ENSMUSG00000030979


Mus musculus

Features
Gene ID: ENSMUSG00000030979
  
Biological name :Uros
  
Synonyms : P51163 / uroporphyrinogen III synthase / Uros
  
Possible biological names infered from orthology : P10746
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: F3
Gene start: 133686243
Gene end: 133710072
  
Corresponding Affymetrix probe sets: 10568638 (MoGene1.0st)   1423482_at (Mouse Genome 430 2.0 Array)   1440535_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000117187
Ensembl peptide - ENSMUSP00000101752
Ensembl peptide - ENSMUSP00000119179
Ensembl peptide - ENSMUSP00000147433
Ensembl peptide - ENSMUSP00000121763
Ensembl peptide - ENSMUSP00000033276
Ensembl peptide - ENSMUSP00000101750
Ensembl peptide - ENSMUSP00000101751
NCBI entrez gene - 22276     See in Manteia.
MGI - MGI:98917
RefSeq - XM_011241731
RefSeq - NM_001302085
RefSeq - NM_001302086
RefSeq - NM_001302087
RefSeq - NM_009479
RefSeq - XM_006507582
RefSeq - XM_011241730
RefSeq Peptide - NP_001289016
RefSeq Peptide - NP_033505
RefSeq Peptide - NP_001289014
RefSeq Peptide - NP_001289015
swissprot - P51163
swissprot - Q3TPL3
swissprot - A0A1B0GR97
swissprot - Q3UG55
swissprot - E9Q9B5
swissprot - E9Q8N3
swissprot - E9PYC9
Ensembl - ENSMUSG00000030979
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 urosENSDARG00000027491Danio rerio
 UROSENSGALG00000013688Gallus gallus
 UROSENSG00000188690Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003754  Tetrapyrrole biosynthesis, uroporphyrinogen III synthase
 IPR036108  Tetrapyrrole biosynthesis, uroporphyrinogen III synthase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IDA
 biological_processGO:0006780 uroporphyrinogen III biosynthetic process IEA
 biological_processGO:0006782 protoporphyrinogen IX biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process IBA
 biological_processGO:0033014 tetrapyrrole biosynthetic process IEA
 biological_processGO:0046677 response to antibiotic IEA
 biological_processGO:0070541 response to platinum ion IEA
 biological_processGO:0071243 cellular response to arsenic-containing substance IEA
 biological_processGO:0071418 cellular response to amine stimulus IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0004852 uroporphyrinogen-III synthase activity IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0048037 cofactor binding IEA


Pathways (from Reactome)
Pathway description
Heme biosynthesis


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

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000321 increased bone marrow cell number "increased number of cells that make up the core cavitites of bones when compared to the norm" [tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001200 thick skin "greater depth of skin " [J:47225]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0001202 skin photosensitivity "abnormally heightened reactivity of the skin to sunlight " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Urostm3Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
Show

Allelic Composition: Urostm3Rjde/Urostm4Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Urostm3Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0001246 mixed cellular infiltration to dermis "gradual accumulation of mixed cell types in the dermis that are not normally found there" [J:65416]
Show

Allelic Composition: Urostm3Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0001585 hemolytic anemia "an anemic condition resulting from an increased rate of erythrocyte destruction" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001874 acanthosis "diffuse hyperplasia of the spinous layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002640 reticulocytosis "an increase in the number of reticulocytes in the blood" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002642 anisocytosis "blood cells of variable size on smear" [J:7209, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002643 poikilocytosis "blood cells of variable shape on smear" [J:7209, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003656 abnormal erythrocyte physiology "functional anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0004147 increased porphyrin level "elevated concentration of porphyrins or protoporphyrins" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Urostm2Rjde/Urostm2Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Urostm1Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Urostm3Rjde/Urostm4Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Urostm3Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005416 abnormal circulating protein level "anomalous blood concentration of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Urostm2Rjde/Urostm2Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005654 porphyria "aquired or inherited group of disorders characterized by excessive production of porphyrins or their precursors; if aquired, it results from inhibition of enzymes in the heme metabolic pathway by drugs, toxins or abnormal metabolites" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008388 hypochromic microcytic anemia "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008476 increased spleen red pulp amount "increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008809 increased spleen iron level "increase in the amount of iron present in the spleen tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0009545 abnormal dermis papillary layer "any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Urostm2Rjde/Urostm3Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SKH1

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
Show

Allelic Composition: Ppp1r1btm2Pggd/Ppp1r1btm2Pggd
Genetic Background: involves: 129 * C57BL/6

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pla2g6tm1Tsu/Pla2g6tm1Tsu
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Urostm2Rjde/Urostm2Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Urostm4Rjde/Urostm4Rjde
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011414 erythruria "passage of red colored urine" [MGI:anna]
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Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0030058 erythrodontia "reddish, brown opalescent discoloration of teeth in normal light" [HP:0030756]
Show

Allelic Composition: Gja5tm1Kwi/Gja5tm1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6

  


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






 

0 s.

 
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