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

    Gene ID: 55280, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    part_of post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001303404.2NP_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:9229
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:422495
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:328427
      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_001303405.2NP_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:1092
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:310398
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:191286
      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_001303406.2NP_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:1092
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:310398
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:191286
      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_001303407.2NP_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:202290
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:83178
      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_018294.6NP_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:9229
      MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
      pfam04676
      Location:447535
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:328423
      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)