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Aliases for C21orf59 Gene

Aliases for C21orf59 Gene

  • Chromosome 21 Open Reading Frame 59 2 3
  • C21orf48 3 4
  • CILD26 3 6
  • Prostate Cancer Upregulated Protein 1 3
  • Chromosome 21 Open Reading Frame 48 2
  • UPF0769 Protein C21orf59 3
  • C21ORF59 6
  • FBB18 3

External Ids for C21orf59 Gene

Previous Symbols for C21orf59 Gene

  • C21orf48

Summaries for C21orf59 Gene

Entrez Gene Summary for C21orf59 Gene

  • This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

GeneCards Summary for C21orf59 Gene

C21orf59 (Chromosome 21 Open Reading Frame 59) is a Protein Coding gene. Diseases associated with C21orf59 include ciliary dyskinesia, primary, 26 and prostate cancer. An important paralog of this gene is ENSG00000265590.

UniProtKB/Swiss-Prot for C21orf59 Gene

  • May play a role in motile cilia function, possibly by acting on dynein arm assembly.

Gene Wiki entry for C21orf59 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C21orf59 Gene

Genomics for C21orf59 Gene

Genomic Location for C21orf59 Gene

Start:
32,592,079 bp from pter
End:
32,612,866 bp from pter
Size:
20,788 bases
Orientation:
Minus strand

Genomic View for C21orf59 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C21orf59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf59 Gene

Regulatory Elements for C21orf59 Gene

Proteins for C21orf59 Gene

  • Protein details for C21orf59 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57076-CU059_HUMAN
    Recommended name:
    UPF0769 protein C21orf59
    Protein Accession:
    P57076
    Secondary Accessions:
    • Q53FH0

    Protein attributes for C21orf59 Gene

    Size:
    290 amino acids
    Molecular mass:
    33224 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C21orf59 Gene

Proteomics data for C21orf59 Gene at MOPED

Post-translational modifications for C21orf59 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys210 and Lys276

Other Protein References for C21orf59 Gene

No data available for DME Specific Peptides for C21orf59 Gene

Domains for C21orf59 Gene

Protein Domains for C21orf59 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CU059_HUMAN
Family:
  • Belongs to the UPF0769 family.:
    • P57076
genes like me logo Genes that share domains with C21orf59: view

No data available for Gene Families for C21orf59 Gene

Function for C21orf59 Gene

Molecular function for C21orf59 Gene

UniProtKB/Swiss-Prot Function: May play a role in motile cilia function, possibly by acting on dynein arm assembly.

miRNA for C21orf59 Gene

miRTarBase miRNAs that target C21orf59

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for C21orf59 Gene

Localization for C21orf59 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C21orf59 Gene

Cytoplasm. Note=Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C21orf59 Gene COMPARTMENTS Subcellular localization image for C21orf59 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C21orf59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16780588
GO:0005829 cytosol IDA 16780588
genes like me logo Genes that share ontologies with C21orf59: view

Pathways for C21orf59 Gene

SuperPathways for C21orf59 Gene

No Data Available

Interacting Proteins for C21orf59 Gene

Gene Ontology (GO) - Biological Process for C21orf59 Gene

None

No data available for Pathways by source for C21orf59 Gene

Transcripts for C21orf59 Gene

Unigene Clusters for C21orf59 Gene

Chromosome 21 open reading frame 59:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf59 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: -
SP4: - -
SP5: - -
SP6: - - -
SP7:

Relevant External Links for C21orf59 Gene

GeneLoc Exon Structure for
C21orf59
ECgene alternative splicing isoforms for
C21orf59

Expression for C21orf59 Gene

mRNA expression in normal human tissues for C21orf59 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C21orf59 Gene

SOURCE GeneReport for Unigene cluster for C21orf59 Gene Hs.5811

genes like me logo Genes that share expressions with C21orf59: view

Orthologs for C21orf59 Gene

This gene was present in the common ancestor of animals.

Orthologs for C21orf59 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf59 36
  • 99.31 (n)
  • 99.66 (a)
C21orf59 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1H21orf59 36
  • 89.77 (n)
  • 92.76 (a)
dog
(Canis familiaris)
Mammalia C21orf59 37
  • 91 (a)
OneToOne
C31H21orf59 36
  • 88.51 (n)
  • 91.38 (a)
mouse
(Mus musculus)
Mammalia 1110004E09Rik 36
  • 84.37 (n)
  • 92.41 (a)
1110004E09Rik 16
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1306954 36
  • 84.14 (n)
  • 91.03 (a)
chicken
(Gallus gallus)
Aves C1H21ORF59 36
  • 74.94 (n)
  • 77.93 (a)
C1H21ORF59 37
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.4468 36
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf59 36
  • 70.92 (n)
  • 73.1 (a)
Str.11895 36
zebrafish
(Danio rerio)
Actinopterygii C10H21orf59 37
  • 72 (a)
OneToMany
c21orf59 36
  • 69.89 (n)
  • 73.1 (a)
sbcb615 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002817 36
  • 57.87 (n)
  • 58.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18675 36
  • 55.29 (n)
  • 49.66 (a)
CG18675 37
  • 49 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1942 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7348 37
  • 63 (a)
OneToMany
Species with no ortholog for C21orf59:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C21orf59 Gene

ENSEMBL:
Gene Tree for C21orf59 (if available)
TreeFam:
Gene Tree for C21orf59 (if available)

Paralogs for C21orf59 Gene

Paralogs for C21orf59 Gene

Pseudogenes.org Pseudogenes for C21orf59 Gene

genes like me logo Genes that share paralogs with C21orf59: view

Variants for C21orf59 Gene

Sequence variations from dbSNP and Humsavar for C21orf59 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs844993 -- 32,610,691(-) TTGAG(C/G)TTCCA intron-variant
rs844994 -- 32,607,423(-) agaga(C/T)ggggt intron-variant
rs844995 -- 32,603,386(+) CAGAT(G/T)TCTCC intron-variant
rs860076 -- 32,604,587(+) GCAGG(C/G)GGAGC intron-variant
rs866412 -- 32,613,186(-) cacac(A/T)aaaat upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C21orf59 Gene

Variant ID Type Subtype PubMed ID
dgv4731n71 CNV Gain 21882294
dgv4732n71 CNV Gain 21882294

Relevant External Links for C21orf59 Gene

HapMap Linkage Disequilibrium report
C21orf59
Human Gene Mutation Database (HGMD)
C21orf59

Disorders for C21orf59 Gene

(1) OMIM Diseases for C21orf59 Gene (615494)

UniProtKB/Swiss-Prot

CU059_HUMAN
  • Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:24094744}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.
genes like me logo Genes that share disorders with C21orf59: view

Publications for C21orf59 Gene

  1. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (PMID: 24094744) Austin-Tse C. … Hildebrandt F. (Am. J. Hum. Genet. 2013) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4
  4. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PMID: 17370265) Denis N.J. … Figeys D. (Proteomics 2007) 3 4
  5. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (PMID: 17567994) Denoeud F. … Reymond A. (Genome Res. 2007) 3

Products for C21orf59 Gene

Sources for C21orf59 Gene

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