ENSMUSG00000034450


Mus musculus

Features
Gene ID: ENSMUSG00000034450
  
Biological name :Gulo
  
Synonyms : Gulo / gulonolactone (L-) oxidase / P58710
  
Possible biological names infered from orthology :
  
Species: Mus musculus
  
Chr. number: 14
Strand: -1
Band: D1
Gene start: 65986786
Gene end: 66009207
  
Corresponding Affymetrix probe sets: 10420899 (MoGene1.0st)   1451297_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000060912
NCBI entrez gene - 268756     See in Manteia.
MGI - MGI:1353434
RefSeq - NM_178747
RefSeq - XM_006519066
RefSeq Peptide - NP_848862
swissprot - P58710
Ensembl - ENSMUSG00000034450
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000016570Gallus gallus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006093  Oxygen oxidoreductase covalent FAD-binding site
 IPR006094  FAD linked oxidase, N-terminal
 IPR007173  D-arabinono-1,4-lactone oxidase
 IPR010031  L-gulonolactone/D-arabinono-1,4-lactone oxidase
 IPR016166  FAD-binding, type 2
 IPR016167  FAD-binding, type 2, subdomain 1
 IPR016170  Cytokinin dehydrogenase, C-terminal domain superfamily
 IPR030654  Sugar 1,4-lactone oxidase
 IPR036318  FAD-binding, type 2-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0019853 L-ascorbic acid biosynthetic process IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003885 D-arabinono-1,4-lactone oxidase activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016614 oxidoreductase activity, acting on CH-OH group of donors IEA
 molecular_functionGO:0016899 oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor IEA
 molecular_functionGO:0050105 L-gulonolactone oxidase activity IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000061 fragile skeleton "easily damaged or broken bones" [J:14208]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gulosfx-2J/Gulosfx-2J
Genetic Background: RB156Bnr/Ei Dsprul Gulosfx-2J/GrsrJ

 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0000135 reduced cortical bone thickness "thinner than normal superficial layer of compact bone " [J:61509]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gulosfx-2J/Gulosfx-2J
Genetic Background: RB156Bnr/Ei Dsprul Gulosfx-2J/GrsrJ

 MP:0000141 abnormal vertebral body morphology "malformed main portion of the vertebra anterior to the vertebral canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000167 reduced chondrocyte numbers "fewer than normal numbers of nondividing cartilage cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61509]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0000195 hypocalcemia "subnormal concentrations of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000198 hypophosphatemia "abnormally low concentrations of phosphates in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0000465 gastrointestinal hemorrhage "bleeding in the stomach and/or the intestines" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0000692 small spleen "decreased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Myo15sh2-3J/Myo15sh2-3J
Genetic Background: C57BL/6J-Myo15sh2-3J/J

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: C57BL/6

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gulosfx-2J/Gulosfx-2J
Genetic Background: RB156Bnr/Ei Dsprul Gulosfx-2J/GrsrJ

 MP:0002936 joint swelling "enlargement of the joints, usually due to an accumulation of fluid" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: C57BL/6

 MP:0002966 decreased circulating alkaline phosphatase level "reduced activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003055 abnormal epiphyseal plate morphology "malformed or absent cartilagenous center of ossification on the long bones permitting growth of the bone in both directions during development" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003070 increased vascular permeability "greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0003116 rickets "overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gulosfx-2J/Gulosfx-2J
Genetic Background: RB156Bnr/Ei Dsprul Gulosfx-2J/GrsrJ

 MP:0004701 decreased circulating insulin-like growth factor I level "reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood 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]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0005238 increased brain size "larger than the normal physical proportions of the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57958]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0008396 abnormal osteoclast differentiation "atypical production of or inability to produce bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six5tm1Rdd/Six5+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009862 abnormal aorta elastic tissue morphology "any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0009864 abnormal aorta endothelium morphology "any strucutral anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0009865 abnormal aorta smooth muscle morphology "any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

 MP:0011229 abnormal vitamin C level "any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species" [GO:0019852]
Show

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Gulotm1Mae/Gulotm1Mae
Genetic Background: involves: C57BL/6

  


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






 

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