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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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    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
    		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)

    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

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

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