ENSMUSG00000030516


Mus musculus

Features
Gene ID: ENSMUSG00000030516
  
Biological name :Tjp1
  
Synonyms : P39447 / tight junction protein 1 / Tjp1
  
Possible biological names infered from orthology : Q07157
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: C
Gene start: 65296165
Gene end: 65527781
  
Corresponding Affymetrix probe sets: 10564343 (MoGene1.0st)   1417749_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000145910
Ensembl peptide - ENSMUSP00000146149
Ensembl peptide - ENSMUSP00000032729
Ensembl peptide - ENSMUSP00000099652
NCBI entrez gene - 21872     See in Manteia.
MGI - MGI:98759
RefSeq - XM_011250843
RefSeq - XM_006540781
RefSeq - XM_006540782
RefSeq - XM_006540783
RefSeq - XM_006540784
RefSeq - XM_006540785
RefSeq - XM_006540786
RefSeq - NM_001163574
RefSeq - NM_009386
RefSeq - XM_006540778
RefSeq - XM_006540779
RefSeq - XM_006540780
RefSeq Peptide - NP_001157046
RefSeq Peptide - NP_033412
swissprot - B9EHJ3
swissprot - A0A0U1RPW2
swissprot - P39447
swissprot - A0A0U1RPB2
Ensembl - ENSMUSG00000030516
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tjp1aENSDARG00000077506Danio rerio
 tjp1bENSDARG00000079374Danio rerio
 TJP1ENSGALG00000042552Gallus gallus
 TJP1ENSG00000104067Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tjp2 / Q9Z0U1 / Tight junction protein ZO-2 / Q9UDY2* / AL358113.1* / tight junction protein 2*ENSMUSG0000002481231
Tjp3 / tight junction protein 3 / O95049*ENSMUSG0000003491722
Dlg5 / E9Q9R9 / Disks large homolog 5 / Q8TDM6* / discs large MAGUK scaffold protein 5*ENSMUSG0000002178212
Dlg3 / P70175 / Disks large homolog 3 / Q92796* / discs large MAGUK scaffold protein 3*ENSMUSG000000008819
Dlg2 / Q91XM9 / Disks large homolog 2 / Q15700* / discs large MAGUK scaffold protein 2*ENSMUSG000000525729
Dlg1 / Q811D0 / Disks large homolog 1 / Q12959* / discs large MAGUK scaffold protein 1*ENSMUSG000000227709
Dlg4 / Q62108 / Disks large homolog 4 / P78352* / discs large MAGUK scaffold protein 4*ENSMUSG000000208869
Mpp7 / MAGUK p55 subfamily member 7 isoform 2 / Q5T2T1* / membrane palmitoylated protein 7*ENSMUSG000000574407
Mpp3 / membrane palmitoylated protein 3 / Q13368*ENSMUSG000000523736
Mpp4 / Q6P7F1 / MAGUK p55 subfamily member 4 / Q96JB8* / membrane palmitoylated protein 4*ENSMUSG000000795506
Cask / O70589 / Peripheral plasma membrane protein CASK / O14936* / calcium/calmodulin dependent serine protein kinase*ENSMUSG000000310126
Mpp2 / Q9WV34 / Mus musculus membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (Mpp2), transcript variant 1, mRNA. / Q14168* / membrane palmitoylated protein 2*ENSMUSG000000173146
Mpp5 / Q9JLB2 / membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) / Q8N3R9* / membrane palmitoylated protein 5*ENSMUSG000000211126
Mpp1 / P70290 / membrane protein, palmitoylated / Q00013* / membrane palmitoylated protein 1*ENSMUSG000000314025
Mpp6 / Q9JLB0 / membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) / Q9NZW5* / membrane palmitoylated protein 6*ENSMUSG000000383885
Guk1 / guanylate kinase 1 / Q16774*ENSMUSG000000204442


Protein motifs (from Interpro)
Interpro ID Name
 IPR000906  ZU5 domain
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR005417  Tight junction protein ZO
 IPR005418  Tight junction protein ZO-1
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035597  ZO-1, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001825 blastocyst formation IMP
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043116 negative regulation of vascular permeability IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0071000 response to magnetism IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0090557 establishment of endothelial intestinal barrier ISO
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005912 adherens junction IDA
 cellular_componentGO:0005913 cell-cell adherens junction IDA
 cellular_componentGO:0005921 gap junction IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0009986 cell surface ISO
 cellular_componentGO:0014704 intercalated disc IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016323 basolateral plasma membrane ISO
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0016327 apicolateral plasma membrane IDA
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0031674 I band IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0043296 apical junction complex ISO
 cellular_componentGO:0045177 apical part of cell ISO
 cellular_componentGO:0046581 intercellular canaliculus IDA
 cellular_componentGO:0070160 occluding junction IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0045296 cadherin binding ISO
 molecular_functionGO:0071253 connexin binding IPI


Pathways (from Reactome)
Pathway description
c-src mediated regulation of Cx43 function and closure of gap junctions
Signaling by Hippo
Apoptotic cleavage of cell adhesion proteins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 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: Apoetm1Unc/Apoetm1Unc,Scarb1tm1Kri/Scarb1tm1Kri
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0002825 abnormal notochord "malformation or absence of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0003891 increased allantois apoptosis "increase in the number of cells of the allantois undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0004194 abnormal kidney pelvis morphology "any structural anomaly of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0004557 dilated allantois "an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0004969 pale kidney "kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0008059 abnormal podocyte foot process morphology "any structural anomaly 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"]
Show

Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0008060 abnormal podocyte slit diaphragm morphology "any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0008061 absent podocyte slit diaphragm "absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 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"]
Show

Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 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: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0008803 abnormal placental labyrinth vasculature morphology "any structural anomaly in blood vessels of the layer of the placenta where embryonic and maternal blood vessels interdigitate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0009577 abnormal developmental vascular remodeling "any anomaly in the process by which existing vessels are reorganized during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0009657 failure of chorioallantoic fusion "failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0011304 kidney papillary atrophy "acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0011402 renal cast "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0011409 increased renal glomerulus basement membrane thickness "increased width 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" [MGI:anna]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0011534 granular kidney "a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis" [MGI:anna]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0011855 abnormal glomerular filtration barrier morphology "any structural anomaly of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte)" [MGI:anna]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0011869 detached podocyte "detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine" [MGI:anna]
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Allelic Composition: Sostdc1tm2Snd/Sostdc1tm2Snd
Genetic Background: involves: 129S/SvEv

 MP:0012505 increased neural tube apoptosis "increase in the number of cells of the neural tube undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
Show

Allelic Composition: Tjp1tm1Sats/Tjp1+
Genetic Background: B6.Cg-Tjp1tm1Sats

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027803 Wwtr1 / Q9EPK5 / WW domain containing transcription regulator 1 / Q9GZV5*  / reaction / complex
 ENSMUSG00000027646 Src / P05480 / Neuronal proto-onco tyrosine-protein kinase Src / P12931* / SRC proto-oncogene, non-receptor tyrosine kinase*  / complex / reaction
 ENSMUSG00000050953 Gja1 / P23242 / gap junction protein, alpha 1 / P17302*  / complex
 ENSMUSG00000030516 Tjp1 / P39447 / tight junction protein 1 / Q07157*  / complex
 ENSMUSG00000031628 Casp3 / P70677 / Caspase-3 Caspase-3 subunit p17 Caspase-3 subunit p12 / P42574* / caspase 3*  / reaction






 

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