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Dhcr7 7-dehydrocholesterol reductase [ Mus musculus (house mouse) ]

Gene ID: 13360, updated on 8-Feb-2024

Summary

Official Symbol
Dhcr7provided by MGI
Official Full Name
7-dehydrocholesterol reductaseprovided by MGI
Primary source
MGI:MGI:1298378
See related
Ensembl:ENSMUSG00000058454 AllianceGenome:MGI:1298378
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
Summary
Enables 7-dehydrocholesterol reductase activity. Acts upstream of or within several processes, including blood vessel development; lung development; and sterol biosynthetic process. Predicted to be located in endoplasmic reticulum and nuclear outer membrane. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in adrenal gland; genitourinary system; and neural retina. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal adult (RPKM 302.7), liver adult (RPKM 72.3) and 18 other tissues See more
Orthologs
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Genomic context

See Dhcr7 in Genome Data Viewer
Location:
7 88.33 cM; 7 F5
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (143376827..143402147)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (143823167..143848410)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene MAS-related GPR, member E Neighboring gene NAD synthetase 1 Neighboring gene STARR-positive B cell enhancer ABC_E1750 Neighboring gene STARR-positive B cell enhancer ABC_E2257 Neighboring gene STARR-positive B cell enhancer ABC_E3763 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:151023918-151024190 Neighboring gene STARR-seq mESC enhancer starr_20537 Neighboring gene actin, epsilon 1 Neighboring gene microRNA 6404

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 7-dehydrocholesterol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 7-dehydrocholesterol reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 7-dehydrocholesterol reductase activity ISO
Inferred from Sequence Orthology
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brassinosteroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cholesterol biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lung epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cholesterol biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within sterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear outer membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
7-dehydrocholesterol reductase
Names
7-DHC reductase
sterol Delta(7)-reductase
NP_001369427.1
NP_001369428.1
NP_001369429.1
NP_001369430.1
NP_001369432.1
NP_001399246.1
NP_001399247.1
NP_001399248.1
NP_001399249.1
NP_001399250.1
NP_001399251.1
NP_031882.1
XP_006508539.2
XP_030097936.1
XP_036008526.1
XP_036008529.1
XP_036008530.1
XP_036008531.1

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_001382498.2NP_001369427.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  2. NM_001382499.1NP_001369428.1  7-dehydrocholesterol reductase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC133502
    Conserved Domains (1) summary
    cl21511
    Location:73336
    PEMT; Phospholipid methyltransferase
  3. NM_001382500.1NP_001369429.1  7-dehydrocholesterol reductase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC133502
    Conserved Domains (1) summary
    cl21511
    Location:17280
    PEMT; Phospholipid methyltransferase
  4. NM_001382501.2NP_001369430.1  7-dehydrocholesterol reductase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC133502
    Conserved Domains (1) summary
    cl21511
    Location:17373
    PEMT; Phospholipid methyltransferase
  5. NM_001382503.1NP_001369432.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000121782.2, ENSMUST00000141916.8
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  6. NM_001412317.1NP_001399246.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
  7. NM_001412318.1NP_001399247.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
  8. NM_001412319.1NP_001399248.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000117659.2, ENSMUST00000124340.8
  9. NM_001412320.1NP_001399249.1  7-dehydrocholesterol reductase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC133502
  10. NM_001412321.1NP_001399250.1  7-dehydrocholesterol reductase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC133502
  11. NM_001412322.1NP_001399251.1  7-dehydrocholesterol reductase isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
  12. NM_007856.2NP_031882.1  7-dehydrocholesterol reductase isoform 1

    See identical proteins and their annotated locations for NP_031882.1

    Status: VALIDATED

    Source sequence(s)
    AC133502, AF057368
    Consensus CDS
    CCDS22048.1
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000073541.6, ENSMUST00000073878.12
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    143376827..143402147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036152633.1XP_036008526.1  7-dehydrocholesterol reductase isoform X3

    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  2. XM_036152637.1XP_036008530.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17373
    PEMT; Phospholipid methyltransferase
  3. XM_036152638.1XP_036008531.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17373
    PEMT; Phospholipid methyltransferase
  4. XM_006508476.5XP_006508539.2  7-dehydrocholesterol reductase isoform X1

    UniProtKB/TrEMBL
    A0A140LIT2, Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000146947.2, ENSMUST00000207143.2
    Conserved Domains (1) summary
    cl21511
    Location:92474
    PEMT; Phospholipid methyltransferase
  5. XM_030242076.2XP_030097936.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17373
    PEMT; Phospholipid methyltransferase
  6. XM_036152636.1XP_036008529.1  7-dehydrocholesterol reductase isoform X3

    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001382502.1: Suppressed sequence

    Description
    NM_001382502.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.