ENSMUSG00000032018


Mus musculus

Features
Gene ID: ENSMUSG00000032018
  
Biological name :Sc5d
  
Synonyms : O88822 / Sc5d / sterol-C5-desaturase
  
Possible biological names infered from orthology : O75845
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: A5.1
Gene start: 42251595
Gene end: 42264256
  
Corresponding Affymetrix probe sets: 10592585 (MoGene1.0st)   1424709_at (Mouse Genome 430 2.0 Array)   1434520_at (Mouse Genome 430 2.0 Array)   1451457_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000149891
Ensembl peptide - ENSMUSP00000057354
Ensembl peptide - ENSMUSP00000130438
NCBI entrez gene - 235293     See in Manteia.
MGI - MGI:1353611
RefSeq - NM_172769
RefSeq - XM_006510253
RefSeq Peptide - NP_766357
swissprot - A0A1L1SSH0
swissprot - O88822
Ensembl - ENSMUSG00000032018
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sc5dENSDARG00000044642Danio rerio
 SC5DENSGALG00000037065Gallus gallus
 SC5DENSG00000109929Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR006694  Fatty acid hydroxylase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008610 lipid biosynthetic process IEA
 biological_processGO:0016126 sterol biosynthetic process IEA
 biological_processGO:0033490 cholesterol biosynthetic process via lathosterol IBA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0000248 C-5 sterol desaturase activity ISO
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0050046 lathosterol oxidase activity IBA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
Show

Allelic Composition: Sc5db2b3462Clo/Sc5db2b3462Clo
Genetic Background: C57BL/6J-Sc5db2b3462Clo

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

Allelic Composition: Sc5dN224K/Sc5dN224K
Genetic Background: B6.129-Sc5dN224K/Mmnc

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Adam17tm1Imx/Adam17woe
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Sc5db2b3462Clo/Sc5db2b3462Clo
Genetic Background: C57BL/6J-Sc5db2b3462Clo

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0001786 skin edema "accumulation of an excessive amount of fluid in the skin" [J:65039]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adam17tm1Imx/Adam17woe
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Sc5db2b3462Clo/Sc5db2b3462Clo
Genetic Background: C57BL/6J-Sc5db2b3462Clo

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

Allelic Composition: Sc5db2b3462Clo/Sc5db2b3462Clo
Genetic Background: C57BL/6J-Sc5db2b3462Clo

 MP:0002971 abnormal brown fat morphology "defect in the thermogenic form of adipose tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0003051 curly tail "a loop or corkscrew-like curl in the tail" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sc5dN224K/Sc5dN224K
Genetic Background: B6.129-Sc5dN224K/Mmnc

 MP:0003983 decreased cholesterol level "less than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0004201 fetal growth retardation "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0004358 bowed tibia "increased curvature of the medial and larger of the two bones of the lower leg" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0004361 bowed ulna "increased curvature of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0004374 bowed radius "increased curvature of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0004385 interparietal bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0004674 thin ribs "a more slender appearance of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0005059 lysosomal protein accumulation "buildup of protein in the lysosome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0005278 abnormal cholesterol homeostasis "anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0005306 abnormal phalanx morphology "aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0005439 decreased glycogen level "less than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0006279 abnormal limb development "anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0009160 abnormal pancreatic acinar cell zymogen granule "any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0010161 decreased brain cholesterol level "less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0010422 heart right ventricle hypoplasia "underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sc5db2b3462Clo/Sc5db2b3462Clo
Genetic Background: C57BL/6J-Sc5db2b3462Clo

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

Allelic Composition: Sc5dN224K/Sc5dN224K
Genetic Background: B6.129-Sc5dN224K/Mmnc

 MP:0030252 narrow frontonasal prominence "decreased width of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout" [MGI:anna]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

 MP:0030256 abnormal mandibular dental arch morphology "any structural anomaly of the dental arch formed by the teeth of the mandible (lower jaw bone)" [MGI:anna]
Show

Allelic Composition: Portm1Ding/Portm1Ding,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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