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

Gene ID: 112942, updated on 4-May-2020

Summary

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
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
Expression
Broad expression in testis (RPKM 36.7), thyroid (RPKM 18.8) and 24 other tissues See more
Orthologs

Genomic context

See CFAP36 in Genome Data Viewer
Location:
2p16.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (55519595..55545080)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55746740..55772216)

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 protein phosphatase 4 regulatory subunit 3B Neighboring gene uncharacterized LOC107985885

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15407

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein N-terminus binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary base IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary base IEA
Inferred from Electronic Annotation
more info
 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001282761.1NP_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, DB448836
    Consensus CDS
    CCDS62911.1
    UniProtKB/Swiss-Prot
    Q96G28
    Related
    ENSP00000342699.3, ENST00000339012.7
    Conserved Domains (1) summary
    pfam11527
    Location:15144
    ARL2_Bind_BART; The ARF-like 2 binding protein BART
  2. NM_080667.7NP_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
    Q96G28
    Related
    ENSP00000295117.4, ENST00000349456.8
    Conserved Domains (1) summary
    pfam11527
    Location:15119
    ARL2_Bind_BART; The ARF-like 2 binding protein BART

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    55519595..55545080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003254.1XP_016858743.1  cilia- and flagella-associated protein 36 isoform X1

  2. XM_017003255.1XP_016858744.1  cilia- and flagella-associated protein 36 isoform X1

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

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