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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
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Genomic context

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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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