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    CFAP68 cilia and flagella associated protein 68 [ Homo sapiens (human) ]

    Gene ID: 64776, updated on 18-Nov-2024

    Summary

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    Official Symbol
    CFAP68provided by HGNC
    Official Full Name
    cilia and flagella associated protein 68provided by HGNC
    Primary source
    HGNC:HGNC:1163
    See related
    Ensembl:ENSG00000137720 AllianceGenome:HGNC:1163
    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
    C11orf1
    Summary
    Predicted to be involved in flagellated sperm motility. Located in axoneme and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 18.8), kidney (RPKM 14.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See CFAP68 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111879541..111885975)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111889784..111896218)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111750265..111756699)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ALG9 alpha-1,2-mannosyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3902 Neighboring gene G protein subunit gamma 5 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:111749557-111750176 Neighboring gene ferredoxin-fold anticodon binding domain containing 1 Neighboring gene ribosomal protein L37a pseudogene 8 Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111784209-111784862 Neighboring gene crystallin alpha B Neighboring gene heat shock protein family B (small) member 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 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. Uncovering structural themes across cilia microtubule inner proteins with implications for human cilia function. Andersen JS, et al. Nat Commun, 2024 Mar 27. PMID 38538594, Free PMC Article
    2. Characterization of five novel human genes in the 11q13-q22 region. O'Brien KP, et al. Biochem Biophys Res Commun, 2000 Jun 24. PMID 10873569
    3. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

    See all (15) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23499

    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 flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 68
    Names
    UPF0686 protein C11orf1

    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_001330371.2 → NP_001317300.1  cilia- and flagella-associated protein 68 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AJ250229, AP001781, BM828345
      Consensus CDS
      CCDS81625.1
      UniProtKB/TrEMBL
      E9PS93
      Related
      ENSP00000435864.1, ENST00000530214.5

    2. NM_022761.3 → NP_073598.1  cilia- and flagella-associated protein 68 isoform 1

      See identical proteins and their annotated locations for NP_073598.1

      Status: VALIDATED

      Source sequence(s)
      AP001781
      Consensus CDS
      CCDS8350.1
      UniProtKB/Swiss-Prot
      Q6I9X7, Q9H5F2, Q9NQC6
      Related
      ENSP00000260276.3, ENST00000260276.8
      Conserved Domains (1) summary
      pfam06608
      Location:2 → 149
      DUF1143; Protein of unknown function (DUF1143)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111879541..111885975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542957.4 → XP_011541259.1  cilia- and flagella-associated protein 68 isoform X1

      UniProtKB/TrEMBL
      E9PMC1
      Related
      ENSP00000432128.1, ENST00000530799.5
      Conserved Domains (1) summary
      pfam06608
      Location:32 → 165
      DUF1143; Protein of unknown function (DUF1143)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111889784..111896218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369646.1 → XP_054225621.1  cilia- and flagella-associated protein 68 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5F2.1 GenPept UniProtKB/Swiss-Prot:Q9H5F2

    Gene LinkOut

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

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