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

Gene ID: 13360, updated on 13-Aug-2022

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; 7 F5
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (143376825..143402147)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (143823167..143848410)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (151009072..151034315)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene MAS-related GPR, member E Neighboring gene NAD synthetase 1 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

Homology

Gene Ontology Provided by MGI

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
PubMed 
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
involved_in sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
is_active_in integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle 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_001369431.1
NP_001369432.1
NP_031882.1
XP_006508539.2
XP_006508541.1
XP_011240281.1
XP_030097935.1
XP_030097936.1
XP_036008526.1
XP_036008527.1
XP_036008528.1
XP_036008529.1
XP_036008530.1
XP_036008531.1
XP_036008532.1

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

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    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_001382501.1NP_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_001382502.1NP_001369431.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  6. NM_001382503.1NP_001369432.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    Related
    ENSMUSP00000121782.2, ENSMUST00000141916.8
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  7. 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
    Related
    ENSMUSP00000073541.6, ENSMUST00000073878.12
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    143376825..143402147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036152635.1XP_036008528.1  7-dehydrocholesterol reductase isoform X3

    UniProtKB/Swiss-Prot
    O88455
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  2. XM_036152634.1XP_036008527.1  7-dehydrocholesterol reductase isoform X3

    UniProtKB/Swiss-Prot
    O88455
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  3. XM_011241979.3XP_011240281.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17373
    PEMT; Phospholipid methyltransferase
  4. XM_036152633.1XP_036008526.1  7-dehydrocholesterol reductase isoform X3

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

    Conserved Domains (1) summary
    cl21511
    Location:17373
    PEMT; Phospholipid methyltransferase
  6. XM_030242075.2XP_030097935.1  7-dehydrocholesterol reductase isoform X2

    Conserved Domains (1) summary
    cl21511
    Location:138520
    PEMT; Phospholipid methyltransferase
  7. XM_006508478.1XP_006508541.1  7-dehydrocholesterol reductase isoform X3

    See identical proteins and their annotated locations for XP_006508541.1

    UniProtKB/Swiss-Prot
    O88455
    Related
    ENSMUSP00000117659.2, ENSMUST00000124340.8
    Conserved Domains (1) summary
    cl21511
    Location:89471
    PEMT; Phospholipid methyltransferase
  8. XM_036152639.1XP_036008532.1  7-dehydrocholesterol reductase isoform X4

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

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

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

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

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