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

Gene ID: 112942, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 36.7), thyroid (RPKM 18.8) and 24 other tissues See more
Orthologs
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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 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)

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

  • MGC15407

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 biological_process ND
No biological Data available
more info
  
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

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Chemical Information
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