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

    Gene ID: 115098, updated on 10-Dec-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 transcription by RNA polymerase II. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 28.5), kidney (RPKM 22.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC124 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17933015..17943985)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18067107..18078073)
    RS_2024_09 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. 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
    2. Dimerization underlies the aggregation propensity of intrinsically disordered coiled-coil domain-containing 124. Tuzlakoğlu Öztürk M, et al. Proteins, 2022 Jan. PMID 34369007
    3. 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
    4. Live Cell Protein Imaging of Tandem Complemented-GFP11-Tagged Coiled-Coil Domain-Containing Protein-124 Identifies this Factor in G3BP1-Induced Stress-Granules. Hacibeyoğlu K, et al. Protein J, 2024 Aug. PMID 39009911
    5. Proteomics analysis identifies the ribosome associated coiled-coil domain-containing protein-124 as a novel interaction partner of nucleophosmin-1. Çakırca G, et al. Biol Cell, 2024 Jan. PMID 38029384

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Live Cell Protein Imaging of Tandem Complemented-GFP11-Tagged Coiled-Coil Domain-Containing Protein-124 Identifies this Factor in G3BP1-Induced Stress-Granules.
      Title: Live Cell Protein Imaging of Tandem Complemented-GFP11-Tagged Coiled-Coil Domain-Containing Protein-124 Identifies this Factor in G3BP1-Induced Stress-Granules.
    2. 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.
    3. 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.
    4. 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.
    5. 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    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_2024_08

    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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