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Chdh choline dehydrogenase [ Mus musculus (house mouse) ]

Gene ID: 218865, updated on 21-Apr-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, Apr 2022]
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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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
  • 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 (25) 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 ISO
Inferred from Sequence Orthology
more info
  
enables flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on CH-OH group of donors 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 membrane IEA
Inferred from Electronic Annotation
more info
  
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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