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

    Gene ID: 25790, updated on 9-Jun-2024

    Summary

    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; axoneme; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See CFAP45 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159872364..159900165, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159009376..159037231, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 
    located_in axonemal B tubule inner sheath IEA
    Inferred from Electronic Annotation
    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 

    General protein information

    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)

    NEW Try the new Transcript table

    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_012337.3NP_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:187532
      TPH; Trichohyalin-plectin-homology domain
      cl19818
      Location:330385
      DUF106; Integral membrane protein DUF106

    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_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)