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    CFAP263 cilia and flagella associated protein 263 [ Homo sapiens (human) ]

    Gene ID: 29070, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CFAP263provided by HGNC
    Official Full Name
    cilia and flagella associated protein 263provided by HGNC
    Primary source
    HGNC:HGNC:25002
    See related
    Ensembl:ENSG00000103021 MIM:616070; AllianceGenome:HGNC:25002
    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
    CCDC113; HSPC065
    Summary
    Involved in cilium assembly. Located in centriolar satellite and ciliary basal body. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 6.0), brain (RPKM 3.3) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP263 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58249936..58283836)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (64045534..64079127)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58283840..58317740)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 645, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11051 Neighboring gene uncharacterized LOC105371293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7549 Neighboring gene Sharpr-MPRA regulatory region 4701 Neighboring gene Sharpr-MPRA regulatory region 1225 Neighboring gene serine protease 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58366261-58366762 Neighboring gene RNA, U6 small nuclear 269, pseudogene Neighboring gene RNA, U6 small nuclear 1110, pseudogene

    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. Ccdc113/Ccdc96 complex, a novel regulator of ciliary beating that connects radial spoke 3 to dynein g and the nexin link. Bazan R, et al. PLoS Genet, 2021 Mar. PMID 33661892, Free PMC Article
    2. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article
    3. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • FLJ23555, DKFZp434N1418

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite IMP
    Inferred from Mutant Phenotype
    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 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 113
    Names
    coiled-coil domain containing 113

    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_001142302.2 → NP_001135774.1  coiled-coil domain-containing protein 113 isoform 2

      See identical proteins and their annotated locations for NP_001135774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC009107
      Consensus CDS
      CCDS45497.1
      UniProtKB/Swiss-Prot
      Q9H0I3
      Related
      ENSP00000402588.2, ENST00000443128.6
      Conserved Domains (1) summary
      pfam13870
      Location:125 → 300
      DUF4201; Domain of unknown function (DUF4201)

    2. NM_014157.4 → NP_054876.2  coiled-coil domain-containing protein 113 isoform 1

      See identical proteins and their annotated locations for NP_054876.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009107
      Consensus CDS
      CCDS10795.1
      UniProtKB/Swiss-Prot
      B2RAQ7, B4DR20, Q9H0I3, Q9NZX2
      Related
      ENSP00000219299.4, ENST00000219299.8
      Conserved Domains (1) summary
      pfam13870
      Location:180 → 354
      DUF4201; Domain of unknown function (DUF4201)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      58249936..58283836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      64045534..64079127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0I3.1 GenPept UniProtKB/Swiss-Prot:Q9H0I3

    Gene LinkOut

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

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