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CFAP300 cilia and flagella associated protein 300 [ Homo sapiens (human) ]

Gene ID: 85016, updated on 5-Jan-2022

Summary

Official Symbol
CFAP300provided by HGNC
Official Full Name
cilia and flagella associated protein 300provided by HGNC
Primary source
HGNC:HGNC:28188
See related
Ensembl:ENSG00000137691 MIM:618058
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
FBB5; CILD38; DNAAF17; C11orf70
Summary
Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in testis (RPKM 12.9), endometrium (RPKM 1.2) and 9 other tissues See more
Orthologs
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Genomic context

See CFAP300 in Genome Data Viewer
Location:
11q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102047409..102084554)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101918168..101955285)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene angiopoietin like 5 Neighboring gene centrosomal protein 126 Neighboring gene proline rich 21 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 535 Neighboring gene Yes1 associated transcriptional regulator Neighboring gene Sharpr-MPRA regulatory region 8516 Neighboring gene uncharacterized LOC105369460

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13040

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 300
Names
dynein axonemal assembly factor 17
uncharacterized protein C11orf70

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_001195005.2NP_001181934.1  cilia- and flagella-associated protein 300 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. This variant also differs in the 3' UTR compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AP001527, BC054869
    Consensus CDS
    CCDS53698.1
    UniProtKB/TrEMBL
    Q7Z2V0
    Related
    ENSP00000435482.1, ENST00000534360.1
    Conserved Domains (1) summary
    pfam14926
    Location:1490
    DUF4498; Domain of unknown function (DUF4498)
  2. NM_001363505.2NP_001350434.1  cilia- and flagella-associated protein 300 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001527
    Conserved Domains (1) summary
    pfam14926
    Location:14235
    DUF4498; Domain of unknown function (DUF4498)
  3. NM_032930.3NP_116319.2  cilia- and flagella-associated protein 300 isoform 1

    See identical proteins and their annotated locations for NP_116319.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform(1).
    Source sequence(s)
    AK094851, AP001527, BG700929
    Consensus CDS
    CCDS8313.2
    UniProtKB/Swiss-Prot
    Q9BRQ4
    Related
    ENSP00000414390.2, ENST00000434758.7
    Conserved Domains (1) summary
    pfam14926
    Location:14259
    DUF4498; Domain of unknown function (DUF4498)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    102047409..102084554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018454.1XP_016873943.1  cilia- and flagella-associated protein 300 isoform X2

    Conserved Domains (1) summary
    pfam14926
    Location:14162
    DUF4498; Domain of unknown function (DUF4498)
  2. XM_005271713.4XP_005271770.1  cilia- and flagella-associated protein 300 isoform X1

    Conserved Domains (1) summary
    pfam14926
    Location:14203
    DUF4498; Domain of unknown function (DUF4498)
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