ENSMUSG00000046318


Mus musculus

Features
Gene ID: ENSMUSG00000046318
  
Biological name :Ccbe1
  
Synonyms : Ccbe1 / Collagen and calcium-binding EGF domain-containing protein 1 / Q3MI99
  
Possible biological names infered from orthology : collagen and calcium binding EGF domains 1 / Q6UXH8
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: E1
Gene start: 66045302
Gene end: 66302739
  
Corresponding Affymetrix probe sets: 10459496 (MoGene1.0st)   1437385_at (Mouse Genome 430 2.0 Array)   1439327_at (Mouse Genome 430 2.0 Array)   1445127_at (Mouse Genome 430 2.0 Array)   1453918_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000052011
Ensembl peptide - ENSMUSP00000117636
NCBI entrez gene - 320924     See in Manteia.
MGI - MGI:2445053
RefSeq - XM_006526021
RefSeq - NM_178793
RefSeq Peptide - NP_848908
swissprot - Q3MI99
Ensembl - ENSMUSG00000046318
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ccbe1ENSDARG00000086158Danio rerio
 ENSGALG00000027785Gallus gallus
 ENSGALG00000033525Gallus gallus
 CCBE1ENSG00000183287Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR008160  Collagen triple helix repeat
 IPR013032  EGF-like, conserved site
 IPR018097  EGF-like calcium-binding, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001945 lymph vessel development IMP
 biological_processGO:0001946 lymphangiogenesis ISS
 biological_processGO:0002040 sprouting angiogenesis ISS
 biological_processGO:0003016 respiratory system process IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007585 respiratory gaseous exchange IMP
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production ISO
 biological_processGO:0010595 positive regulation of endothelial cell migration IMP
 biological_processGO:0010954 positive regulation of protein processing ISO
 biological_processGO:0030324 lung development IMP
 biological_processGO:0045766 positive regulation of angiogenesis IDA
 biological_processGO:0048845 venous blood vessel morphogenesis ISS
 biological_processGO:1900748 positive regulation of vascular endothelial growth factor signaling pathway ISO
 biological_processGO:1901492 positive regulation of lymphangiogenesis IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space ISO
 molecular_functionGO:0002020 protease binding ISO
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005518 collagen binding ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * 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: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Kif5atm1.1Noh/Kif5atm1.1Noh
Genetic Background: B6.129S6-Kif5atm1.1Noh

 MP:0000601 small liver "reduced size of the liver" [J:23170]
Show

Allelic Composition: Kif5atm1.1Noh/Kif5atm1.1Noh
Genetic Background: B6.129S6-Kif5atm1.1Noh

 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]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Kcnj11tm1Sse/Kcnj11tm1Sse,Tg(Ins1-Kcnj11*)#Nich/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kif5atm1.1Noh/Kif5atm1.1Noh
Genetic Background: B6.129S6-Kif5atm1.1Noh

 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: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0002451 abnormal macrophage physiology "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0003884 decreased macrophage count "fewer than the normal numbers of macrophages" [acv:Alicia Valenzuela, Genetic Resources Curator]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0008778 lymphangiogenesis "any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels" [MESH:G07.574.500.325.377.500]
Show

Allelic Composition: Kcnj11tm1Sse/Kcnj11tm1Sse,Tg(Ins1-Kcnj11*)#Nich/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0009395 persistence of primitive erythrocytes "presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0010194 absent lymphatic vessels "absence of the network of vessels which carries lymph around the body" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Kcnj11tm1Sse/Kcnj11tm1Sse,Tg(Ins1-Kcnj11*)#Nich/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 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: Kcnj11tm1Sse/Kcnj11tm1Sse,Tg(Ins1-Kcnj11*)#Nich/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0011243 decreased fetal derived definitive erythrocyte cell number "reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins" [CL:0002357, PMID:18282515]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

  


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






 

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