ENSMUSG00000025650


Mus musculus

Features
Gene ID: ENSMUSG00000025650
  
Biological name :Col7a1
  
Synonyms : Col7a1 / Collagen alpha-1(VII) chain / Q63870
  
Possible biological names infered from orthology : collagen type VII alpha 1 chain / Q02388
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: F2
Gene start: 108953586
Gene end: 108984875
  
Corresponding Affymetrix probe sets: 10589212 (MoGene1.0st)   1419613_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026740
Ensembl peptide - ENSMUSP00000107701
NCBI entrez gene - 12836     See in Manteia.
MGI - MGI:88462
RefSeq - XM_006511937
RefSeq - NM_007738
RefSeq - XM_006511935
RefSeq Peptide - NP_031764
swissprot - Q63870
Ensembl - ENSMUSG00000025650
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col7a1ENSDARG00000021720Danio rerio
 ENSGALG00000005811Gallus gallus
 COL7A1ENSG00000114270Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80X19 / Col14a1 / Collagen alpha-1(XIV) chain / Q05707* / collagen type XIV alpha 1 chain*ENSMUSG0000002237117
Q60847 / Col12a1 / Collagen alpha-1(XII) chain / Q99715* / collagen type XII alpha 1 chain*ENSMUSG0000003233217
Col6a3 / collagen, type VI, alpha 3 / P12111* / collagen type VI alpha 3 chain*ENSMUSG0000004812614
A2AX52 / Col6a4 / Collagen alpha-4(VI) chain ENSMUSG0000003257213
Col6a5 / collagen type VI alpha 5 chain / A8TX70*ENSMUSG0000009134513
Q923P0 / Col20a1 / Collagen alpha-1(XX) chain / Q9P218* / collagen type XX alpha 1 chain*ENSMUSG0000001635612
Col6a6 / Q8C6K9 / Collagen alpha-6(VI) chain / A6NMZ7* / collagen type VI alpha 6 chain*ENSMUSG0000004371912
Vwa2 / Q70UZ7 / von Willebrand factor A domain containing 2 / Q5GFL6*ENSMUSG000000250826
Vit / Q8VHI5 / vitrin / Q6UXI7*ENSMUSG000000240763
Coch / Q62507 / Cochlin / O43405*ENSMUSG000000209532


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR002223  Pancreatic trypsin inhibitor Kunitz domain
 IPR003961  Fibronectin type III
 IPR008160  Collagen triple helix repeat
 IPR013783  Immunoglobulin-like fold
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR020901  Proteinase inhibitor I2, Kunitz, conserved site
 IPR036116  Fibronectin type III superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR036880  Pancreatic trypsin inhibitor Kunitz domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0035987 endodermal cell differentiation IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005604 basement membrane IDA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
COPII-mediated vesicle transport
Integrin cell surface interactions
Anchoring fibril formation
Laminin interactions
Cargo concentration in the ER
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Crybb20377/Crybb20377
Genetic Background: involves: C3H * C57BL/6Ei

Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0000579 abnormal nail morphology "structural or developmental anomaly of any of the thin, horny, translucent plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Crybb20377/Crybb20377
Genetic Background: involves: C3H * C57BL/6Ei

Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0000762 abnormal tongue morphology "anomalous structure or development of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 MP:0001191 abnormal skin condition "anomalous state of the skin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0001208 blistering "accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis" [J:65039]
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Allelic Composition: Gata1tm6Sho/Y
Genetic Background: involves: 129S1/Sv

Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Gata1tm6Sho/Y
Genetic Background: involves: 129S1/Sv

Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 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: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Crybb20377/Crybb20377
Genetic Background: involves: C3H * C57BL/6Ei

 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: Col7a1tm1Uit/Col7a1tm1Uit
Genetic Background: involves: 129S1/Sv

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Crybb20377/Crybb20377
Genetic Background: involves: C3H * C57BL/6Ei

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 MP:0003723 abnormal long bone morphology "malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 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"]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

 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: Gata1tm6Sho/Y
Genetic Background: involves: 129S1/Sv

Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit
Genetic Background: involves: 129S1/Sv

 MP:0011160 dermal-epidermal separation "the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis" [MGI:csmith]
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Allelic Composition: Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl

Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit
Genetic Background: involves: 129S1/Sv

 MP:0030101 carious teeth "formation of cavities in the teeth due to a multifactorial bacterial infection that causes demineralization and destruction of the hard tissues of the teeth (enamel, dentin and cementum), usually by production of acid by bacterial fermentation of the food debris accumulated on the tooth surface" [http://medical-dictionary.thefreedictionary.com/saprodontia, http://www.dictionary.com/browse/dental-caries, https://en.wikipedia.org/wiki/Tooth_decay]
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Allelic Composition: Col7a1tm1Uit/Col7a1tm1Uit,Tg(KRT14-COL7A1*)1Shzu/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000025650 Col7a1 / Q63870 / Collagen alpha-1(VII) chain / Q02388* / collagen type VII alpha 1 chain*  / - / complex






 

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