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CFAP54 cilia and flagella associated protein 54 [ Homo sapiens (human) ]

Gene ID: 144535, updated on 2-Nov-2024

Summary

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Official Symbol
CFAP54provided by HGNC
Official Full Name
cilia and flagella associated protein 54provided by HGNC
Primary source
HGNC:HGNC:26456
See related
Ensembl:ENSG00000188596 AllianceGenome:HGNC:26456
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
C12orf55; C12orf63
Summary
Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 1.4), lung (RPKM 0.4) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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See CFAP54 in Genome Data Viewer
Location:
12q23.1
Exon count:
69
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (96489577..96875555)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (96463738..96849324)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (96883355..97269333)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:96709352-96709984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:96709985-96710615 Neighboring gene RNA, U4 small nuclear 24, pseudogene Neighboring gene cyclin dependent kinase 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6830 Neighboring gene RN7SK pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6832 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:96878154-96878351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6831 Neighboring gene Sharpr-MPRA regulatory region 2123 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:96894427-96895626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4746 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:96915910-96916410 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:96916411-96916911 Neighboring gene MPRA-validated peak1903 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:97122708-97123302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6837 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 Neighboring gene NEDD1 gamma-tubulin ring complex targeting factor

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 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. Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients. Zhao X, et al. Front Med, 2023 Dec. PMID 37725231
  2. Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA. Tian S, et al. J Med Genet, 2023 Aug. PMID 36593121
  3. CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice. McKenzie CW, et al. Mol Biol Cell, 2015 Sep 15. PMID 26224312, Free PMC Article
  4. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Croteau-Chonka DC, et al. Obesity (Silver Spring), 2011 May. PMID 20966902, Free PMC Article
  5. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.
    Title: Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.
  2. Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
    Title: Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
  3. 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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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

  • FLJ31514, FLJ34470, FLJ44112, MGC183096, MGC184264

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cerebrospinal fluid circulation IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium movement involved in cell motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in mucociliary clearance IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm flagellum assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 54
Names
cilia and flagella associated 54

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_001306084.2 → NP_001293013.1  cilia- and flagella-associated protein 54 isoform 1

    See identical proteins and their annotated locations for NP_001293013.1

    Status: VALIDATED

    Source sequence(s)
    AC007564, AC008118, AK056076, AK091789, AK126100, BC041426, BX281772, BX644506, CF887548, CF891050, DB225896, DN831445, DV080224, DV080428, DV080725, EG328110
    Consensus CDS
    CCDS76588.1
    UniProtKB/Swiss-Prot
    E9PJL5, Q6ZTY8, Q96N23
    Related
    ENSP00000431759.5, ENST00000524981.9
    Conserved Domains (1) summary
    pfam14858
    Location:99 → 638
    DUF4486; Domain of unknown function (DUF4486)

  2. NM_001367885.1 → NP_001354814.1  cilia- and flagella-associated protein 54 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007513, AC007564, AC008118

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    96489577..96875555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    96463738..96849324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198520.2: Suppressed sequence

    Description
    NM_198520.2: This RefSeq was permanently suppressed because the CDS was partial and there is insufficient evidence to predict its full-length nature.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96N23.3 GenPept UniProtKB/Swiss-Prot:Q96N23

Gene LinkOut

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

Molecular Biology Databases
Research Materials