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    CFAP100 cilia and flagella associated protein 100 [ Homo sapiens (human) ]

    Gene ID: 348807, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CFAP100provided by HGNC
    Official Full Name
    cilia and flagella associated protein 100provided by HGNC
    Primary source
    HGNC:HGNC:26842
    See related
    Ensembl:ENSG00000163885 AllianceGenome:HGNC:26842
    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
    MIA1; CCDC37
    Summary
    Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.6) and lung (RPKM 1.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP100 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126394909..126436556)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (129127425..129169110)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126113752..126155399)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126094973-126095585 Neighboring gene uncharacterized LOC107986044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126108375-126108923 Neighboring gene CFAP100 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126116648-126117157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126127425-126127925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126136999-126137896 Neighboring gene uncharacterized LOC124906280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126160086-126160721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126167171-126168110 Neighboring gene ZXD family zinc finger C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126186579-126187556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126193081-126193606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126204897-126205832 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 Neighboring gene urocanate hydratase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126216345-126217222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126229039-126229961

    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. The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility. Yamamoto R, et al. J Cell Biol, 2013 Apr 15. PMID 23569216, Free PMC Article
    2. Genome-wide analysis of DNA methylation and the gene expression change in lung cancer. Kwon YJ, et al. J Thorac Oncol, 2012 Jan. PMID 22011669
    3. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
    4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. Dart AE, et al. J Cell Biol, 2015 Nov 23. PMID 26598620, Free PMC Article
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (13) 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)

    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

    • FLJ40083, MGC120558

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in inner dynein arm assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axonemal outer doublet ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 100
    Names
    coiled-coil domain containing 37
    coiled-coil domain-containing protein 37

    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_182628.3 → NP_872434.2  cilia- and flagella-associated protein 100

      See identical proteins and their annotated locations for NP_872434.2

      Status: VALIDATED

      Source sequence(s)
      AC063919, AC073439, AK097402, BC101367
      Consensus CDS
      CCDS3037.1
      UniProtKB/Swiss-Prot
      D3DNA8, Q494V1, Q494V2, Q494V4, Q8N838
      Related
      ENSP00000344749.1, ENST00000352312.6
      Conserved Domains (1) summary
      pfam13863
      Location:151 → 269
      DUF4200; Domain of unknown function (DUF4200)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      126394909..126436556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006322.2 → XP_016861811.1  cilia- and flagella-associated protein 100 isoform X2

    2. XM_017006321.2 → XP_016861810.1  cilia- and flagella-associated protein 100 isoform X1

    3. XM_017006323.2 → XP_016861812.1  cilia- and flagella-associated protein 100 isoform X3

    4. XM_017006325.2 → XP_016861814.1  cilia- and flagella-associated protein 100 isoform X4

    5. XM_017006327.2 → XP_016861816.1  cilia- and flagella-associated protein 100 isoform X6

    6. XM_017006326.2 → XP_016861815.1  cilia- and flagella-associated protein 100 isoform X5

    RNA

    1. XR_007095676.1 RNA Sequence

    2. XR_001740141.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      129127425..129169110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346443.1 → XP_054202418.1  cilia- and flagella-associated protein 100 isoform X2

    2. XM_054346442.1 → XP_054202417.1  cilia- and flagella-associated protein 100 isoform X1

    3. XM_054346444.1 → XP_054202419.1  cilia- and flagella-associated protein 100 isoform X3

    4. XM_054346445.1 → XP_054202420.1  cilia- and flagella-associated protein 100 isoform X4

    5. XM_054346447.1 → XP_054202422.1  cilia- and flagella-associated protein 100 isoform X6

    6. XM_054346446.1 → XP_054202421.1  cilia- and flagella-associated protein 100 isoform X5

    RNA

    1. XR_008486713.1 RNA Sequence

    2. XR_008486714.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q494V2.1 GenPept UniProtKB/Swiss-Prot:Q494V2

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

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