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

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; AllianceGenome:HGNC:26530
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: mouse all
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Genomic context

Location:: 18q21.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (50227193..50266495, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (50428917..50468237, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (47753563..47792865, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CCDC11 is a cilium-associated gene with a role in left-right patterning in Xenopus and in laterality disorders in humans
Title: Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.
Cfap53 is a conserved regulator of organ laterality in both humans and zebrafish.
Title: A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
CCDC11 has a conserved essential function in cilia of the vertebrate left-right organizer during embryogenesis.
Title: Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.
The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member.
Title: A human laterality disorder associated with recessive CCDC11 mutation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

Associated conditions

Description	Tests
Heterotaxy, visceral, 6, autosomal MedGen: C3553676 OMIM: 614779 GeneReviews: Not available	Compare labs

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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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	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cilium movement involved in determination of left/right asymmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in manchette assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm flagellum assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in axonemal A tubule inner sheath	ISS Inferred from Sequence or Structural Similarity more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
is_active_in cellular_component	ND No biological Data available more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in manchette	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NG_042815.1 RefSeqGene

Range

5028..44330

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_145020.5 → NP_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

B4DXT1, Q96M91

Related

ENSP00000381553.3, ENST00000398545.5

Conserved Domains (2) summary

cd00187
Location:54 → 171

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:130 → 451

TPH; Trichohyalin-plectin-homology domain