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Sc5d
Gene Detail
 Symbol
Name
ID
Sc5d
sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) homolog (S. cerevisae)
MGI:1353611
Synonyms A830073K23Rik
Feature Type protein coding gene
Genetic Map
Chromosome 9
23.57 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr9:42254177-42264300 bp, - strand
From NCBI annotation of GRCm38

  10124 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5044  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Sc5d

Human
homologs
Human Homolog SC5D, sterol-C5-desaturase
NCBI Gene ID 6309
neXtProt AC  NX_O75845
Human Synonyms  ERG3, S5DES, SC5DL
Human Chr (Location)  11q23.3; chr11:121292679-121313410 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SC5D
Alleles
and
phenotypes
All alleles(4) : Targeted(3) Spontaneous(1)
 
Homozygous null mice died perinatally with increased lathosterol and decreased cholesterol levels. Additionaly, mutant mice presented with bone malformations of the limbs and skull.
 
Human Diseases Modeled Using Mouse Sc5d (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process cholesterol biosynthetic process via lathosterol, fatty acid biosynthetic process, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function C-5 sterol desaturase activity, iron ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (96)    Tissues (12)    Images (25)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 96
cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(8)
Other database
links
Ensembl Gene ModelENSMUSG00000032018 (Evidence)
Entrez Gene235293 (Evidence)
DFCITC1575204, TC1595175, TC1664619, TC1693543, TC1744667
DoTSDT.101382488, DT.534512, DT.97349569
NIA Mouse Gene IndexU030750
EC1.14.21.6
Consensus CDS ProjectCCDS23086.1
International Mouse Knockout Project StatusSc5d
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 235293 NCBI Gene Model | MGI Sequence Detail 10124 C57BL/6J ±  kb
transcript NM_172769 RefSeq | MGI Sequence Detail 2249 C57BL/6 
polypeptide O88822 UniProt | EBI | MGI Sequence Detail 299 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(162 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006694 Fatty acid hydroxylase
Protein Ontology PR:000014480 lathosterol oxidase
Graphical View of Protein Domain Structure
References (Earliest) J:60316 Nishi S, et al., cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. Biochim Biophys Acta. 2000 Jan 31;1490(1-2):106-8
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(36)
Other
accession IDs
MGI:2441835

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory