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    CFAP36 cilia and flagella associated protein 36 [ Homo sapiens (human) ]

    Gene ID: 112942, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP36provided by HGNC
    Official Full Name
    cilia and flagella associated protein 36provided by HGNC
    Primary source
    HGNC:HGNC:30540
    See related
    Ensembl:ENSG00000163001 AllianceGenome:HGNC:30540
    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
    BARTL1; CCDC104
    Summary
    Located in ciliary transition zone. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 36.7), thyroid (RPKM 18.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP36 in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55519718..55545079)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55516894..55542266)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55746854..55772215)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 221, pseudogene Neighboring gene RNA, U6 small nuclear 634, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15782 Neighboring gene protein phosphatase 4 regulatory subunit 3B Neighboring gene small nucleolar RNA SNORA12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55794160-55794660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55843714-55844639 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55844640-55845564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11500 Neighboring gene PPP4R3B divergent transcript

    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. Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo). Totland C, et al. Cancer Immunol Immunother, 2010 Feb. PMID 19680650, Free PMC Article
    2. The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function. Lokaj M, et al. Structure, 2015 Nov 3. PMID 26455799, Free PMC Article
    3. Enzymatic analysis of WWP2 E3 ubiquitin ligase using protein microarrays identifies autophagy-related substrates. Jiang H, et al. J Biol Chem, 2022 May. PMID 35331737, Free PMC Article
    4. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. Thalappilly S, et al. Proteomics, 2008 Aug. PMID 18654987
    5. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article

    See all (28) 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

    • MGC15407

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 36
    Names
    coiled-coil domain containing 104
    coiled-coil domain-containing protein 104

    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_001282761.2 → NP_001269690.1  cilia- and flagella-associated protein 36 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AY358097, BM980999, BM993564
      Consensus CDS
      CCDS62911.1
      UniProtKB/TrEMBL
      B5MCA1
      Related
      ENSP00000342699.3, ENST00000339012.7
      Conserved Domains (1) summary
      pfam11527
      Location:15 → 144
      ARL2_Bind_BART; The ARF-like 2 binding protein BART

    2. NM_080667.7 → NP_542398.3  cilia- and flagella-associated protein 36 isoform b

      See identical proteins and their annotated locations for NP_542398.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      BC010011, BM980999
      Consensus CDS
      CCDS1854.2
      UniProtKB/Swiss-Prot
      Q53SF0, Q53ST9, Q6UY34, Q96G28
      UniProtKB/TrEMBL
      B5MCA1
      Related
      ENSP00000295117.4, ENST00000349456.9
      Conserved Domains (1) summary
      pfam11527
      Location:15 → 119
      ARL2_Bind_BART; The ARF-like 2 binding protein BART

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      55519718..55545079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443086.1 → XP_047299042.1  cilia- and flagella-associated protein 36 isoform X1

    2. XM_011532499.2 → XP_011530801.1  cilia- and flagella-associated protein 36 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      55516894..55542266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340329.1 → XP_054196304.1  cilia- and flagella-associated protein 36 isoform X1

    2. XM_054340330.1 → XP_054196305.1  cilia- and flagella-associated protein 36 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96G28.2 GenPept UniProtKB/Swiss-Prot:Q96G28

    Gene LinkOut

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

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