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

Aliases for CWF19L1 Gene

Aliases for CWF19L1 Gene

  • CWF19 Like Cell Cycle Control Factor 1 2 3 5
  • CWF19-Like Protein 1 3 4
  • C19L1 3 4
  • CWF19 Like 1, Cell Cycle Control (S. Pombe) 2
  • CWF19 Like 1, Cell Cycle Control 3
  • CWF19-Like 1 Cell Cycle Control 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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for CWF19L1 Gene

CWF19L1 (CWF19 Like Cell Cycle Control Factor 1) 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.

Additional gene information for CWF19L1 Gene

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

Genomics for CWF19L1 Gene

GeneHancer (GH) Regulatory Elements for CWF19L1 Gene

Promoters and enhancers for CWF19L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J100266 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.6 +0.3 281 2.8 MTA3 SP1 ELF3 NKRF MLLT1 CEBPG SP7 ELF1 POLR2A CREM CWF19L1 CHUK BLOC1S2 PHBP9 ENSG00000236308 EBAG9P1 DNMBP RNU6-422P
GH10J100283 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33.3 -18.8 -18803 5.5 ELF3 NKRF POLR2A MLLT1 ZNF121 GTF2F1 ZNF687 ZSCAN21 MAFK ZBTB7A BLOC1S2 CWF19L1 RNU6-422P SLC25A28 LZTS2 ERLIN1 PKD2L1
GH10J100178 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.7 +84.5 84465 8.8 MTA3 ZNF652 ZFX ELF3 MNT NKRF POLR2A CEBPG RERE ZNF687 ERLIN1 BLOC1S2 EBAG9P1 CWF19L1 MRPL43 ENSG00000236308 PHBP9 CHUK ENSG00000272572 ENSG00000224934
GH10J099617 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.3 +647.7 647747 5.6 HDGF ZNF652 SP1 ZFX ELF3 MNT NKRF POLR2A ZNF121 CEBPG SLC25A28 ENSG00000260475 CWF19L1 CHUK PHBP9 EBAG9P1 ENSG00000236308 DNMBP NKX2-3 CUTC
GH10J100228 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.5 +38.6 38580 2.6 CTCF ZFX ELF3 NKRF POLR2A ZNF121 CSDE1 ZNF687 ZSCAN21 CDC5L CHUK ENSG00000227492 BLOC1S2 EBAG9P1 MRPL43 CWF19L1 SLC25A28 PHBP9 LZTS2 ENSG00000236308
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CWF19L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CWF19L1 gene promoter:
  • aMEF-2
  • ATF-2
  • CUTL1
  • Elk-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • FOXO4
  • MEF-2A
  • YY1

Genomic Locations for CWF19L1 Gene

Genomic Locations for CWF19L1 Gene
chr10:100,232,296-100,267,681
(GRCh38/hg38)
Size:
35,386 bases
Orientation:
Minus strand
chr10:101,992,055-102,027,437
(GRCh37/hg19)
Size:
35,383 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

    Alternative splice isoforms for CWF19L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CWF19L1 Gene

Post-translational modifications for CWF19L1 Gene

  • Ubiquitination at posLast=483483
  • Modification sites at PhosphoSitePlus

Other Protein References for CWF19L1 Gene

Antibody Products

  • Abcam antibodies for CWF19L1

No data available for DME Specific Peptides for CWF19L1 Gene

Domains & Families for CWF19L1 Gene

Gene Families for CWF19L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CWF19L1 Gene

Suggested Antigen Peptide Sequences for CWF19L1 Gene

GenScript: Design optimal peptide antigens:
  • CWF19-like protein 1 (C19L1_HUMAN)
  • CWF19-like 1, cell cycle control (S. pombe), isoform CRA_d (D3DR67_HUMAN)

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

Function for CWF19L1 Gene

Phenotypes From GWAS Catalog 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:0061632 RNA lariat debranching enzyme activator activity IBA 21873635
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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for CWF19L1 - Now 50% OFF >
  • * CWF19L1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CWF19L1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CWF19L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0071014 post-mRNA release spliceosomal complex IBA 21873635
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

PathCards logo

SuperPathways for CWF19L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CWF19L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA 21873635
GO:0008150 biological_process ND --
GO:0043085 positive regulation of catalytic activity 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:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for CWF19L1 - Now 50% OFF >
  • * CWF19L1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CWF19L1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 CGAP 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, 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).

Evidence on tissue expression from TISSUES for CWF19L1 Gene

  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CWF19L1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CWF19L1: view

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 35 34
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CWF19L1 35 34
  • 93.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CWF19L1 35 34
  • 92.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cwf19l1 34
  • 88.45 (n)
mouse
(Mus musculus)
Mammalia Cwf19l1 17 35 34
  • 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 35 34
  • 68.28 (n)
OneToOne
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 35 34
  • 64.23 (n)
OneToOne
sbcb1004 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007102 34
  • 49.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7741 35 34
  • 47.71 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F17A9.2 35 34
  • 50.32 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for CWF19L1: view image

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 Variation AA Info Type
rs1554902760 likely-pathogenic, Spinocerebellar ataxia, autosomal recessive 17 100,238,126(-) C/A coding_sequence_variant, stop_gained
rs2270962 likely-benign, not specified, - 100,256,287(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs587780326 pathogenic, not provided, Spinocerebellar ataxia, autosomal recessive 17 100,245,798(-) C/T splice_donor_variant
rs7073610 likely-benign, not specified, - 100,246,868(-) G/A coding_sequence_variant, missense_variant
rs746710766 uncertain-significance, Spinocerebellar ataxia, autosomal recessive 17 100,233,287(-) CTCCTC/CTC coding_sequence_variant, inframe_deletion

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

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

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)

Additional Variant Information for CWF19L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWF19L1
Human Gene Mutation Database (HGMD)
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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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}.

Additional Disease Information for CWF19L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (Nature genetics 2004) 2 3 4 58
  2. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. (PMID: 25361784) Burns R … Burmeister M (Neurology 2014) 3 4 58
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 45 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CWF19L1 Gene

Sources for CWF19L1 Gene

Content
Loading form....