ENSMUSG00000025270


Mus musculus

Features
Gene ID: ENSMUSG00000025270
  
Biological name :Alas2
  
Synonyms : 5-aminolevulinate synthase, erythroid-specific, mitochondrial / Alas2 / P08680
  
Possible biological names infered from orthology : 5-aminolevulinate synthase 2 / P22557
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: F3
Gene start: 150547375
Gene end: 150570638
  
Corresponding Affymetrix probe sets: 10602372 (MoGene1.0st)   1451675_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000066040
Ensembl peptide - ENSMUSP00000108335
NCBI entrez gene - 11656     See in Manteia.
MGI - MGI:87990
RefSeq - NM_009653
RefSeq - NM_001102446
RefSeq Peptide - NP_001095916
RefSeq Peptide - NP_033783
swissprot - P08680
swissprot - A2AFM1
swissprot - A2AFM0
Ensembl - ENSMUSG00000025270
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 alas2ENSDARG00000038643Danio rerio
 ALAS2ENSG00000158578Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Alas1 / Q8VC19 / 5-aminolevulinate synthase, nonspecific, mitochondrial / P13196* / 5-aminolevulinate synthase 1*ENSMUSG0000003278662
Gcat / O88986 / 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial / O75600* / glycine C-acetyltransferase*ENSMUSG0000000637824
Gcat / O75600* / glycine C-acetyltransferase*ENSMUSG0000011637822


Protein motifs (from Interpro)
Interpro ID Name
 IPR001917  Aminotransferase, class-II, pyridoxal-phosphate binding site
 IPR004839  Aminotransferase, class I/classII
 IPR010961  Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
 IPR015118  5-aminolevulinate synthase presequence
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia ISS
 biological_processGO:0006778 porphyrin-containing compound metabolic process IEA
 biological_processGO:0006782 protoporphyrinogen IX biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process IEA
 biological_processGO:0006879 cellular iron ion homeostasis IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009058 biosynthetic process IEA
 biological_processGO:0030218 erythrocyte differentiation IMP
 biological_processGO:0033014 tetrapyrrole biosynthetic process IEA
 biological_processGO:0042541 hemoglobin biosynthetic process IMP
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003870 5-aminolevulinate synthase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IEA


Pathways (from Reactome)
Pathway description
Heme biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

 MP:0001770 abnormal iron level "anomalous concentrations of this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

 MP:0003396 abnormal embryonic hematopoiesis "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages occuring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans " [J:94136, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

 MP:0004229 abnormal embryonic erythropoiesis "anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

 MP:0005152 pancytopenia "reduction in the number of erythrocytes, all types of white blood cells, and platelets in the circulating blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:20450]
Show

Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Zeb1Tw/Zeb1+
Genetic Background: involves: C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000025270 Alas2 / P08680 / 5-aminolevulinate synthase, erythroid-specific, mitochondrial / P22557* / 5-aminolevulinate synthase 2*  / complex






 

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