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    CWC25 CWC25 spliceosome associated protein homolog [ Homo sapiens (human) ]

    Gene ID: 54883, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CWC25provided by HGNC
    Official Full Name
    CWC25 spliceosome associated protein homologprovided by HGNC
    Primary source
    HGNC:HGNC:25989
    See related
    Ensembl:ENSG00000273559 AllianceGenome:HGNC:25989
    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
    CCDC49
    Summary
    This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in bone marrow (RPKM 26.7), testis (RPKM 10.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CWC25 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38800441..38825321, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39663526..39688404, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36956694..36981574, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 866, pseudogene Neighboring gene proteasome 20S subunit beta 3 Neighboring gene phosphatidylinositol-5-phosphate 4-kinase type 2 beta Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36954986-36955804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36980282-36980913 Neighboring gene microRNA 4727 Neighboring gene sperm microtubule associated protein 1

    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. The evolutionarily conserved core design of the catalytic activation step of the yeast spliceosome. Fabrizio P, et al. Mol Cell, 2009 Nov 25. PMID 19941820
    2. Structure of a human catalytic step I spliceosome. Zhan X, et al. Science, 2018 Feb 2. PMID 29301961
    3. A comprehensive resource of interacting protein regions for refining human transcription factor networks. Miyamoto-Sato E, et al. PLoS One, 2010 Feb 24. PMID 20195357, Free PMC Article
    4. SLFN11 promotes CDT1 degradation by CUL4 in response to replicative DNA damage, while its absence leads to synthetic lethality with ATR/CHK1 inhibitors. Jo U, et al. Proc Natl Acad Sci U S A, 2021 Feb 9. PMID 33536335, Free PMC Article
    5. Mutual regulation between OGT and XIAP to control colon cancer cell growth and invasion. Seo HG, et al. Cell Death Dis, 2020 Sep 29. PMID 32994395, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20291, DKFZp779M0968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    		  
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pre-mRNA-splicing factor CWC25 homolog
    Names
    coiled-coil domain-containing protein 49

    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.

    mRNA and Protein(s)

    1. NM_017748.5 → NP_060218.1  pre-mRNA-splicing factor CWC25 homolog

      See identical proteins and their annotated locations for NP_060218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the supported protein.
      Source sequence(s)
      AC006449, AW612704, BC008833
      Consensus CDS
      CCDS45663.1
      UniProtKB/Swiss-Prot
      A0JLM3, Q68DK5, Q9NXE8
      UniProtKB/TrEMBL
      B4DJK2
      Related
      ENSP00000478070.1, ENST00000614790.5
      Conserved Domains (2) summary
      pfam10197
      Location:11 → 37
      Cir_N; N-terminal domain of CBF1 interacting co-repressor CIR
      pfam12542
      Location:67 → 157
      CWC25; Pre-mRNA splicing factor

    RNA

    1. NR_073428.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006449, AK296115, AW612704, HY021361

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38800441..38825321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007065311.1 RNA Sequence

    2. XR_007065312.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2835760..2860640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485632.1 RNA Sequence

    2. XR_008485633.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39663526..39688404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484847.1 RNA Sequence

    2. XR_008484848.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXE8.1 GenPept UniProtKB/Swiss-Prot:Q9NXE8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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