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Aliases for C21orf59 Gene

Aliases for C21orf59 Gene

  • Chromosome 21 Open Reading Frame 59 2 3 5
  • C21orf48 3 4
  • Prostate Cancer Upregulated Protein 1 3
  • Chromosome 21 Open Reading Frame 48 2
  • Kurly Homolog (Zebrafish) 2
  • UPF0769 Protein C21orf59 3
  • Kurly Homolog 3
  • CILD26 3
  • FBB18 3
  • Kur 3

External Ids for C21orf59 Gene

Previous HGNC Symbols for C21orf59 Gene

  • C21orf48

Previous GeneCards Identifiers for C21orf59 Gene

  • GC21M030551
  • GC21M030634
  • GC21M032894
  • GC21M032895
  • GC21M033951
  • GC21M019383

Summaries for C21orf59 Gene

Entrez Gene Summary for C21orf59 Gene

  • This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]

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 Primary Ciliary Dyskinesia26: C21orf59-Related Primary Ciliary Dyskinesia. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C21orf59 Gene

Genomics for C21orf59 Gene

Regulatory Elements for C21orf59 Gene

Enhancers for C21orf59 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G032410 1.3 ENCODE dbSUPER 7 +199.7 199710 5.4 ATF1 SIN3A FEZF1 ZNF48 ZNF121 GLIS2 GATA2 KLF7 ZNF263 SP3 URB1 EVA1C MIS18A TCP10L URB1-AS1 ENSG00000252045 SNORA80A C21orf59 IL10RB LOC101928078
GH21G032482 0.7 dbSUPER 4.7 +129.6 129588 1.7 CTCF FOXA2 ESRRA RARA FOSL1 FOSL2 NFE2 NR2F6 FOS FOXA3 URB1-AS1 EVA1C ENSG00000252045 URB1 TCP10L C21orf59 EXOSC3P1 LOC101928078
GH21G032611 1.2 ENCODE 0.7 +0.2 228 2.5 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 EVA1C MIS18A OLIG2 LINC00846 PAXBP1-AS1 TCP10L OLIG1 C21orf59 ENSG00000265590
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C21orf59 on UCSC Golden Path with GeneCards custom track

Promoters for C21orf59 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000141456 466 2800 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for C21orf59 Gene

Chromosome:
21
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

Genes around C21orf59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C21orf59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for C21orf59 Gene

  • Ubiquitination at Lys210 and posLast=276276
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C21orf59 Gene

Domains & Families for C21orf59 Gene

Protein Domains for C21orf59 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C21orf59 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57076

UniProtKB/Swiss-Prot:

CU059_HUMAN :
  • Belongs to the UPF0769 family.
Family:
  • Belongs to the UPF0769 family.
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.

Phenotypes for C21orf59 Gene

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

Human Phenotype Ontology for C21orf59 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C21orf59 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for C21orf59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16780588
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 16780588
genes like me logo Genes that share ontologies with C21orf59: view

Pathways & Interactions for C21orf59 Gene

SuperPathways for C21orf59 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C21orf59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048858 cell projection morphogenesis IBA --
genes like me logo Genes that share ontologies with C21orf59: view

No data available for Pathways by source and SIGNOR curated interactions 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for C21orf59 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C21orf59 Gene

This gene is overexpressed in Testis (40.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C21orf59 Gene



Protein tissue co-expression partners for C21orf59 Gene

NURSA nuclear receptor signaling pathways regulating expression of C21orf59 Gene:

C21orf59

SOURCE GeneReport for Unigene cluster for C21orf59 Gene:

Hs.5811

Evidence on tissue expression from TISSUES for C21orf59 Gene

  • Nervous system(4.1)
  • Lung(2.4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with C21orf59: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C21orf59 Gene

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 C21orf59 35
  • 100 (a)
OneToOne
C21H21orf59 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia C21orf59 35
  • 91 (a)
OneToOne
C31H21orf59 34
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia C1H21orf59 34
  • 89.77 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 1110004E09Rik 34 16
  • 84.37 (n)
rat
(Rattus norvegicus)
Mammalia RGD1306954 34
  • 84.14 (n)
chicken
(Gallus gallus)
Aves C1H21ORF59 34 35
  • 74.94 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf59 34
  • 70.92 (n)
Str.11895 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4468 34
zebrafish
(Danio rerio)
Actinopterygii C10H21orf59 35
  • 72 (a)
OneToMany
c21orf59 34
  • 69.89 (n)
sbcb615 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002817 34
  • 57.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18675 34 35
  • 55.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7348 35
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1942 34
Species where no ortholog for C21orf59 was found in the sources mined by GeneCards:
  • 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
rs140727644 Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500] 32,604,237(+) AGGCA(C/T)CTTTC nc-transcript-variant, reference, missense
rs143740376 Pathogenic 32,609,853(+) CCTTC(A/G)TCCAA nc-transcript-variant, reference, stop-gained
rs202094637 Pathogenic 32,602,299(+) TGATA(A/C/G)TACAG nc-transcript-variant, reference, stop-gained
rs398122401 Pathogenic 32,601,941(-) GCCTA(-/TTTA)AACTC nc-transcript-variant, reference, frameshift-variant
rs142517552 Uncertain significance 32,604,268(+) GACAC(C/T)GGCTT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3646886 CNV gain 21293372
esv3646890 CNV loss 21293372
esv3893405 CNV gain 25118596
nsv1063676 CNV gain 25217958

Variation tolerance for C21orf59 Gene

Residual Variation Intolerance Score: 71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C21orf59 Gene

Human Gene Mutation Database (HGMD)
C21orf59
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C21orf59

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf59 Gene

Disorders for C21orf59 Gene

MalaCards: The human disease database

(10) MalaCards diseases for C21orf59 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 26
  • primary ciliary dyskinesia 26
primary ciliary dyskinesia26: c21orf59-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 26
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
eye lymphoma
  • lymphoma of eye
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for C21orf59

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C21orf59
genes like me logo Genes that share disorders with C21orf59: view

No data available for Genatlas for C21orf59 Gene

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 64
  2. c21orf59/kurly Controls Both Cilia Motility and Polarization. (PMID: 26904945) Jaffe K.M. … Burdine R.D. (Cell Rep 2016) 2 3 64
  3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  4. 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 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for C21orf59 Gene

Sources for C21orf59 Gene

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