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    Cwh43 cell wall biogenesis 43 C-terminal homolog [ Mus musculus (house mouse) ]

    Gene ID: 231293, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Cwh43provided by MGI
    Official Full Name
    cell wall biogenesis 43 C-terminal homologprovided by MGI
    Primary source
    MGI:MGI:2444131
    See related
    Ensembl:ENSMUSG00000029154 AllianceGenome:MGI:2444131
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    imds-60; C130090K23Rik
    Summary
    Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Is expressed in head mesenchyme and otic capsule. Orthologous to human CWH43 (cell wall biogenesis 43 C-terminal homolog). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in genital fat pad adult (RPKM 18.2), stomach adult (RPKM 13.1) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 C3.3; 5 38.78 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (73563394..73610778)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (73406051..73453435)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34583 Neighboring gene predicted gene, 35960 Neighboring gene STARR-seq mESC enhancer starr_13387 Neighboring gene 40S ribosomal protein S2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E153 Neighboring gene defective in cullin neddylation 1 domain containing 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deletions in CWH43 cause idiopathic normal pressure hydrocephalus. Yang HW, et al. EMBO Mol Med, 2021 Mar 5. PMID 33459505, Free PMC Article
    2. Identification of the gene imds-60 in mouse epididymis. Zhou X, et al. Acta Biochim Biophys Sin (Shanghai), 2007 Dec. PMID 18064386
    3. Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus. Yang D, et al. Proc Natl Acad Sci U S A, 2021 Aug 17. PMID 34380733, Free PMC Article
    4. CRISPR/Cas9-mediated genome editing reveals 30 testis-enriched genes dispensable for male fertility in mice†. Lu Y, et al. Biol Reprod, 2019 Aug 1. PMID 31201419, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
      Title: Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
    2. The imds-60 protein might play an important role in cell communication during sperm maturation.
      Title: Identification of the gene imds-60 in mouse epididymis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (6)  1 citation

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within membrane protein ectodomain proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromuscular process controlling balance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein modification process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    PGAP2-interacting protein
    Names
    cell wall biogenesis protein 43 C-terminal homolog

    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_001418155.1 → NP_001405084.1  PGAP2-interacting protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108828, AC134551
      Related
      ENSMUSP00000069563.7, ENSMUST00000065543.8

    2. NM_181323.3 → NP_851840.1  PGAP2-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_851840.1

      Status: VALIDATED

      Source sequence(s)
      AC108828, AC134551
      Consensus CDS
      CCDS19341.1
      UniProtKB/Swiss-Prot
      Q8CBQ1, Q91YL7
      Related
      ENSMUSP00000031040.7, ENSMUST00000031040.13
      Conserved Domains (1) summary
      pfam03372
      Location:451 → 580
      Exo_endo_phos; Endonuclease/Exonuclease/phosphatase family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      73563394..73610778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017320839.2 → XP_017176328.1  PGAP2-interacting protein isoform X1

      Conserved Domains (1) summary
      cl00490
      Location:443 → 597
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. XM_006503949.3 → XP_006504012.1  PGAP2-interacting protein isoform X2

      Conserved Domains (1) summary
      cl00490
      Location:354 → 493
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    3. XM_006503950.5 → XP_006504013.1  PGAP2-interacting protein isoform X3

    RNA

    1. XR_003955627.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YL7.1 GenPept UniProtKB/Swiss-Prot:Q91YL7

    Gene LinkOut

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

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