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; chr11:121163388-121184119 (+)  GRCh37.p10
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: (15 annotations)

Process	cholesterol biosynthetic process via lathosterol, fatty acid biosynthetic process, ...
Component	endoplasmic reticulum, integral to 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 Type	Results
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 Model	ENSMUSG00000032018 (Evidence)
Entrez Gene	235293 (Evidence)
DFCI	TC1575204, TC1595175, TC1664619, TC1693543, TC1744667
DoTS	DT.101382488, DT.534512, DT.97349569
NIA Mouse Gene Index	U030750
EC	1.14.21.6
Consensus CDS Project	CCDS23086.1
International Mouse Knockout Project Status	Sc5d

Sequences

Length	Strain/Species
genomic	235293	NCBI Gene Model | MGI Sequence Detail	10124	C57BL/6J
transcript	NM_172769	RefSeq | MGI Sequence Detail	2249	C57BL/6
polypeptide	O88822	UniProt | EBI | MGI Sequence Detail	299	Not Applicable

All sequences(35) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(94 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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