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    Chdh choline dehydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 218865, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Chdhprovided by MGI
    Official Full Name
    choline dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:1860776
    See related
    Ensembl:ENSMUSG00000015970 AllianceGenome:MGI:1860776
    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
    D630034H06Rik
    Summary
    Predicted to enable choline dehydrogenase activity. Predicted to be involved in glycine betaine biosynthetic process from choline. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; reproductive system; and sensory organ. Orthologous to human CHDH (choline dehydrogenase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney adult (RPKM 46.3), large intestine adult (RPKM 25.7) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Chdh in Genome Data Viewer
    Location:
    14 A3; 14 18.4 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (29730957..29762423)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (30008901..30040468)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:30823404-30823587 Neighboring gene microRNA 6947 Neighboring gene ARP8 actin-related protein 8 Neighboring gene interleukin 17 receptor B Neighboring gene predicted gene, 35449 Neighboring gene corepressor interacting with RBPJ, 1 pseudogene Neighboring gene predicted gene, 52108 Neighboring gene calcium channel, voltage-dependent, L type, alpha 1D subunit Neighboring gene predicted gene, 52106 Neighboring gene STARR-positive B cell enhancer ABC_E9404 Neighboring gene STARR-positive B cell enhancer ABC_E8551 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:31062848-31063035 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:31086233-31086416 Neighboring gene predicted gene, 18072

    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 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. Investigation of betaine as a novel psychotherapeutic for schizophrenia. Ohnishi T, et al. EBioMedicine, 2019 Jul. PMID 31255657, Free PMC Article
    2. Deletion of murine choline dehydrogenase results in diminished sperm motility. Johnson AR, et al. FASEB J, 2010 Aug. PMID 20371614, Free PMC Article
    3. Betaine is accumulated via transient choline dehydrogenase activation during mouse oocyte meiotic maturation. McClatchie T, et al. J Biol Chem, 2017 Aug 18. PMID 28663368, Free PMC Article
    4. Evi27 encodes a novel membrane protein with homology to the IL17 receptor. Tian E, et al. Oncogene, 2000 Apr 20. PMID 10815801
    5. Coordinately Co-opted Multiple Transposable Elements Constitute an Enhancer for wnt5a Expression in the Mammalian Secondary Palate. Nishihara H, et al. PLoS Genet, 2016 Oct. PMID 27741242, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CHDH variant, rs35518479, was identified as a cis-expression quantitative trait locus (QTL) for CHDH expression in postmortem brains from schizophrenia, allowing genotype-based stratification of schizophrenia patients for betaine efficacy
      Title: Investigation of betaine as a novel psychotherapeutic for schizophrenia.
    2. Data, including data from studies using transgenic/knockout mice, suggest that betaine accumulates during oocyte meiotic maturation; the mechanism appears to be transient activation of Chdh; Chdh is again inactive in the zygote (that is, after fertilization).
      Title: Betaine is accumulated via transient choline dehydrogenase activation during mouse oocyte meiotic maturation.
    3. Loss of CHDH activity resulted in decreased testicular betaine and increased choline and PCho concentrations; impaired fertility was due to diminished sperm motility in the Chdh(-/-) males
      Title: Deletion of murine choline dehydrogenase results in diminished sperm motility.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC30702

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables choline dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables choline dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables choline dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glycine betaine biosynthetic process from choline IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane HDA PubMed 
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    choline dehydrogenase, mitochondrial
    Names
    CDH
    CHD
    NP_001129712.1
    NP_758468.2
    NP_780552.1

    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.

    mRNA and Protein(s)

    1. NM_001136240.1 → NP_001129712.1  choline dehydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_001129712.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK030900, AK052715, AK164042, BY773937
      Consensus CDS
      CCDS26892.1
      UniProtKB/Swiss-Prot
      Q3TPY4, Q8BJ64, Q8CHT7
      Related
      ENSMUSP00000065542.5, ENSMUST00000067620.12
      Conserved Domains (4) summary
      PRK02106
      Location:42 → 588
      PRK02106; choline dehydrogenase; Validated
      pfam00732
      Location:118 → 341
      GMC_oxred_N; GMC oxidoreductase
      pfam05199
      Location:432 → 569
      GMC_oxred_C; GMC oxidoreductase
      pfam13450
      Location:47 → 76
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    2. NM_172264.2 → NP_758468.2  choline dehydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_758468.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK030900, AK052715, AK164042, CT009536
      Consensus CDS
      CCDS26892.1
      UniProtKB/Swiss-Prot
      Q3TPY4, Q8BJ64, Q8CHT7
      Conserved Domains (4) summary
      PRK02106
      Location:42 → 588
      PRK02106; choline dehydrogenase; Validated
      pfam00732
      Location:118 → 341
      GMC_oxred_N; GMC oxidoreductase
      pfam05199
      Location:432 → 569
      GMC_oxred_C; GMC oxidoreductase
      pfam13450
      Location:47 → 76
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    3. NM_175343.5 → NP_780552.1  choline dehydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_780552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK030900, AK052715, AK164042
      Consensus CDS
      CCDS26892.1
      UniProtKB/Swiss-Prot
      Q3TPY4, Q8BJ64, Q8CHT7
      Related
      ENSMUSP00000112916.2, ENSMUST00000118917.2
      Conserved Domains (4) summary
      PRK02106
      Location:42 → 588
      PRK02106; choline dehydrogenase; Validated
      pfam00732
      Location:118 → 341
      GMC_oxred_N; GMC oxidoreductase
      pfam05199
      Location:432 → 569
      GMC_oxred_C; GMC oxidoreductase
      pfam13450
      Location:47 → 76
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      29730957..29762423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_383160.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BJ64.1 GenPept UniProtKB/Swiss-Prot:Q8BJ64

    Gene LinkOut

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

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