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CFAP58 cilia and flagella associated protein 58 [ Homo sapiens (human) ]

Gene ID: 159686, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP58provided by HGNC
Official Full Name
cilia and flagella associated protein 58provided by HGNC
Primary source
HGNC:HGNC:26676
See related
Ensembl:ENSG00000120051 MIM:619129; AllianceGenome:HGNC:26676
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
SPGF49; CCDC147; C10orf80; bA127L20.4; bA127L20.5; bA554P13.1
Summary
Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.8), endometrium (RPKM 0.6) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See CFAP58 in Genome Data Viewer
Location:
10q25.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104338520..104455102)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105226654..105343247)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (106098278..106214860)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:106058991-106060190 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106060509-106061008 Neighboring gene glutathione S-transferase omega 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106075123-106075652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106075653-106076181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:106078667-106079168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106083478-106084208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106084209-106084937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106086727-106087372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106087373-106088018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106089957-106090602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106090603-106091248 Neighboring gene Sharpr-MPRA regulatory region 8343 Neighboring gene ITPRIP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3984 Neighboring gene Sharpr-MPRA regulatory region 11867 Neighboring gene inositol 1,4,5-trisphosphate receptor interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2799 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:106109241-106110165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3989 Neighboring gene CFAP58 divergent transcript Neighboring gene uncharacterized LOC124902590 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:106189573-106190174 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:106204662-106205861 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106240617-106241118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106241119-106241618 Neighboring gene long intergenic non-protein coding RNA 2620 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:106267772-106267962 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:106293232-106293744 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:106293745-106294257 Neighboring gene uncharacterized LOC105378464

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 mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella. Sha Y, et al. Clin Genet, 2021 Mar. PMID 33314088
  2. Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. Liu Y, et al. J Thorac Oncol, 2016 Jan. PMID 26762739, Free PMC Article
  3. Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice. He X, et al. Am J Hum Genet, 2020 Sep 3. PMID 32791035, Free PMC Article
  4. Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation. Mason B, et al. Cell Mol Life Sci, 2020 Jul. PMID 31560077, Free PMC Article
  5. Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Pieragostino D, et al. Mol Biosyst, 2013 Jun. PMID 23580065

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
    Title: Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
  2. Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
    Title: Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
  3. A heterozygous p.Arg696Cys variant in the coiled-coil domain containing 147 gene at 10q25.1 was associated with Lung Cancer.
    Title: Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.
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
Spermatogenic failure 49
MedGen: C5436887 OMIM: 619144 GeneReviews: Not available
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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

  • FLJ35908, MGC126475

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 Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to motile cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm flagellum assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sperm mitochondrial sheath assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space HDA PubMed 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm midpiece IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
cilia- and flagella-associated protein 58
Names
coiled-coil domain containing 147
coiled-coil domain-containing protein 147

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_001008723.2 → NP_001008723.1  cilia- and flagella-associated protein 58 isoform 1

    See identical proteins and their annotated locations for NP_001008723.1

    Status: VALIDATED

    Source sequence(s)
    AL355378, BC036225
    Consensus CDS
    CCDS31282.1
    UniProtKB/Swiss-Prot
    D3DRA6, Q5T655, Q8NA27
    Related
    ENSP00000358718.3, ENST00000369704.8
    Conserved Domains (1) summary
    COG1196
    Location:33 → 709
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. NM_001400226.1 → NP_001387155.1  cilia- and flagella-associated protein 58 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162742, AL355378

  3. NM_001400227.1 → NP_001387156.1  cilia- and flagella-associated protein 58 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162742, AL355378

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    104338520..104455102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    105226654..105343247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T655.1 GenPept UniProtKB/Swiss-Prot:Q5T655

Gene LinkOut

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