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

Gene ID: 55280, updated on 27-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
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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
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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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