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CFAP53 cilia and flagella associated protein 53 [ Homo sapiens (human) ]

Gene ID: 220136, updated on 23-Nov-2021

Summary

Official Symbol
CFAP53provided by HGNC
Official Full Name
cilia and flagella associated protein 53provided by HGNC
Primary source
HGNC:HGNC:26530
See related
Ensembl:ENSG00000172361 MIM:614759
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTX6; CCDC11
Summary
This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
Expression
Restricted expression toward testis (RPKM 45.5) See more
Orthologs
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Genomic context

See CFAP53 in Genome Data Viewer
Location:
18q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (50227193..50266495, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47753563..47792865, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene myosin VB Neighboring gene microRNA 4320 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene Neighboring gene methyl-CpG binding domain protein 1 Neighboring gene CXXC finger protein 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32743

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 IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial cilium movement involved in determination of left/right asymmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 53
Names
coiled-coil domain containing 11

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.

Genomic

  1. NG_042815.1 RefSeqGene

    Range
    5028..44330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_145020.5NP_659457.2  cilia- and flagella-associated protein 53

    See identical proteins and their annotated locations for NP_659457.2

    Status: REVIEWED

    Source sequence(s)
    AK302114, BC030606
    Consensus CDS
    CCDS11940.2
    UniProtKB/Swiss-Prot
    Q96M91
    Related
    ENSP00000381553.3, ENST00000398545.5
    Conserved Domains (2) summary
    cd00187
    Location:54171
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
    pfam13868
    Location:130451
    TPH; Trichohyalin-plectin-homology domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    50227193..50266495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451100.1XP_024306868.1  cilia- and flagella-associated protein 53 isoform X1

    Conserved Domains (1) summary
    cl25742
    Location:4261
    ERM; Ezrin/radixin/moesin family
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