Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CWF19L1 Gene

Aliases for CWF19L1 Gene

  • CWF19-Like 1, Cell Cycle Control (S. Pombe) 2 3 5
  • C19L1 3 4
  • CWF19-Like 1 Cell Cycle Control 3
  • CWF19-Like Protein 1 3
  • SCAR17 3
  • HDrn1 3

External Ids for CWF19L1 Gene

Previous GeneCards Identifiers for CWF19L1 Gene

  • GC10M101657
  • GC10M101982
  • GC10M095621

Summaries for CWF19L1 Gene

Entrez Gene Summary for CWF19L1 Gene

  • This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for CWF19L1 Gene

CWF19L1 (CWF19-Like 1, Cell Cycle Control (S. Pombe)) is a Protein Coding gene. Diseases associated with CWF19L1 include Spinocerebellar Ataxia, Autosomal Recessive 17 and Autosomal Recessive Cerebellar Ataxia. An important paralog of this gene is CWF19L2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CWF19L1 Gene

Genomics for CWF19L1 Gene

Regulatory Elements for CWF19L1 Gene

Enhancers for CWF19L1 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
GH10F100266 1.1 ENCODE 50.7 +0.1 146 1.8 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 SP3 CWF19L1 BLOC1S2 ENSG00000272572 RNU6-422P
GH10F100178 1.4 FANTOM5 ENCODE 25.7 +84.5 84510 8.7 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 BLOC1S2 CWF19L1 EBAG9P1 ERLIN1 ENSG00000236308 ENSG00000272572 CHUK DNMBP SPCS2P2
GH10F100283 1.4 Ensembl ENCODE 23.4 -18.4 -18430 6.2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263 BLOC1S2 CWF19L1 RNU6-422P ERLIN1
GH10F100043 1.2 Ensembl ENCODE 17 +222.7 222735 3.7 HDGF PKNOX1 INSM2 RAD21 ZEB1 GTF3C2 POLR3A ZNF143 ZNF207 ZNF391 EBAG9P1 CWF19L1 PHBP9 ENTPD7 HIF1AN DNMBP CPN1
GH10F100038 1.1 Ensembl ENCODE 15.5 +228.8 228811 1.7 ELF3 DRAP1 ARID4B DMAP1 EBF1 THRB ZNF644 TEAD3 YY1 ZNF121 CWF19L1 DNMBP CPN1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CWF19L1 on UCSC Golden Path with GeneCards custom track

Promoters for CWF19L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006418 281 2001 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 SP3 NFYC

Genomic Location for CWF19L1 Gene

Chromosome:
10
Start:
100,232,296 bp from pter
End:
100,267,681 bp from pter
Size:
35,386 bases
Orientation:
Minus strand

Genomic View for CWF19L1 Gene

Genes around CWF19L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CWF19L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CWF19L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CWF19L1 Gene

Proteins for CWF19L1 Gene

  • Protein details for CWF19L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q69YN2-C19L1_HUMAN
    Recommended name:
    CWF19-like protein 1
    Protein Accession:
    Q69YN2
    Secondary Accessions:
    • B4DHX1
    • D3DR66
    • Q5W0I3
    • Q96HC3
    • Q9H865
    • Q9NV13

    Protein attributes for CWF19L1 Gene

    Size:
    538 amino acids
    Molecular mass:
    60619 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH72402.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CWF19L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CWF19L1 Gene

Post-translational modifications for CWF19L1 Gene

  • Ubiquitination at Lys 483
  • Modification sites at PhosphoSitePlus

Other Protein References for CWF19L1 Gene

No data available for DME Specific Peptides for CWF19L1 Gene

Domains & Families for CWF19L1 Gene

Suggested Antigen Peptide Sequences for CWF19L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q69YN2

UniProtKB/Swiss-Prot:

C19L1_HUMAN :
  • Belongs to the CWF19 family.
Family:
  • Belongs to the CWF19 family.
genes like me logo Genes that share domains with CWF19L1: view

No data available for Gene Families for CWF19L1 Gene

Function for CWF19L1 Gene

Gene Ontology (GO) - Molecular Function for CWF19L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with CWF19L1: view
genes like me logo Genes that share phenotypes with CWF19L1: view

Human Phenotype Ontology for CWF19L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CWF19L1 Gene

Localization for CWF19L1 Gene

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 CWF19L1 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CWF19L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CWF19L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CWF19L1 Gene

Pathways & Interactions for CWF19L1 Gene

SuperPathways for CWF19L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CWF19L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CWF19L1: view

No data available for Pathways by source and SIGNOR curated interactions for CWF19L1 Gene

Transcripts for CWF19L1 Gene

Unigene Clusters for CWF19L1 Gene

CWF19-like 1, cell cycle control (S. pombe):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CWF19L1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^
SP1: - - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10: - - - - -
SP11:

ExUns: 13a · 13b ^ 14 ^ 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CWF19L1 Gene

GeneLoc Exon Structure for
CWF19L1
ECgene alternative splicing isoforms for
CWF19L1

Expression for CWF19L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CWF19L1 Gene

mRNA differential expression in normal tissues according to GTEx for CWF19L1 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for CWF19L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.4) and CD8 Tcells (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CWF19L1 Gene



Protein tissue co-expression partners for CWF19L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CWF19L1 Gene:

CWF19L1

SOURCE GeneReport for Unigene cluster for CWF19L1 Gene:

Hs.215502

mRNA Expression by UniProt/SwissProt for CWF19L1 Gene:

Q69YN2-C19L1_HUMAN
Tissue specificity: Expressed in many brain regions, including cerebellum, thalamus and occipital, parietal and temporal lobes (at protein level). Also expressed in the spinal cord (at protein level).
genes like me logo Genes that share expression patterns with CWF19L1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CWF19L1 Gene

Orthologs for CWF19L1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CWF19L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CWF19L1 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia CWF19L1 34 35
  • 93.61 (n)
cow
(Bos Taurus)
Mammalia CWF19L1 34 35
  • 92.75 (n)
rat
(Rattus norvegicus)
Mammalia Cwf19l1 34
  • 88.45 (n)
mouse
(Mus musculus)
Mammalia Cwf19l1 34 16 35
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia CWF19L1 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CWF19L1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CWF19L1 34 35
  • 68.28 (n)
lizard
(Anolis carolinensis)
Reptilia CWF19L1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487964 34
  • 68.84 (n)
Str.4103 34
African clawed frog
(Xenopus laevis)
Amphibia MGC53307 34
zebrafish
(Danio rerio)
Actinopterygii cwf19l1 34 35
  • 64.23 (n)
sbcb1004 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007102 34
  • 49.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7741 34 35
  • 47.71 (n)
worm
(Caenorhabditis elegans)
Secernentea F17A9.2 34 35
  • 50.32 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 22 (a)
OneToMany
DRN1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G56900 34
  • 48.08 (n)
rice
(Oryza sativa)
Liliopsida Os09g0364000 34
  • 45.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1005 35
  • 39 (a)
OneToOne
Species where no ortholog for CWF19L1 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CWF19L1 Gene

ENSEMBL:
Gene Tree for CWF19L1 (if available)
TreeFam:
Gene Tree for CWF19L1 (if available)

Paralogs for CWF19L1 Gene

Paralogs for CWF19L1 Gene

genes like me logo Genes that share paralogs with CWF19L1: view

Variants for CWF19L1 Gene

Sequence variations from dbSNP and Humsavar for CWF19L1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs587780326 Pathogenic 100,245,798(-) ACCTC(A/G)TAAGT splice-donor-variant
rs879255653 Pathogenic 100,245,817(-) ATCCA(A/T)AGCAG reference, stop-gained
rs879255654 Pathogenic 100,256,299(-) ATCCC(-/C)ATGGC intron-variant, reference, frameshift-variant
rs17112787 Likely benign 100,246,924(+) CTGAA(C/T)GCGTA reference, synonymous-codon, utr-variant-5-prime
rs2270962 Likely benign 100,256,287(-) CAAGT(A/G)TGTGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CWF19L1 Gene

Variant ID Type Subtype PubMed ID
nsv948166 CNV duplication 23825009
nsv516860 CNV loss 19592680
nsv1043825 CNV loss 25217958
esv2761622 CNV loss 21179565

Variation tolerance for CWF19L1 Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.95; 91.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CWF19L1 Gene

Human Gene Mutation Database (HGMD)
CWF19L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWF19L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CWF19L1 Gene

Disorders for CWF19L1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CWF19L1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 17
  • autosomal recessive spinocerebellar ataxia 17
autosomal recessive cerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C19L1_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17) [MIM:616127]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability. {ECO:0000269 PubMed:25361784}. Note=The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation has been reported that affects an intronic splice donor site and causes exon 9 skipping, this leads to an out-of-frame stop codon after 60 aberrant amino acids. Patients carrying this mutation exhibit much lower mRNA and protein levels compared to unaffected controls, probably due to mRNA nonsense-mediated decay (PubMed:25361784). {ECO:0000269 PubMed:25361784}.

Relevant External Links for CWF19L1

Genetic Association Database (GAD)
CWF19L1
Human Genome Epidemiology (HuGE) Navigator
CWF19L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CWF19L1
genes like me logo Genes that share disorders with CWF19L1: view

No data available for Genatlas for CWF19L1 Gene

Publications for CWF19L1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 64
  2. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. (PMID: 25361784) Burns R. … Burmeister M. (Neurology 2014) 3 4 64
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  5. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. (PMID: 26197978) Nguyen M. … Smeets H.J. (Eur. J. Hum. Genet. 2016) 3 64

Products for CWF19L1 Gene

Sources for CWF19L1 Gene

Content
Loading form....