ENSMUSG00000020282


Mus musculus

Features
Gene ID: ENSMUSG00000020282
  
Biological name :Rhbdf1
  
Synonyms : Q6PIX5 / Rhbdf1 / rhomboid 5 homolog 1
  
Possible biological names infered from orthology : Q96CC6
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: A4
Gene start: 32209585
Gene end: 32222300
  
Corresponding Affymetrix probe sets: 10384985 (MoGene1.0st)   1424138_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118985
Ensembl peptide - ENSMUSP00000118769
Ensembl peptide - ENSMUSP00000120543
Ensembl peptide - ENSMUSP00000122533
Ensembl peptide - ENSMUSP00000020524
Ensembl peptide - ENSMUSP00000117471
NCBI entrez gene - 13650     See in Manteia.
MGI - MGI:104328
RefSeq - XM_011243658
RefSeq - XM_006514494
RefSeq - XM_006514495
RefSeq - XM_006514496
RefSeq - XM_006514499
RefSeq - XM_006514501
RefSeq - XM_006514503
RefSeq - XM_011243657
RefSeq - NM_001291818
RefSeq - NM_010117
RefSeq Peptide - NP_001278747
RefSeq Peptide - NP_034247
swissprot - A2AVE5
swissprot - A7M7T5
swissprot - A2AVE4
swissprot - Q6PIX5
swissprot - F2Z3W3
Ensembl - ENSMUSG00000020282
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q6GMF8ENSDARG00000036541Danio rerio
 rhbdf1bENSDARG00000017367Danio rerio
 RHBDF1ENSGALG00000007434Gallus gallus
 Q96CC6ENSG00000007384Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80WQ6 / Rhbdf2 / Inactive rhomboid protein 2 / Q6PJF5* / rhomboid 5 homolog 2*ENSMUSG0000002080657


Protein motifs (from Interpro)
Interpro ID Name
 IPR002610  Peptidase S54, rhomboid
 IPR022241  Rhomboid serine protease
 IPR022764  Peptidase S54, rhomboid domain
 IPR035952  Rhomboid-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0042058 regulation of epidermal growth factor receptor signaling pathway IEA
 biological_processGO:0050708 regulation of protein secretion IEA
 biological_processGO:0050709 negative regulation of protein secretion IEA
 biological_processGO:0061136 regulation of proteasomal protein catabolic process IEA
 cellular_componentGO:0000139 Golgi membrane ISO
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IBA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0000333 decreased bone marrow cell number "decreased number of cells that make up the core cavities of bones when compared to the norm" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0000692 small spleen "decreased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
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Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
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Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: B6.129S-Rhbdf1tm1.1Mfm

 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: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0001783 decreased white fat amount "reduced quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0001916 intracerebral hemorrhage "bleeding within the cerebrum" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * 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: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0002591 decreased mean corpuscular volume "less 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]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Rhbdf1/Hbatm2Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rhbdf1/Hbatm2.1Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * 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: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0002641 anisopoikilocytosis "presence in blood of RBCs of abnormal shapes and sizes" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf1/Hbatm1(RHBDF1/HBA)Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Rhbdf1/Hbatm2Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002813 microcytosis "the presence of unusually small erythrocytes in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf1/Hbatm2Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Rhbdf1/Hbatm2Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rhbdf1/Hbatm2.1Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003408 increased width of hypertrophic chondrocyte zone "increased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

Allelic Composition: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Rhbdf1/Hbatm2Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rhbdf1/Hbatm2.1Ajhs/Rhbdf1+
Genetic Background: involves: 129P2/OlaHsd * 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: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0009145 abnormal pancreatic acinus morphology "any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0009154 pancreatic acinar hypoplasia "underdevelopment or reduced size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to a decreased cell number" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0009162 absent pancreatic acinar cell zymogen granule "absence of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0009264 failure of eyelid fusion "the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010591 enlarged aortic valve "an increase in the total area occupied by the aortic valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010593 thick aortic valve cusps "an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010600 enlarged pulmonary valve "an increase in the total area occupied by the pulmonary valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010605 thick pulmonary valve cusps "an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010626 thick tricuspid valve cusps 
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Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010627 enlarged tricuspid valve "an increase in the total area occupied by the tricuspid valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rhbdf2tm1Mak/Rhbdf2tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: B6.129S-Rhbdf1tm1.1Mfm

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 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]
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Allelic Composition: Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs/Rhbdf1/Hbatm1.1(RHBDF1/HBA)Ajhs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm,Rhbdf2tm1.1Mfm/Rhbdf2tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm,Rhbdf2tm1.1Mfm/Rhbdf2tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0011945 increased eating frequency "increase in the number of discrete instances of initiation of eating over time, regardless of amount eaten" [MGI:csmith]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0020409 abnormal cardiac thrombosis "any anomaly in the formation or presence of thrombi in the heart" [PMID:15870284]
Show

Allelic Composition: Rhbdf1tm1.1Mfm/Rhbdf1tm1.1Mfm
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6J

  


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






 

0 s.

 
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