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    CFAP45 cilia and flagella associated protein 45 [ Homo sapiens (human) ]

    Gene ID: 25790, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP45provided by HGNC
    Official Full Name
    cilia and flagella associated protein 45provided by HGNC
    Primary source
    HGNC:HGNC:17229
    See related
    Ensembl:ENSG00000213085 MIM:605152; AllianceGenome:HGNC:17229
    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
    HTX11; NESG1; CCDC19
    Summary
    Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axonemal microtubule; and nucleoplasm. Implicated in visceral heterotaxy. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP45 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159872364..159900165, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159009376..159037231, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159842154..159869955, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 28 Neighboring gene small nucleolar RNA SNORD64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1455 Neighboring gene uncharacterized LOC107985216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159830948-159831862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159831863-159832775 Neighboring gene V-set and immunoglobulin domain containing 8 Neighboring gene Sharpr-MPRA regulatory region 5062 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:159859176-159860375 Neighboring gene uncharacterized LOC124904434 Neighboring gene uncharacterized LOC124904435 Neighboring gene microRNA 4259 Neighboring gene Sharpr-MPRA regulatory regions 3039 and 8536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159882219-159882720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:159887707-159888596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1911 Neighboring gene uncharacterized LOC124904437 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:159893727-159894926 Neighboring gene transgelin 2

    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. Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium. Li Z, et al. Gene, 1999 Sep 3. PMID 10524255
    2. Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism. Liu Z, et al. Int J Cancer, 2011 Jun 1. PMID 20715168
    3. Potential tumor suppressor NESG1 as an unfavorable prognosis factor in nasopharyngeal carcinoma. Liu Z, et al. PLoS One, 2011. PMID 22140479, Free PMC Article
    4. Proteomic features of potential tumor suppressor NESG1 in nasopharyngeal carcinoma. Liu Z, et al. Proteomics, 2012 Nov. PMID 22997098
    5. VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer. Ning Y, et al. Cancer Sci, 2021 May. PMID 33788346, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
      Title: The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
    2. VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer.
      Title: VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer.
    3. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
      Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
    4. this study identified a novel mechanism that MAGI2-AS3/miR-15b-5p/CCDC19 signaling pathway regulates bladder cancer progression.
      Title: Long noncoding RNA MAGI2-AS3 regulates CCDC19 expression by sponging miR-15b-5p and suppresses bladder cancer progression.
    5. Down-regulated CCDC19 expression was observed in non-small cell lung cancers.
      Title: Candidate tumour suppressor CCDC19 regulates miR-184 direct targeting of C-Myc thereby suppressing cell growth in non-small cell lung cancers.
    6. Used proteomics technology to globally examine NESG1-controlled proteins in nasopharyngeal carcinoma(NPC) cells. Interestingly, a-enolase (ENO1), an overexpressed gene in NPC, was confirmed as a NESG1-regulated protein in NPC cells.
      Title: Proteomic features of potential tumor suppressor NESG1 in nasopharyngeal carcinoma.
    7. Decreased NESG1 expression is an unfavorable prognostic factor for nasopharyngeal carcinoma.
      Title: Potential tumor suppressor NESG1 as an unfavorable prognosis factor in nasopharyngeal carcinoma.
    8. Decreased expression of NESG1 is associated with nasopharyngeal carcinoma.
      Title: Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism.
    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, 11, autosomal, with male infertility
    MedGen: C5562019 OMIM: 619608 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association of serum bilirubin levels in Korean population.
    EBI GWAS Catalog

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebrospinal fluid circulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cilium movement involved in determination of left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cilium beat frequency involved in ciliary motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+0 motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axonemal B 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 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 45
    Names
    coiled-coil domain containing 19
    coiled-coil domain-containing protein 19, mitochondrial
    nasopharyngeal epithelium specific protein 1 (NESG1)
    nasopharyngeal epithelium-specific protein 1
    protein CFAP45, mitochondrial

    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_012337.3 → NP_036469.2  cilia- and flagella-associated protein 45

      See identical proteins and their annotated locations for NP_036469.2

      Status: VALIDATED

      Source sequence(s)
      AL590560, BC027874
      Consensus CDS
      CCDS30914.1
      UniProtKB/Swiss-Prot
      C9JH28, Q05BA3, Q5VU18, Q9UL16
      UniProtKB/TrEMBL
      A8K884
      Related
      ENSP00000357079.4, ENST00000368099.9
      Conserved Domains (2) summary
      pfam13868
      Location:187 → 532
      TPH; Trichohyalin-plectin-homology domain
      cl19818
      Location:330 → 385
      DUF106; Integral membrane protein DUF106

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      159872364..159900165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159009376..159037231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL16.2 GenPept UniProtKB/Swiss-Prot:Q9UL16

    Gene LinkOut

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

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