pseudogene 468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18095189-18095870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18098837-18099338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18099339-18099838 Neighboring gene Sharpr-MPRA regulatory region 11250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18107595-18108096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18124072-18124572 Neighboring gene arrestin domain containing 2

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. Dimerization underlies the aggregation propensity of intrinsically disordered coiled-coil domain-containing 124. Tuzlakoğlu Öztürk M, et al. Proteins, 2022 Jan. PMID 34369007
  2. Coiled-coil domain-containing protein-124 (Ccdc124) is a novel RNA binding factor up-regulated in endometrial, ovarian, and urinary bladder cancers. Arslan Ö, et al. Cancer Biomark, 2021. PMID 33896821
  3. Coiled-coil domain containing protein 124 is a novel centrosome and midbody protein that interacts with the Ras-guanine nucleotide exchange factor 1B and is involved in cytokinesis. Telkoparan P, et al. PLoS One, 2013. PMID 23894443, Free PMC Article
  4. Structure and function of yeast Lso2 and human CCDC124 bound to hibernating ribosomes. Wells JN, et al. PLoS Biol, 2020 Jul. PMID 32687489, Free PMC Article
  5. Structural basis for translational shutdown and immune evasion by the Nsp1 protein of SARS-CoV-2. Thoms M, et al. Science, 2020 Sep 4. PMID 32680882, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dimerization underlies the aggregation propensity of intrinsically disordered coiled-coil domain-containing 124.
    Title: Dimerization underlies the aggregation propensity of intrinsically disordered coiled-coil domain-containing 124.
  2. Coiled-coil domain-containing protein-124 (Ccdc124) is a novel RNA binding factor up-regulated in endometrial, ovarian, and urinary bladder cancers.
    Title: Coiled-coil domain-containing protein-124 (Ccdc124) is a novel RNA binding factor up-regulated in endometrial, ovarian, and urinary bladder cancers.
  3. Structure and function of yeast Lso2 and human CCDC124 bound to hibernating ribosomes.
    Title: Structure and function of yeast Lso2 and human CCDC124 bound to hibernating ribosomes.
  4. Ccdc124 is a novel factor operating both for proper progression of late cytokinetic stages in eukaryotes.
    Title: Coiled-coil domain containing protein 124 is a novel centrosome and midbody protein that interacts with the Ras-guanine nucleotide exchange factor 1B and is involved in cytokinesis.
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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in midbody IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 124

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_001136203.2 → NP_001129675.1  coiled-coil domain-containing protein 124

    See identical proteins and their annotated locations for NP_001129675.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013949, BM998230, BQ669035, DB503140
    Consensus CDS
    CCDS12369.1
    UniProtKB/Swiss-Prot
    Q96CT7
    Related
    ENSP00000408730.1, ENST00000445755.7
    Conserved Domains (1) summary
    pfam06244
    Location:96 → 212
    Ccdc124; Coiled-coil domain-containing protein 124

  2. NM_138442.4 → NP_612451.1  coiled-coil domain-containing protein 124

    See identical proteins and their annotated locations for NP_612451.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013949, BG829184, BM998230, BP309483
    Consensus CDS
    CCDS12369.1
    UniProtKB/Swiss-Prot
    Q96CT7
    Related
    ENSP00000471455.1, ENST00000597436.5
    Conserved Domains (1) summary
    pfam06244
    Location:96 → 212
    Ccdc124; Coiled-coil domain-containing protein 124

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    17933015..17943985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18067107..18078073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96CT7.1 GenPept UniProtKB/Swiss-Prot:Q96CT7

Gene LinkOut

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

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