ENSMUSG00000040268


Mus musculus

Features
Gene ID: ENSMUSG00000040268
  
Biological name :Plekha1
  
Synonyms : Pleckstrin homology domain-containing family A member 1 / Plekha1 / Q8BUL6
  
Possible biological names infered from orthology : pleckstrin homology domain containing A1 / Q9HB21
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F3
Gene start: 130865756
Gene end: 130913312
  
Corresponding Affymetrix probe sets: 10558134 (MoGene1.0st)   1417965_at (Mouse Genome 430 2.0 Array)   1443111_at (Mouse Genome 430 2.0 Array)   1457491_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000114411
Ensembl peptide - ENSMUSP00000112777
Ensembl peptide - ENSMUSP00000123600
Ensembl peptide - ENSMUSP00000146948
Ensembl peptide - ENSMUSP00000035375
Ensembl peptide - ENSMUSP00000074675
NCBI entrez gene - 101476     See in Manteia.
MGI - MGI:2442213
RefSeq - XM_017321904
RefSeq - XM_006507147
RefSeq - XM_006507148
RefSeq - XM_006507149
RefSeq - XM_006507150
RefSeq - XM_006507151
RefSeq - XM_006507152
RefSeq - XM_006507153
RefSeq - NM_133942
RefSeq - XM_006507140
RefSeq - XM_006507141
RefSeq - XM_006507142
RefSeq - XM_006507143
RefSeq - XM_006507145
RefSeq - XM_006507146
RefSeq Peptide - NP_598703
RefSeq Peptide - NP_001333444
swissprot - D3YU01
swissprot - D6RCU3
swissprot - Q8BUL6
swissprot - A0A140LIT3
swissprot - F6YLP9
Ensembl - ENSMUSG00000040268
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 PLEKHA1ENSGALG00000034548Gallus gallus
 Q9HB21ENSG00000107679Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9ERS5 / Plekha2 / Pleckstrin homology domain-containing family A member 2 / pleckstrin homology domain containing A2*ENSMUSG0000003155747


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR011993  PH-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001553 luteinization IGI
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0008209 androgen metabolic process IMP
 biological_processGO:0008210 estrogen metabolic process IGI
 biological_processGO:0008585 female gonad development IGI
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling ISO
 biological_processGO:0031529 ruffle organization ISO
 biological_processGO:0033327 Leydig cell differentiation IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0045184 establishment of protein localization ISO
 biological_processGO:0048008 platelet-derived growth factor receptor signaling pathway IMP
 biological_processGO:0048705 skeletal system morphogenesis IMP
 biological_processGO:0050853 B cell receptor signaling pathway ISO
 biological_processGO:0051898 negative regulation of protein kinase B signaling ISO
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:0060325 face morphogenesis IMP
 biological_processGO:0070301 cellular response to hydrogen peroxide ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IBA
 cellular_componentGO:0032587 ruffle membrane ISO
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0030165 PDZ domain binding ISO
 molecular_functionGO:0035091 phosphatidylinositol binding IBA
 molecular_functionGO:0043325 phosphatidylinositol-3,4-bisphosphate binding ISO


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000091 short premaxilla "reduced length of the anterior and interior portion of the maxilla" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000097 short maxilla "reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000107 abnormal frontal bone morphology "malformed bone forming the forehead and part of the eye orbit" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000108 midline facial cleft "incomplete merging or fusion of the tissues normally uniting to form the face" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001121 uterine hypoplasia "reduced size of the uterus due to decreased cell number" [J:45065]
Show

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0001126 abnormal ovary morphology "malformed female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001127 small ovary "reduced size of the female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001134 absent corpora lutea "missing yellow endocrine body formed in the ovary after follicle rupture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Arid5bGt(ROSA)75Sor/Arid5bGt(ROSA)75Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

Allelic Composition: Pdgfrbtm1Sor/Pdgfrb+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor * 129S7/SvEvBrd) or (involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6)

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Arid5bGt(ROSA)75Sor/Arid5bGt(ROSA)75Sor
Genetic Background: involves: 129S4/SvJaeSor

 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: Amhr2tm3(cre)Bhr/Amhr2+,Ctnnb1tm1Mmt/Ctnnb1+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * 129X1/SvJ

 MP:0002780 decreased circulating testosterone level "less than the normal blood concentration of this most potent androgen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Ctnnb1tm1Mmt/Ctnnb1+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * 129X1/SvJ

 MP:0004471 short nasal bone "reduced length of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0005181 decreased circulating estradiol level "less than the normal blood concentration of this most potent naturally occurring estrogen in mammals" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

 MP:0005536 Leydig cell hypoplasia "reduced numbers of the interstitial cells of the seminiferous tubules that secrete testosterone" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0005592 abnormal vascular smooth muscle morphology "structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0006379 abnormal spermatocyte morphology "anomaly in the number or structure of male germ cells that through meiosis give rise to spermatids " [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0006418 abnormal testis cord formation "any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J * CD-1

 MP:0008869 anovulation "complete failure of ovum to be released from an ovarian follicle" [MESH:C13.351.500.056.630.050, MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0009370 decreased thecal cell number "fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0011129 decreased secondary ovarian follicle number "fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:csmith]
Show

Allelic Composition: Pdgfratm1Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0030018 increased cardiac cell glucose uptake "increased ability of the cells of the heart to take in glucose" [MGI:anna]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Ctnnb1tm1Mmt/Ctnnb1+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * 129X1/SvJ

 MP:0030021 increased muscle cell glucose uptake "increased ability of muscle cells to take in glucose" [MGI:anna]
Show

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Ctnnb1tm1Mmt/Ctnnb1+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * 129X1/SvJ

 MP:0030189 broad snout "increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:anna]
Show

Allelic Composition: Pdgfratm2Sor/Pdgfra+,Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor
Genetic Background: involves: 129S4/SvJaeSor

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034573 Ptpn13 / protein tyrosine phosphatase, non-receptor type 13 / Q12923*  / complex






 

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