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    CFAP99 cilia and flagella associated protein 99 [ Homo sapiens (human) ]

    Gene ID: 402160, updated on 17-Aug-2024

    Summary

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    Official Symbol
    CFAP99provided by HGNC
    Official Full Name
    cilia and flagella associated protein 99provided by HGNC
    Primary source
    HGNC:HGNC:51180
    See related
    Ensembl:ENSG00000206113 AllianceGenome:HGNC:51180
    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
    Summary
    Predicted to be located in motile cilium. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 5.5), lung (RPKM 0.5) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP99 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2418955..2463002)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2417709..2461661)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2420682..2464729)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene zinc finger FYVE-type containing 28 Neighboring gene uncharacterized LOC124900649 Neighboring gene uncharacterized LOC105374352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15165 Neighboring gene uncharacterized LOC107986249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2388710-2389224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2390450-2391184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2391185-2391918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2391919-2392652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2392653-2393385 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2395333-2395503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2403273-2403944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2409813-2410318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2413256-2413776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2413777-2414297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2417974-2418532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2418533-2419091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2424482-2425072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2425073-2425662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2425663-2426252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2426253-2426841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15169 Neighboring gene uncharacterized LOC105374353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2465175-2465674 Neighboring gene uncharacterized LOC107986250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2470739-2471311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2478879-2479379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2480295-2480819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21176 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2487795-2488296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2491261-2492041 Neighboring gene ring finger protein 4

    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 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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 99

    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_001193282.4 → NP_001180211.2  cilia- and flagella-associated protein 99

      Status: VALIDATED

      Source sequence(s)
      AL645924, KF459867
      UniProtKB/TrEMBL
      A0A087WWY8
      Related
      ENSP00000488922.2, ENST00000635017.2
      Conserved Domains (1) summary
      PTZ00121
      Location:303 → 591
      PTZ00121; MAEBL; Provisional

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      2418955..2463002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415685.1 → XP_047271641.1  cilia- and flagella-associated protein 99 isoform X1

      UniProtKB/Swiss-Prot
      A0A0U1RQC7, D6REC4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      2417709..2461661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350021.1 → XP_054205996.1  cilia- and flagella-associated protein 99 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D6REC4.2 GenPept UniProtKB/Swiss-Prot:D6REC4

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials