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CFAP61 cilia and flagella associated protein 61 [ Homo sapiens (human) ]

Gene ID: 26074, updated on 17-May-2023

Summary

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Official Symbol
CFAP61provided by HGNC
Official Full Name
cilia and flagella associated protein 61provided by HGNC
Primary source
HGNC:HGNC:15872
See related
Ensembl:ENSG00000089101 MIM:620381; AllianceGenome:HGNC:15872
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
CaM-IP3; C20orf26; dJ1002M8.3; dJ1178H5.4
Summary
Predicted to be involved in cilium movement and cilium organization. Predicted to be located in axoneme and motile cilium. Predicted to colocalize with radial spoke stalk. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.3), heart (RPKM 1.5) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See CFAP61 in Genome Data Viewer
Location:
20p11.23
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20052532..20360698)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20106812..20419226)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20033176..20341342)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19998307-19998807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19999269-20000468 Neighboring gene N-alpha-acetyltransferase 20, NatB catalytic subunit Neighboring gene crooked neck pre-mRNA splicing factor 1 Neighboring gene uncharacterized LOC124904880 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20086826-20087390 Neighboring gene uncharacterized LOC105372554 Neighboring gene CFAP61 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20247710-20248210 Neighboring gene ribosomal protein L17 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:20347841-20348611 Neighboring gene INSM transcriptional repressor 1

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. Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia. Hu T, et al. J Med Genet, 2023 Feb. PMID 35387802
  2. A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity. Dymek EE, et al. J Cell Biol, 2007 Nov 5. PMID 17967944, Free PMC Article
  3. CFAP61 is required for sperm flagellum formation and male fertility in human and mouse. Liu S, et al. Development, 2021 Dec 1. PMID 34792097
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
  5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.
    Title: Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.
  2. CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
    Title: CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
  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.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
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

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

  • DKFZp434K156

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium organization 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 motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 61

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_001167816.1 → NP_001161288.1  cilia- and flagella-associated protein 61 isoform 2

    See identical proteins and their annotated locations for NP_001161288.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL035454, AL049648, AL117439
    Consensus CDS
    CCDS54452.1
    UniProtKB/Swiss-Prot
    Q8NHU2
    Related
    ENSP00000414537.2, ENST00000451767.6
    Conserved Domains (1) summary
    pfam16092
    Location:15 → 272
    DUF4821; Domain of unknown function (DUF4821)

  2. NM_015585.4 → NP_056400.3  cilia- and flagella-associated protein 61 isoform 1

    See identical proteins and their annotated locations for NP_056400.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK307817, AL035454, AL049648, AL161658, BC028708
    Consensus CDS
    CCDS33447.1
    UniProtKB/Swiss-Prot
    Q8NHU2, Q9Y4V7
    Related
    ENSP00000245957.5, ENST00000245957.10
    Conserved Domains (1) summary
    pfam16092
    Location:15 → 272
    DUF4821; Domain of unknown function (DUF4821)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    20052532..20360698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    20106812..20419226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NHU2.3 GenPept UniProtKB/Swiss-Prot:Q8NHU2

Gene LinkOut

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

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