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Sc5d Gene Detail
Summary
  • Symbol
    Sc5d
  • Name
    sterol-C5-desaturase
  • Synonyms
    A830073K23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353611
    NCBI Gene: 235293
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr9:42162891-42175552 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 23.57 cM, cytoband B
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    196 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353611
 protein coding gene Chr9:42162888-42175607 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034676
 protein coding gene Chr9:40593838-40605413 (-)
A/J MGP_AJ_G0034656
 protein coding gene Chr9:39516015-39526124 (-)
AKR/J MGP_AKRJ_G0034582
 protein coding gene Chr9:40281973-40293996 (-)
BALB/cJ MGP_BALBcJ_G0034647
 protein coding gene Chr9:39244099-39254283 (-)
C3H/HeJ MGP_C3HHeJ_G0034358
 protein coding gene Chr9:40780971-40791158 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035170
 protein coding gene Chr9:41859280-41869403 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032083
 protein coding gene Chr9:39120676-39130798 (-)
CAST/EiJ MGP_CASTEiJ_G0033681
 protein coding gene Chr9:40577897-40588113 (-)
CBA/J MGP_CBAJ_G0034331
 protein coding gene Chr9:43337645-43352778 (-)
DBA/2J MGP_DBA2J_G0034490
 protein coding gene Chr9:39435992-39446680 (-)
FVB/NJ MGP_FVBNJ_G0034430
 protein coding gene Chr9:38664227-38674940 (-)
LP/J MGP_LPJ_G0034571
 protein coding gene Chr9:40869808-40880383 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034474
 protein coding gene Chr9:45317024-45327239 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035189
 protein coding gene Chr9:40192861-40203052 (-)
PWK/PhJ MGP_PWKPhJ_G0033386
 protein coding gene Chr9:39262161-39272737 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033222
 protein coding gene Chr9:40457453-40467662 (-)
WSB/EiJ MGP_WSBEiJ_G0033794
 protein coding gene Chr9:40228200-40238446 (-)



Homology
more
  • Human Ortholog
    SC5D, sterol-C5-desaturase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SC5D, sterol-C5-desaturase
  • Synonyms
    ERG3, S5DES, SC5DL
  • Links
    NCBI Gene ID: 6309
    neXtProt AC: NX_O75845
    UniProt: O75845

  • Chr Location
    11q23.3-q24.1; chr11:121292681-121313410 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 3 alleles in 3 genetic backgrounds
    8 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice died perinatally with increased lathosterol and decreased cholesterol levels. Additionaly, mutant mice presented with bone malformations of the limbs and skull.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    15
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    804
  • Tissues
    13
  • cDNA Data
    10
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032018 Ensembl Gene Model | MGI Sequence Detail 12662 C57BL/6J ±  kb
    transcript ENSMUST00000052725 Ensembl | MGI Sequence Detail 4787 Not Applicable  
    polypeptide ENSMUSP00000057354 Ensembl | MGI Sequence Detail 299 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 11
      Primer pair 1
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2441835
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 5
      Gene Ontology 8
      Phenotypes 12
    • 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:316178 Gamart J, et al., SMAD4 target genes are part of a transcriptional network that integrates the response to BMP and SHH signaling during early limb bud patterning. Development. 2021 Dec 1;148(23):dev200182
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory