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Aliases for CWF19L1 Gene

Aliases for CWF19L1 Gene

  • CWF19-Like 1, Cell Cycle Control (S. Pombe) 2 3
  • C19L1 3 4
  • SCAR17 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 spinocerebellar ataxia 17. 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

Genomic Location for CWF19L1 Gene

100,232,296 bp from pter
100,267,681 bp from pter
35,386 bases
Minus strand

Genomic View for CWF19L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Recommended name:
    CWF19-like protein 1
    Protein Accession:
    Secondary Accessions:
    • B4DHX1
    • D3DR66
    • Q5W0I3
    • Q96HC3
    • Q9H865
    • Q9NV13

    Protein attributes for CWF19L1 Gene

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

    Alternative splice isoforms for CWF19L1 Gene


neXtProt entry for CWF19L1 Gene

Proteomics data for CWF19L1 Gene at MOPED

Post-translational modifications for CWF19L1 Gene

  • Ubiquitination at Lys 483
  • Modification sites at PhosphoSitePlus

Other Protein References for CWF19L1 Gene

Antibody Products

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



  • Belongs to the CWF19 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

Phenotypes for CWF19L1 Gene

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

Animal Model Products

CRISPR 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

Jensen Localization Image for CWF19L1 Gene COMPARTMENTS Subcellular localization image for CWF19L1 gene
Compartment Confidence
golgi apparatus 2
nucleus 2

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 --
GO:0008152 metabolic process IEA --
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

Drugs & Compounds for CWF19L1 Gene

No Compound Related Data Available

Transcripts for CWF19L1 Gene

Unigene Clusters for CWF19L1 Gene

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

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: - - - - -

ExUns: 13a · 13b ^ 14 ^ 15 ^ 16

Relevant External Links for CWF19L1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CWF19L1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CWF19L1 Gene

SOURCE GeneReport for Unigene cluster for CWF19L1 Gene Hs.215502

mRNA Expression by UniProt/SwissProt for CWF19L1 Gene

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

Protein tissue co-expression partners for CWF19L1 Gene

- Elite partner

Primer Products

In Situ Assay 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
(Bos Taurus)
Mammalia CWF19L1 35
  • 92.75 (n)
  • 94.24 (a)
CWF19L1 36
  • 94 (a)
(Canis familiaris)
Mammalia CWF19L1 35
  • 93.61 (n)
  • 94.41 (a)
CWF19L1 36
  • 94 (a)
(Mus musculus)
Mammalia Cwf19l1 35
  • 88.08 (n)
  • 89.39 (a)
Cwf19l1 16
Cwf19l1 36
  • 89 (a)
(Pan troglodytes)
Mammalia CWF19L1 35
  • 99.63 (n)
  • 99.07 (a)
CWF19L1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cwf19l1 35
  • 88.45 (n)
  • 89.94 (a)
(Monodelphis domestica)
Mammalia CWF19L1 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia CWF19L1 36
  • 79 (a)
(Gallus gallus)
Aves CWF19L1 35
  • 68.28 (n)
  • 71.27 (a)
CWF19L1 36
  • 71 (a)
(Anolis carolinensis)
Reptilia CWF19L1 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487964 35
  • 68.84 (n)
  • 69.83 (a)
Str.4103 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53307 35
(Danio rerio)
Actinopterygii cwf19l1 35
  • 64.23 (n)
  • 66.1 (a)
sbcb1004 35
cwf19l1 36
  • 65 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007102 35
  • 49.02 (n)
  • 38.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7741 35
  • 47.71 (n)
  • 40.39 (a)
CG7741 36
  • 36 (a)
(Caenorhabditis elegans)
Secernentea F17A9.2 35
  • 50.32 (n)
  • 44.23 (a)
F17A9.2 36
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 22 (a)
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G56900 35
  • 48.08 (n)
  • 39.33 (a)
(Oryza sativa)
Liliopsida Os09g0364000 35
  • 45.29 (n)
  • 34.11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1005 36
  • 39 (a)
Species with no ortholog for CWF19L1:
  • 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

Gene Tree for CWF19L1 (if available)
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 MAF
rs15620 -- 100,232,437(+) tgaga(C/T)ggagt utr-variant-3-prime
rs15663 -- 100,233,121(+) cctgc(C/T)tgggt utr-variant-3-prime
rs283745 -- 100,266,572(+) tgcag(A/T)ggtgc intron-variant
rs283746 -- 100,266,641(+) ctccc(A/G)agtag intron-variant
rs283747 -- 100,266,653(+) tggga(C/T)tacag intron-variant

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

Variant ID Type Subtype PubMed ID
nsv895922 CNV Loss 21882294
nsv516860 CNV Loss 19592680

Variation tolerance for CWF19L1 Gene

Residual Variation Intolerance Score: 42.98% 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

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 17
  • spinocerebellar ataxia, autosomal recessive, 17
spinocerebellar ataxia 17
  • spinocerebellar ataxia type 17
- elite association


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein. (PMID: 25671812) Masaki S. … Kataoka N. (Int J Mol Sci 2015) 67
  4. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. (PMID: 25361784) Burns R. … Burmeister M. (Neurology 2014) 67
  5. Proteomic investigation of the interactome of FMNL1 in hematopoietic cells unveils a role in calcium-dependent membrane plasticity. (PMID: 23182705) Han Y. … Krackhardt A.M. (J Proteomics 2013) 67

Products for CWF19L1 Gene

Sources for CWF19L1 Gene

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