ENSMUSG00000032126


Mus musculus

Features
Gene ID: ENSMUSG00000032126
  
Biological name :Hmbs
  
Synonyms : Hmbs / P22907 / Porphobilinogen deaminase
  
Possible biological names infered from orthology : hydroxymethylbilane synthase / P08397
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: A5.2
Gene start: 44336339
Gene end: 44344228
  
Corresponding Affymetrix probe sets: 10350335 (MoGene1.0st)   10592816 (MoGene1.0st)   1426475_at (Mouse Genome 430 2.0 Array)   1436930_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000095166
Ensembl peptide - ENSMUSP00000150673
Ensembl peptide - ENSMUSP00000150138
Ensembl peptide - ENSMUSP00000149522
Ensembl peptide - ENSMUSP00000076575
NCBI entrez gene - 15288     See in Manteia.
MGI - MGI:96112
RefSeq - NM_013551
RefSeq - NM_001110251
RefSeq Peptide - NP_001103721
RefSeq Peptide - NP_038579
swissprot - Q3UPG1
swissprot - A0A1L1ST19
swissprot - A0A1L1SRM0
swissprot - P22907
swissprot - A0A1L1SU93
Ensembl - ENSMUSG00000032126
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmbsaENSDARG00000008840Danio rerio
 hmbsbENSDARG00000055991Danio rerio
 HMBSENSGALG00000042939Gallus gallus
 HMBSENSG00000256269Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000860  Porphobilinogen deaminase
 IPR022417  Porphobilinogen deaminase, N-terminal
 IPR022418  Porphobilinogen deaminase, C-terminal
 IPR022419  Porphobilinogen deaminase, dipyrromethane cofactor binding site
 IPR036803  Porphobilinogen deaminase, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IEA
 biological_processGO:0006782 protoporphyrinogen IX biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process IBA
 biological_processGO:0018160 peptidyl-pyrromethane cofactor linkage IEA
 biological_processGO:0033014 tetrapyrrole biosynthetic process IEA
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0004418 hydroxymethylbilane synthase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Heme biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tnfrsf13btm1Rjb/Tnfrsf13btm1Rjb
Genetic Background: involves: 129X1/SvJ

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 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: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0009415 skeletal muscle degeneration "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Tnfrsf13btm1Rjb/Tnfrsf13btm1Rjb
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

 MP:0011414 erythruria "passage of red colored urine" [MGI:anna]
Show

Allelic Composition: Hmbstm3Uam/Hmbstm3Uam
Genetic Background: C57BL/6-Hmbstm3Uam

  


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






 

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