ENSMUSG00000070047


Mus musculus

Features
Gene ID: ENSMUSG00000070047
  
Biological name :Fat1
  
Synonyms : Fat1 / FAT atypical cadherin 1
  
Possible biological names infered from orthology : Q14517
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: B1.1
Gene start: 44935447
Gene end: 45052257
  
Corresponding Affymetrix probe sets: 10571530 (MoGene1.0st)   1433857_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000149194
Ensembl peptide - ENSMUSP00000139921
Ensembl peptide - ENSMUSP00000140596
Ensembl peptide - ENSMUSP00000140765
Ensembl peptide - ENSMUSP00000096394
NCBI entrez gene - 14107     See in Manteia.
MGI - MGI:109168
RefSeq - XM_017312564
RefSeq - XM_006509273
RefSeq - XM_006509274
RefSeq - XM_006509276
RefSeq - XM_006509277
RefSeq - XM_011242173
RefSeq - NM_001081286
RefSeq - XM_006509267
RefSeq - XM_006509268
RefSeq - XM_006509270
RefSeq - XM_006509271
RefSeq - XM_006509272
RefSeq Peptide - NP_001074755
swissprot - A0A1L1SQU7
swissprot - F2Z4A3
swissprot - A0A087WRT4
swissprot - A0A087WPU4
Ensembl - ENSMUSG00000070047
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fat1aENSDARG00000017591Danio rerio
 fat1bENSDARG00000019063Danio rerio
 FAT1ENSGALG00000013579Gallus gallus
 FAT1ENSG00000083857Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fat3 / FAT atypical cadherin 3 / Q8TDW7*ENSMUSG0000007450552
Fat2 / Q5F226 / Protocadherin Fat 2 / Q9NYQ8* / FAT atypical cadherin 2*ENSMUSG0000005533342
Fat4 / Q2PZL6 / Protocadherin Fat 4 / Q6V0I7* / FAT atypical cadherin 4*ENSMUSG0000004674324
Dchs1 / E9PVD3 / Protocadherin-16 / Q96JQ0* / dachsous cadherin-related 1*ENSMUSG0000003686219
Cdh23 / Q99PF4 / Cadherin-23 / Q9H251* / cadherin related 23*ENSMUSG0000001281919
Dchs2 / Mus musculus dachsous cadherin related 2 (Dchs2), mRNA.ENSMUSG0000010269219
Celsr3 / Q91ZI0 / Cadherin EGF LAG seven-pass G-type receptor 3 / Q9NYQ7*ENSMUSG0000002347313
Celsr2 / cadherin EGF LAG seven-pass G-type receptor 2 isoform 2 / Q9HCU4* / cadherin EGF LAG seven-pass G-type receptor 2*ENSMUSG0000006874013
Celsr1 / O35161 / Cadherin EGF LAG seven-pass G-type receptor 1 / Q9NYQ6*ENSMUSG0000001602813


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR001881  EGF-like calcium-binding domain
 IPR002126  Cadherin
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR015919  Cadherin-like
 IPR018097  EGF-like calcium-binding, conserved site
 IPR020894  Cadherin conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA
 biological_processGO:0007163 establishment or maintenance of cell polarity IMP
 biological_processGO:0098609 cell-cell adhesion IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005911 cell-cell junction ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030054 cell junction IDA
 cellular_componentGO:0030175 filopodium IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISO
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0000733 abnormal muscle development "anomalous differentiation of muscle tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Fat1tm1Fhel/Fat1tm1Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Fat1tm1Fhel/Fat1tm1Fhel,Pax3tm1(cre)Joe/Pax3+,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Fat1tm1Fhel/Fat1tm1Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Fat1tm1Fhel/Fat1tm1Fhel,Pax3tm1(cre)Joe/Pax3+,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

 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: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Nhlh2tm2Thbr/Nhlh2tm2Thbr,Tg(Gnrh1-cre)1Dlc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0003078 aphakia "absence of the crystalline lens of the eye" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0003099 retinal detachment "detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:83544]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0004038 lymphangiectasis "dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:71816]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0004510 myositis "inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle" [MESH:C05.651.594]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0005163 cyclopia "a congenital defect in which the two orbits are united to form a single cavity containing one eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60303]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0005261 aniridia "abnormality in which there is only a rudimentary iris, due to the failure of optic cup growth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0005548 retinal pigment epithelium atrophy "wasting or decreased size of the epithelial layer of the retina composed of cells containing pigment granules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0006290 proboscis "a long, cylindric protuberance of the face that, in cyclopia or ethmocephaly, represents the nose" [J:92058, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0008062 abnormal podocyte slit junction morphology "any structural anomaly in the gaps between the interdigitated foot processes of the podocyte" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0008065 short endolymphatic duct "length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0008139 fused podocyte foot processes "coalescence 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: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0009414 skeletal muscle fiber necrosis "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0009417 skeletal muscle atrophy "a wasting of skeletal muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0010056 ectopic skeletal muscle "skeletal muscle is located in a position not normally occupied by this tissue type" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fat1tm1Fhel/Fat1tm1Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Fat1tm1Fhel/Fat1tm1Fhel,Pax3tm1(cre)Joe/Pax3+,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0010452 retina microaneurysm "focal dilation of arteriocapillary junctions in the retina" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Fat1Gt(KST249)Byg/Fat1Gt(KST249)Byg,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129P2/OlaHsd

 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: Cdc7tm1Hmas/Cdc7tm1Hmas,Trp53tm2Mok/Trp53tm2Mok
Genetic Background: involves: 129S/Sv * C57BL/6

 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: Coq7tm1Hek/Coq7+
Genetic Background: B6.129-Coq7tm1Hek

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0030039 abnormal facial muscle morphology "any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch" [https://en.wikipedia.org/wiki/Facial_muscles]
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Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

  


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






 

0 s.

 
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