ENSMUSG00000026147


Mus musculus

Features
Gene ID: ENSMUSG00000026147
  
Biological name :Col9a1
  
Synonyms : Col9a1 / collagen type IX alpha 1 chain
  
Possible biological names infered from orthology : P20849
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: A5
Gene start: 24177610
Gene end: 24252684
  
Corresponding Affymetrix probe sets: 10345101 (MoGene1.0st)   1421381_a_at (Mouse Genome 430 2.0 Array)   1428571_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000051579
Ensembl peptide - ENSMUSP00000085687
NCBI entrez gene - 12839     See in Manteia.
MGI - MGI:88465
RefSeq - NM_001290691
RefSeq - NM_007740
RefSeq Peptide - NP_001277620
RefSeq Peptide - NP_031766
swissprot - Q9D0D2
swissprot - G3X995
Ensembl - ENSMUSG00000026147
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col9a1aENSDARG00000073699Danio rerio
 col9a1bENSDARG00000031483Danio rerio
 COL9A1ENSGALG00000015970Gallus gallus
 COL9A1ENSG00000112280Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Col9a2 / collagen type IX alpha 2 chain / Q14055*ENSMUSG0000002862640
Col9a3 / collagen, type IX, alpha 3 / Q14050* / collagen type IX alpha 3 chain*ENSMUSG0000002757036
Q9R1N9 / Col13a1 / Collagen alpha-1(XIII) chain / Q5TAT6* / collagen type XIII alpha 1 chain*ENSMUSG0000005880626
Q99MQ5 / Col25a1 / Collagen alpha-1(XXV) chain Collagen-like Alzheimer amyloid plaque component / Q9BXS0* / collagen type XXV alpha 1 chain*ENSMUSG0000005889723
Q8K4G2 / Col23a1 / Collagen alpha-1(XXIII) chain / Q86Y22* / collagen type XXIII alpha 1 chain*ENSMUSG0000006356421


Protein motifs (from Interpro)
Interpro ID Name
 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
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005594 collagen type IX trimer IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000558 abnormal tibia morphology "atructural anomaly of the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0002898 absent cartilage "absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0002999 abnormal bone healing "defects in the restoration of integrity to bone after trauma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0003149 abnormal tectorial membrane morphology "malformation, malfunction or absence of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:77634]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0003560 osteoarthritis "a type of arthritis that is caused by the breakdown and eventual loss of the cartilage of one or more joints" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95374]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

Allelic Composition: Col9a1tm1Jae/Col9a1tm1Jae
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Col2a1tm1Prc/Col2a1+,Col9a1tm1Jae/Col9a1tm1Jae
Genetic Background: involves: 129/Sv * 129S2/SvPas

 MP:0004591 enlarged tectorial membrane "increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0005353 abnormal patella morphology "anomalous structure of the large sesamoid bone that covers the anterior surface of the knee" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:47316]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0006433 abnormal articular cartilage morphology "any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone" [ISBN:0-8036-0655-9 "Taber s Cyclopedic Medical Dictionary", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0014091 abnormal tectorial membrane striated-sheet matrix morphology "any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in parallel within the plane of each sheet and are extensively linked along their length by staggered cross bridges; it originates medially within the sulcal zone, extends to the marginal band and is particularly evident in apical regions of the cochlea, where it has a less compressed appearance" [PMID:18797289, PMID:24363064]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

 MP:0014100 increased chondrocyte proliferation "increased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population" [GO:0035988]
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Allelic Composition: Adamts20bt/Adamts20bt
Genetic Background: DBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000028626 Col9a2 / collagen type IX alpha 2 chain / Q14055*  / complex
 ENSMUSG00000027570 Col9a3 / collagen, type IX, alpha 3 / Q14050* / collagen type IX alpha 3 chain*  / complex






 

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