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CHDH choline dehydrogenase [ Homo sapiens (human) ]

Gene ID: 55349, updated on 24-Nov-2020

Summary

Official Symbol
CHDHprovided by HGNC
Official Full Name
choline dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:24288
See related
Ensembl:ENSG00000016391
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
Summary
The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]
Expression
Broad expression in kidney (RPKM 17.5), liver (RPKM 4.8) and 14 other tissues See more
Orthologs

Genomic context

See CHDH in Genome Data Viewer
Location:
3p21.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (53812335..53846464, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53850324..53880420, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2578 Neighboring gene ribosomal protein S25 pseudogene 4 Neighboring gene calcium voltage-gated channel subunit alpha1 D Neighboring gene interleukin 17 receptor B Neighboring gene actin related protein 8 Neighboring gene selenoprotein K

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
choline dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
choline dehydrogenase activity TAS
Traceable Author Statement
more info
 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
choline catabolic process TAS
Traceable Author Statement
more info
 
glycine betaine biosynthetic process from choline IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
choline dehydrogenase, mitochondrial
Names
CDH
CHD
NP_060867.2
XP_006713313.1
XP_006713314.1
XP_006713315.1
XP_011532240.1
XP_011532241.1
XP_016862286.1
XP_016862287.1
XP_016862288.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_028042.1 RefSeqGene

    Range
    5001..35097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018397.5NP_060867.2  choline dehydrogenase, mitochondrial

    See identical proteins and their annotated locations for NP_060867.2

    Status: REVIEWED

    Source sequence(s)
    AC012467, AJ272267, BC034502, BE856786, CN285856
    Consensus CDS
    CCDS2873.1
    UniProtKB/Swiss-Prot
    Q8NE62
    Related
    ENSP00000319851.5, ENST00000315251.11
    Conserved Domains (3) summary
    PRK02106
    Location:40594
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:430567
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116339
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    53812335..53846464 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006799.2XP_016862288.1  choline dehydrogenase, mitochondrial isoform X4

  2. XM_006713252.4XP_006713315.1  choline dehydrogenase, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl21454
    Location:116340
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  3. XM_006713250.4XP_006713313.1  choline dehydrogenase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006713313.1

    Conserved Domains (3) summary
    PRK02106
    Location:40595
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:431568
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116340
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  4. XM_006713251.4XP_006713314.1  choline dehydrogenase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006713314.1

    Conserved Domains (3) summary
    PRK02106
    Location:40595
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:431568
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116340
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  5. XM_011533939.3XP_011532241.1  choline dehydrogenase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011532241.1

    Conserved Domains (3) summary
    PRK02106
    Location:40595
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:431568
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116340
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  6. XM_017006797.2XP_016862286.1  choline dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q8NE62
    Conserved Domains (3) summary
    PRK02106
    Location:40594
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:430567
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116339
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  7. XM_011533938.3XP_011532240.1  choline dehydrogenase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011532240.1

    Conserved Domains (3) summary
    PRK02106
    Location:40595
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:431568
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116340
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  8. XM_017006798.2XP_016862287.1  choline dehydrogenase, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q8NE62
    Conserved Domains (3) summary
    PRK02106
    Location:40594
    PRK02106; choline dehydrogenase; Validated
    pfam05199
    Location:430567
    GMC_oxred_C; GMC oxidoreductase
    cl21454
    Location:116339
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. XR_002959545.1 RNA Sequence

  2. XR_001740199.2 RNA Sequence

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