ENSMUSG00000038298


Mus musculus

Features
Gene ID: ENSMUSG00000038298
  
Biological name :Pdzk1
  
Synonyms : Na(+)/H(+) exchange regulatory cofactor NHE-RF3 / Pdzk1
  
Possible biological names infered from orthology : PDZ domain containing 1 / Q5T2W1
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: F2.1
Gene start: 96829284
Gene end: 96870926
  
Corresponding Affymetrix probe sets: 10494536 (MoGene1.0st)   1431701_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000102685
Ensembl peptide - ENSMUSP00000123166
Ensembl peptide - ENSMUSP00000118846
Ensembl peptide - ENSMUSP00000115584
Ensembl peptide - ENSMUSP00000114157
Ensembl peptide - ENSMUSP00000058936
Ensembl peptide - ENSMUSP00000102684
NCBI entrez gene - 59020     See in Manteia.
MGI - MGI:1928901
RefSeq - XM_017319675
RefSeq - NM_001146001
RefSeq - NM_021517
RefSeq - XM_006501833
RefSeq - XM_011240178
RefSeq Peptide - NP_001342639
RefSeq Peptide - NP_001139473
RefSeq Peptide - NP_067492
swissprot - D3YZS9
swissprot - D3YW13
swissprot - D3Z114
swissprot - A0A0R4J1V0
Ensembl - ENSMUSG00000038298
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdzk1ENSDARG00000022261Danio rerio
 PDZK1ENSGALG00000015492Gallus gallus
 PDZK1ENSG00000174827Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pdzd3 / PDZ domain containing 3 / Q86UT5*ENSMUSG0000003210527
P70441 / Slc9a3r1 / solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 / O14745* / SLC9A3 regulator 1*ENSMUSG0000002073321
Slc9a3r2 / solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 / Q15599* / SLC9A3 regulator 2*ENSMUSG0000000250418


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0015879 carnitine transport IEA
 biological_processGO:0032414 positive regulation of ion transmembrane transporter activity IEA
 biological_processGO:1904064 positive regulation of cation transmembrane transport IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031528 microvillus membrane IEA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0005124 scavenger receptor binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030165 PDZ domain binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000222 decreased neutrophil count "fewer than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Padi6tm1b(KOMP)Wtsi/Padi6tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Padi6tm1b(KOMP)Wtsi/Ucd

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Hhiptm1Amc/Hhiptm1Amc,Ptch1tm1Mps/Ptch1tm1Mps,Tg(Mt1-Ptch1)MT22Mps/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0001879 abnormal lymphatic vessel morphology "malformation of the network of vessels which carries lymph around the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0003686 abnormal eye muscle morphology "malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0003826 abnormal Mullerian duct morphology "malformation of the transient embryonic tubes that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0003827 abnormal Wolffian duct morphology "malformation of the transient embryonic tubes that empty into the cloca and degenerate in the male " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0004613 fusion of vertebral arches "improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0005014 increased B cell number "greater than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Padi6tm1b(KOMP)Wtsi/Padi6tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Padi6tm1b(KOMP)Wtsi/Ucd

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abca1tm1Wpfl/Abca1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005416 abnormal circulating protein level "anomalous blood concentration of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hhiptm1Amc/Hhiptm1Amc,Ptch1tm1Mps/Ptch1tm1Mps,Tg(Mt1-Ptch1)MT22Mps/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

 MP:0008097 increased plasma cell number "greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Padi6tm1b(KOMP)Wtsi/Padi6tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Padi6tm1b(KOMP)Wtsi/Ucd

 MP:0010404 ostium primum atrial septal defect "interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0010440 anomalous pulmonary venous connection "abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery" [http://emedicine.medscape.com]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013840 absent segment of posterior cerebral artery "absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain" [UBERON:0001636]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013848 subcutaneous edema "accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013859 abnormal vitelline vein connection "aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo" [ISBN:0-683-40008-8, MGI:csmith]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013967 abnormal infrahyoid muscle connection 
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013970 absent connection between subcutaneous lymph vessels and lymph sac 
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013971 blood in lymph vessels 
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013977 symmetric azygos veins 
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0013981 double lumen aortic arch 
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

 MP:0014001 abnormal vertebral artery topology "abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]
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Allelic Composition: Esr2tm1.1Gust/Esr2tm1.1Gust
Genetic Background: B6J.129X1(Cg)-Esr2tm1.1Gust

  


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






 

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