Chdh choline dehydrogenase [Mus musculus (house mouse)] - Gene

Summary

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

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_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (2) 1 citation

General gene information

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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 more info	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 more info	PubMed

General protein information

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Preferred Names: choline dehydrogenase, mitochondrial

Names: CDH; CHD

NP_001129712.1

EC 1.1.99.1

NP_758468.2

EC 1.1.99.1

NP_780552.1

EC 1.1.99.1

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)

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
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
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