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

Gene ID: 729440, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 2.6), spleen (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.32
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45995467..46018616)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48822934..48846071)
105.20220307 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 (20) 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)

Genotypes

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 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
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_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
    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.

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