ENSMUSG00000025064


Mus musculus

Features
Gene ID: ENSMUSG00000025064
  
Biological name :Col17a1
  
Synonyms : Col17a1 / Collagen alpha-1(XVII) chain 120 kDa linear IgA disease antigen homolog / Q07563
  
Possible biological names infered from orthology : collagen type XVII alpha 1 chain / Q9UMD9
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: D1
Gene start: 47646344
Gene end: 47692094
  
Corresponding Affymetrix probe sets: 10468344 (MoGene1.0st)   1418799_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026045
Ensembl peptide - ENSMUSP00000084141
NCBI entrez gene - 12821     See in Manteia.
MGI - MGI:88450
RefSeq - NM_001290825
RefSeq - NM_007732
RefSeq Peptide - NP_001277754
RefSeq Peptide - NP_031758
swissprot - Q07563
Ensembl - ENSMUSG00000025064
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col17a1aENSDARG00000069415Danio rerio
 col17a1bENSDARG00000079011Danio rerio
 COL17A1ENSGALG00000029617Gallus gallus
 Q9UMD9ENSG00000065618Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q2UY11 / Col28a1 / Collagen alpha-1(XXVIII) chain / Q2UY09* / collagen type XXVIII alpha 1 chain*ENSMUSG0000006879419
Col6a1 / Q04857 / Collagen alpha-1(VI) chain / P12109* / collagen type VI alpha 1 chain*ENSMUSG0000000111915
Col6a2 / Q02788 / Mus musculus collagen, type VI, alpha 2 (Col6a2), transcript variant 2, mRNA. / P12110* / collagen type VI alpha 2 chain*ENSMUSG0000002024113
Q8C850 / Scara3 / Scavenger receptor class A member 3 / Q6AZY7*ENSMUSG000000344639
Q8K4Q8 / Colec12 / Collectin-12 / Q5KU26* / collectin subfamily member 12*ENSMUSG000000361039
Colq / O35348 / Acetylcholinesterase collagenic tail peptide / Q9Y215* / collagen like tail subunit of asymmetric acetylcholinesterase*ENSMUSG000000576069


Protein motifs (from Interpro)
Interpro ID Name
 IPR008160  Collagen triple helix repeat
 IPR016133  Insect cysteine-rich antifreeze protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0031581 hemidesmosome assembly ISS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030056 hemidesmosome IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Type I hemidesmosome assembly
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000219 increased neutrophil count "greater than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0000220 increased monocyte count "greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0000418 patchy hair "uneven spots of hair growth on the body" [J:26975]
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Allelic Composition: Mapk4tm1Melo/Mapk4tm1Melo,Mapk6tm1Melo/Mapk6tm1Melo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0001190 reddish skin "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [J:65038]
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Allelic Composition: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 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: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 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: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Col17a1tm1Shzu/Col17a1tm1Shzu,Tg(KRT14-COL17A1)1Shzu/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
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Allelic Composition: Col17a1tm1Shzu/Col17a1tm1Shzu,Tg(KRT14-COL17A1)1Shzu/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 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: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 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: Mapk4tm1Melo/Mapk4tm1Melo,Mapk6tm1Melo/Mapk6tm1Melo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001412 excessive scratching "compulsive scraping of the skin, usually with the nails" [J:61340]
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Allelic Composition: Nodaltm1Rob/Nodal+,Smad2tm1.1Epb/Smad2+
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J * SJL

 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: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0001919 abnormal reproductive system physiology "anomaly in the function of the organs associated with producing offspring " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002060 abnormal skin morphology "malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Nodaltm1Rob/Nodal+,Smad2tm1.1Epb/Smad2+
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J * SJL

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mapk4tm1Melo/Mapk4tm1Melo,Mapk6tm1Melo/Mapk6tm1Melo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nodaltm1Rob/Nodal+,Smad2tm1.1Epb/Smad2+
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6J * SJL

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002497 increased IgE "greater than normal immunoglobulin class E level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0002606 increased basophil count "higher than average number of basophils as measured by the percent of the total number of leukocytes" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, MPD:Mouse Phenome Database]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0003725 increased autoantibody level "elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, acv:Alicia Valenzuela, Genetic Resources Curator]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0003726 decreased autoantibody level "reduced level of antibodies to self-antigens present in the sera" [acv:Alicia Valenzuela, Genetic Resources Curator, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Col17a1tm1Shzu/Col17a1tm1Shzu,Tg(KRT14-COL17A1)1Shzu/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr

 MP:0004272 abnormal basement membrane morphology "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]
Show

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0004947 skin inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0005011 increased eosinophil count "greater than normal eosinophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0010072 increased pruritus "abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 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]
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Allelic Composition: Gli3tm2Blnw/Gli3+,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0011159 abnormal epidermal-dermal junction morphology "any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction" [PMID:1097542]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 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: Col17a1tm1Shzu/Col17a1tm1Shzu,Tg(KRT14-COL17A1)1Shzu/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr

 MP:0011348 abnormal renal glomerulus basement membrane morphology "any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0011703 increased fibroblast proliferation "greater the expansion rate of a fibroblast cell population by cell division" [MGI:csmith]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6

 MP:0011871 podocyte hypertrophy "increase in the bulk size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, due to cell enlargement" [MGI:anna]
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Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026639 Lamb3 / Q61087 / Laminin subunit beta-3 / Q13751*  / complex / reaction
 ENSMUSG00000026479 Lamc2 / laminin subunit gamma 2 / Q13753*  / reaction / complex
 ENSMUSG00000024421 Lama3 / Q61789 / Mus musculus laminin, alpha 3 (Lama3), transcript variant 2, mRNA. / Q16787* / laminin subunit alpha 3*  / reaction / complex
 ENSMUSG00000022565 Plec / Q9QXS1 / plectin / Q15149*  / reaction / complex
 ENSMUSG00000020758 Itgb4 / A2A863 / Integrin beta-4 / P16144* / integrin subunit beta 4*  / complex / reaction
 ENSMUSG00000027111 Itga6 / Q61739 / Integrin alpha-6 Integrin alpha-6 heavy chain Integrin alpha-6 light chain / P23229* / integrin subunit alpha 6*  / reaction / complex
 ENSMUSG00000025510 Cd151 / O35566 / CD151 antigen / P48509* / CD151 molecule (Raph blood group)*  / complex / reaction






 

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