About   Help   FAQ
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 Ensembl 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: SC5D
Gene Tree: Sc5d

Human
homologs
SC5D, sterol-C5-desaturase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6309
neXtProt AC: NX_O75845

Human Synonyms: ERG3, S5DES, SC5DL

Human Chr (Location): 11q23.3; chr11:121292679-121313410 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SC5D

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Sc5d (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Sc5d interacts with 173 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (96)    Tissues (12)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN sc5d    NEW 
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(8)
Other database
links
Ensembl Gene Model ENSMUSG00000032018 (Evidence)
Entrez Gene 235293 (Evidence)
DFCI TC1664619, TC1595175, TC1575204, TC1693543, TC1744667
DoTS DT.97349569, DT.534512, DT.101382488
NIA Mouse Gene Index U030750
EC 1.14.21.6
Consensus CDS Project CCDS23086.1
International Mouse Phenotyping Consortium Status Sc5d
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032018 Ensembl Gene Model | MGI Sequence Detail 10124 C57BL/6J ±  kb
transcript ENSMUST00000052725 Ensembl | MGI Sequence Detail 2249 Not Applicable 
polypeptide ENSMUSP00000057354 Ensembl | MGI Sequence Detail 299 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(6) 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
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:216177 Labialle S, et al., The miR-379/miR-410 cluster at the imprinted Dlk1-Dio3 domain controls neonatal metabolic adaptation. EMBO J. 2014 Oct 1;33(19):2216-30
All references(36)
Disease annotation references (1)
Other
accession IDs
MGI:2441835

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory