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    CWF19L1 CWF19 like cell cycle control factor 1 [ Homo sapiens (human) ]

    Gene ID: 55280, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CWF19L1provided by HGNC
    Official Full Name
    CWF19 like cell cycle control factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25613
    See related
    Ensembl:ENSG00000095485 MIM:616120; AllianceGenome:HGNC:25613
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C19L1; hDrn1; SCAR17
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.4), testis (RPKM 8.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CWF19L1 in Genome Data Viewer
    Location:
    10q24.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100232298..100267638, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101116556..101151894, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101992055..102027395, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2702 Neighboring gene ER lipid raft associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3883 Neighboring gene component of inhibitor of nuclear factor kappa B kinase complex Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3884 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:101990400-101990662 Neighboring gene CHUK divergent transcript Neighboring gene small nucleolar RNA, H/ACA box 12 Neighboring gene PHB1 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3885 Neighboring gene RNA, U6 small nuclear 422, pseudogene Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:102045671-102046178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2705 Neighboring gene polycystin 2 like 1, transient receptor potential cation channel Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3887

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Evers C, et al. Am J Med Genet A, 2016 Jun. PMID 27016154
    2. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. Nguyen M, et al. Eur J Hum Genet, 2016 Apr. PMID 26197978, Free PMC Article
    3. Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17. Phulpagar P, et al. J Hum Genet, 2023 Dec. PMID 37752213
    4. Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Alvarez C, et al. Clin Genet, 2023 May. PMID 36453471
    5. Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17. Ruan M, et al. J Clin Lab Anal, 2022 Dec. PMID 36357319, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
      Title: Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
    2. Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
      Title: Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
    3. Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
      Title: Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
    4. A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
      Title: A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
    5. Our report corroborates that loss-of-function mutations in CWF19Ll lead to early onset cerebellar ataxia and (progressive) cerebellar atrophy.
      Title: Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    6. Two pathogenic variants in CWF19L1 were identified in a patient with autosomal recessive cerebellar ataxia. c.37G>C variant was inherited from the father and the c.946A>T variant from the mother.
      Title: Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
    7. Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1.
      Title: Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.
    8. CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay
      Title: Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
    9. Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation.
      Title: The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive spinocerebellar ataxia 17
    MedGen: C4015301 OMIM: 616127 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10998

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA lariat debranching enzyme activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    CWF19-like protein 1
    Names
    CWF19 like 1, cell cycle control
    CWF19-like 1 cell cycle control
    human Dbr1 associated ribonuclease 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041811.1 RefSeqGene

      Range
      5044..40384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303404.2 → NP_001290333.1  CWF19-like protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AK001860, AK097895, AK225590, AK295303, BM476132, DB524268, DC299678
      UniProtKB/Swiss-Prot
      Q69YN2
      Conserved Domains (3) summary
      cd07380
      Location:9 → 229
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:422 → 495
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:328 → 427
      HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

    2. NM_001303405.2 → NP_001290334.1  CWF19-like protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001290334.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5'-terminal exon, which results in use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AK097895, AL832515, BM476132, DB524268, DC299678
      UniProtKB/Swiss-Prot
      Q69YN2
      Conserved Domains (3) summary
      cd07380
      Location:10 → 92
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:310 → 398
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:191 → 286
      HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

    3. NM_001303406.2 → NP_001290335.1  CWF19-like protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001290335.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, lacks part of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AK097895, AK295303, BM476132, DB524268
      UniProtKB/Swiss-Prot
      Q69YN2
      Conserved Domains (3) summary
      cd07380
      Location:10 → 92
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:310 → 398
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:191 → 286
      HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

    4. NM_001303407.2 → NP_001290336.1  CWF19-like protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001290336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR, lacks part of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK097895, BM476132, DB524268
      Conserved Domains (2) summary
      pfam04676
      Location:202 → 290
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:83 → 178
      HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

    5. NM_018294.6 → NP_060764.3  CWF19-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060764.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK001860, AK097895, BM476132, DB524268, DC299678
      Consensus CDS
      CCDS7489.1
      UniProtKB/Swiss-Prot
      B4DHX1, D3DR66, Q5W0I3, Q69YN2, Q96HC3, Q9H865, Q9NV13
      UniProtKB/TrEMBL
      A0A0S2Z5E9
      Related
      ENSP00000326411.6, ENST00000354105.10
      Conserved Domains (3) summary
      cd07380
      Location:9 → 229
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:447 → 535
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:328 → 423
      HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      100232298..100267638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101116556..101151894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69YN2.2 GenPept UniProtKB/Swiss-Prot:Q69YN2

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