ENSMUSG00000033918


Mus musculus

Features
Gene ID: ENSMUSG00000033918
  
Biological name :Parl
  
Synonyms : Parl / Presenilins-associated rhomboid-like protein, mitochondrial P-beta / Q5XJY4
  
Possible biological names infered from orthology : AC131160.1 / presenilin associated rhomboid like / Q9H300
  
Species: Mus musculus
  
Chr. number: 16
Strand: -1
Band: A3
Gene start: 20279820
Gene end: 20302387
  
Corresponding Affymetrix probe sets: 10438460 (MoGene1.0st)   10468990 (MoGene1.0st)   1433478_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000045361
Ensembl peptide - ENSMUSP00000119470
Ensembl peptide - ENSMUSP00000119060
NCBI entrez gene - 381038     See in Manteia.
MGI - MGI:1277152
RefSeq - NM_001005767
RefSeq Peptide - NP_001005767
swissprot - D6RJ50
swissprot - D6RCZ6
swissprot - Q5XJY4
Ensembl - ENSMUSG00000033918
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 LO018197.1ENSDARG00000020891Danio rerio
 parlaENSDARG00000039310Danio rerio
 ENSGALG00000002315Gallus gallus
 AC131160.1ENSG00000283765Homo sapiens
 PARLENSG00000175193Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR022764  Peptidase S54, rhomboid domain
 IPR035952  Rhomboid-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IMP
 biological_processGO:0010821 regulation of mitochondrion organization ISO
 biological_processGO:0030162 regulation of proteolysis ISO
 biological_processGO:0090201 negative regulation of release of cytochrome c from mitochondria IMP
 biological_processGO:1903146 regulation of autophagy of mitochondrion IMP
 biological_processGO:1903214 regulation of protein targeting to mitochondrion ISO
 biological_processGO:2000377 regulation of reactive oxygen species metabolic process ISO
 biological_processGO:2001243 negative regulation of intrinsic apoptotic signaling pathway IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004175 endopeptidase activity IMP
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Processing of SMDT1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0001145 abnormal male reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that produces spermatozoa" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0002286 cryptorchism "failure of one or both of the testes to descend into the scrotum around the time of birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0003643 spleen atrophy "wasting of the spleen resulting in reduced size" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0003644 thymus atrophy "wasting of the thymus resulting in reduced size " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004014 abnormal uterine environment "anomaly or inability of the uterus to support embryonic development" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004930 small epididymis "decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004939 abnormal B cell morphology "any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens" [CL:0000236, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0005016 decreased lymphocyte number "fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0005017 decreased B cell number "fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0005092 decreased double-positive T cell count "less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0006036 abnormal mitochondrial physiology 
Show

Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0006413 increased T cell apoptosis "increase in the number of T cells undergoing programmed cell death" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdh1tm1Jjon/Cdh1+,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026775 O88967 / Yme1l1 / YME1-like 1 (S. cerevisiae) / Q96TA2* / YME1 like 1 ATPase*  / complex
 ENSMUSG00000028455 Q99JB2 / Stoml2 / Stomatin-like protein 2, mitochondrial / Q9UJZ1* / stomatin like 2*  / complex






 

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