ENSMUSG00000045672


Mus musculus

Features
Gene ID: ENSMUSG00000045672
  
Biological name :Col27a1
  
Synonyms : Col27a1 / Collagen alpha-1(XXVII) chain / Q5QNQ9
  
Possible biological names infered from orthology : collagen type XXVII alpha 1 chain / Q8IZC6
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: B3
Gene start: 63214004
Gene end: 63334991
  
Corresponding Affymetrix probe sets: 10505374 (MoGene1.0st)   1429549_at (Mouse Genome 430 2.0 Array)   1453191_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000043816
Ensembl peptide - ENSMUSP00000139173
Ensembl peptide - ENSMUSP00000139182
NCBI entrez gene - 373864     See in Manteia.
MGI - MGI:2672118
RefSeq - XM_017320286
RefSeq - NM_025685
RefSeq - XM_017320282
RefSeq - XM_017320283
RefSeq - XM_017320284
RefSeq - XM_017320285
RefSeq - XM_006538035
RefSeq - XM_011250057
RefSeq Peptide - NP_079961
swissprot - Q5QNQ9
swissprot - V9GXJ0
swissprot - V9GXJ7
Ensembl - ENSMUSG00000045672
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col27a1bENSDARG00000099930Danio rerio
 Q8IZC6ENSG00000196739Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q30D77 / Col24a1 / Collagen alpha-1(XXIV) chain / Q17RW2* / collagen type XXIV alpha 1 chain*ENSMUSG0000002819742
Col5a1 / O88207 / Collagen alpha-1(V) chain / P20908* / collagen type V alpha 1 chain*ENSMUSG0000002683734
Q61245 / Col11a1 / Collagen alpha-1(XI) chain / P12107* / collagen type XI alpha 1 chain*ENSMUSG0000002796633
Q64739 / Col11a2 / Collagen alpha-2(XI) chain / P13942* / collagen type XI alpha 2 chain*ENSMUSG0000002433032
Col5a3 / collagen, type V, alpha 3 / P25940* / collagen type V alpha 3 chain*ENSMUSG0000000409832
Col5a2 / Q3U962 / Collagen alpha-2(V) chain / P05997* / collagen type V alpha 2 chain*ENSMUSG0000002604230
Col1a1 / P11087 / Collagen alpha-1(I) chain / P02452* / collagen type I alpha 1 chain*ENSMUSG0000000150630
Col2a1 / P28481 / Collagen alpha-1(II) chain Collagen alpha-1(II) chain Chondrocalcin / P02458* / collagen type II alpha 1 chain*ENSMUSG0000002248330
Col3a1 / P08121 / Collagen alpha-1(III) chain / P02461* / collagen type III alpha 1 chain*ENSMUSG0000002604329
Col1a2 / Q01149 / Collagen alpha-2(I) chain / P08123* / collagen type I alpha 2 chain*ENSMUSG0000002966128


Protein motifs (from Interpro)
Interpro ID Name
 IPR000885  Fibrillar collagen, C-terminal
 IPR001791  Laminin G domain
 IPR008160  Collagen triple helix repeat
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR016133  Insect cysteine-rich antifreeze protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003431 growth plate cartilage chondrocyte development IMP
 biological_processGO:0030198 extracellular matrix organization IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005583 fibrillar collagen trimer IDA
 molecular_functionGO:0005201 extracellular matrix structural constituent IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
MET activates PTK2 signaling
Collagen chain trimerization


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: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0000166 abnormal chondrocyte morphology "anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0000440 domed skull 
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0002657 chondrodystrophy "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004321 short sternum "reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004509 abnormal pelvic girdle bone morphology "any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0004678 split xiphoid process "the appearance of an abnormal division of the posterior tip of the sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0006395 abnormal epiphyseal plate morphology "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0009780 abnormal chondrocyte physiology "any functional anomaly of nondividing cartilage cells" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010082 sternebra fusion "appearance of one or more sternebrae as a single structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010099 abnormal thoracic cage shape "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col27a1tm1.1Rpbh/Col27a1tm1.1Rpbh,Tg(Col2a1-cre)1Asz/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0010146 umbilical hernia "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", PMID:20333300]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010902 abnormal pulmonary alveolar sac morphology "any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030273 mandibular retrognathia "abnormal posterior-shifted positioning of the lower jaw (mandible) relative to the facial skeleton and soft tissues" [MGI:anna]
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Allelic Composition: Col27a1tm1.2Rpbh/Col27a1tm1.2Rpbh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


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






 

0 s.

 
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