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    CCDC61 coiled-coil domain containing 61 [ Homo sapiens (human) ]

    Gene ID: 729440, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC61provided by HGNC
    Official Full Name
    coiled-coil domain containing 61provided by HGNC
    Primary source
    HGNC:HGNC:33629
    See related
    Ensembl:ENSG00000104983 MIM:620676; AllianceGenome:HGNC:33629
    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
    VFL3; hVFL3
    Summary
    Enables identical protein binding activity and microtubule binding activity. Involved in centriole assembly and mitotic spindle assembly. Located in centriolar satellite and ciliary basal body. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.6), spleen (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC61 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45995467..46018616)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48822934..48846071)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46498725..46521874)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nanos C2HC-type zinc finger 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46430224-46430724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14831 Neighboring gene CRISPR/Cas9-targeted silencer 7 Neighboring gene NOVA alternative splicing regulator 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46455793-46456740 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:46463595-46464168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14833 Neighboring gene Sharpr-MPRA regulatory region 4903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46506355-46506854 Neighboring gene Sharpr-MPRA regulatory region 13926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46524919-46525804 Neighboring gene peptidoglycan recognition protein 1 Neighboring gene microRNA 769

    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. CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions. Ochi T, et al. Structure, 2020 Jun 2. PMID 32375023, Free PMC Article
    2. hVFL3/CCDC61 is a component of mother centriole subdistal appendages required for centrosome cohesion and positioning. Pizon V, et al. Biol Cell, 2020 Jan. PMID 31789463
    3. Ccdc61 controls centrosomal localization of Cep170 and is required for spindle assembly and symmetry. Bärenz F, et al. Mol Biol Cell, 2018 Dec 15. PMID 30354798, Free PMC Article
    4. p62/SQSTM1 Fuels Melanoma Progression by Opposing mRNA Decay of a Selective Set of Pro-metastatic Factors. Karras P, et al. Cancer Cell, 2019 Jan 14. PMID 30581152
    5. A Genome-Wide Knockout Screen in Human Macrophages Identified Host Factors Modulating Salmonella Infection. Yeung ATY, et al. mBio, 2019 Oct 8. PMID 31594818, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions.
      Title: CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions.
    2. Ccdc61 controls centrosomal localization of Cep170 and is required for spindle assembly and symmetry.
      Title: Ccdc61 controls centrosomal localization of Cep170 and is required for spindle assembly and symmetry.
    3. hVFL3/CCDC61 is the human orthologue of proteins required for anchoring distinct sets of cytoskeletal fibers to centrioles in unicellular eukaryotes.
      Title: hVFL3/CCDC61 is a component of mother centriole subdistal appendages required for centrosome cohesion and positioning.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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)

    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 identical protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centriole assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic spindle assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of centriolar subdistal appendage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein CCDC61
    Names
    VFL3 homolog
    coiled-coil domain-containing protein 61
    variable flagellar number 3 homolog (C. reinhardtii)

    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_001267723.2 → NP_001254652.1  centrosomal protein CCDC61

      See identical proteins and their annotated locations for NP_001254652.1

      Status: VALIDATED

      Source sequence(s)
      AC011545, AW453013, BI819372, BQ184369, CA775840, CB852675, DR007040
      Consensus CDS
      CCDS46120.2
      UniProtKB/Swiss-Prot
      C8CAP4, Q9HDB6, Q9Y6R9
      Related
      ENSP00000471454.1, ENST00000595358.5
      Conserved Domains (1) summary
      TIGR02168
      Location:174 → 277
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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
      45995467..46018616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48822934..48846071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080402.1: Suppressed sequence

      Description
      NM_001080402.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6R9.3 GenPept UniProtKB/Swiss-Prot:Q9Y6R9

    Gene LinkOut

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

    Chemical Information
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