ENSMUSG00000024772


Mus musculus

Features
Gene ID: ENSMUSG00000024772
  
Biological name :Ehd1
  
Synonyms : Ehd1 / EH domain-containing protein 1 / Q9WVK4
  
Possible biological names infered from orthology : EH domain containing 1 / Q9H4M9
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: A
Gene start: 6276725
Gene end: 6300096
  
Corresponding Affymetrix probe sets: 10460833 (MoGene1.0st)   1416010_a_at (Mouse Genome 430 2.0 Array)   1416011_x_at (Mouse Genome 430 2.0 Array)   1416012_at (Mouse Genome 430 2.0 Array)   1448175_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025684
NCBI entrez gene - 13660     See in Manteia.
MGI - MGI:1341878
RefSeq - NM_010119
RefSeq Peptide - NP_034249
swissprot - Q80ZZ0
swissprot - Q9WVK4
Ensembl - ENSMUSG00000024772
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ehd1aENSDARG00000098853Danio rerio
 ehd1bENSDARG00000014793Danio rerio
 EHD1ENSG00000110047Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ehd3 / Q9QXY6 / EH domain-containing protein 3 / Q9NZN3* / EH domain containing 3*ENSMUSG0000002406586
Ehd4 / Q9EQP2 / EH domain-containing protein 4 / Q9H223* / EH domain containing 4*ENSMUSG0000002729375
Ehd2 / Q8BH64 / EH domain-containing protein 2 / Q9NZN4* / EH domain containing 2*ENSMUSG0000007436472
Srl / Q7TQ48 / Sarcalumenin / Q86TD4*ENSMUSG0000002251926
Itsn1 / Q9Z0R4 / Intersectin-1 / Q15811*ENSMUSG0000002295717
Itsn2 / intersectin 2 / Q9NZM3*ENSMUSG0000002064017
Eps15 / P42567 / Epidermal growth factor receptor substrate 15 / P42566* / epidermal growth factor receptor pathway substrate 15*ENSMUSG0000002855216
Q60902 / Eps15l1 / Epidermal growth factor receptor substrate 15-like 1 / Q9UBC2* / epidermal growth factor receptor pathway substrate 15 like 1*ENSMUSG0000000627616
Reps1 / O54916 / RalBP1-associated Eps domain-containing protein 1 / Q96D71* / RALBP1 associated Eps domain containing 1*ENSMUSG0000001985411
Reps2 / RALBP1 associated Eps domain containing protein 2 / Q8NFH8* / RALBP1 associated Eps domain containing 2*ENSMUSG000000408559


Protein motifs (from Interpro)
Interpro ID Name
 IPR000261  EH domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR022812  Dynamin superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain
 IPR031692  EH domain-containing protein, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport ISO
 biological_processGO:0006897 endocytosis ISO
 biological_processGO:0010886 positive regulation of cholesterol storage IMP
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016197 endosomal transport IDA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0032456 endocytic recycling ISO
 biological_processGO:0034383 low-density lipoprotein particle clearance IMP
 biological_processGO:0042632 cholesterol homeostasis IMP
 biological_processGO:0051260 protein homooligomerization ISO
 biological_processGO:0060271 cilium assembly ISO
 biological_processGO:0061512 protein localization to cilium ISS
 biological_processGO:1901741 positive regulation of myoblast fusion IMP
 biological_processGO:1990090 cellular response to nerve growth factor stimulus IEA
 biological_processGO:2001137 positive regulation of endocytic recycling IMP
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005811 lipid droplet IDA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0020018 ciliary pocket membrane ISO
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0031095 platelet dense tubular network membrane IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031901 early endosome membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0055038 recycling endosome membrane ISS
 cellular_componentGO:0060170 ciliary membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0017137 Rab GTPase binding ISO
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0045296 cadherin binding ISO
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * 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: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 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: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

Allelic Composition: Ehd1tm1.2Haba/Ehd1tm1.2Haba
Genetic Background: FVB.Cg-Ehd1tm1.2Haba

 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: Foxa1tm1Gsc/Foxa1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002208 abnormal germ cell morphology "anomalous structure of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0003019 increased circulating chloride level "elevated concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Dusp1tm1(KOMP)Wtsi/Dusp1tm1(KOMP)Wtsi
Genetic Background: C57BL/6N-Dusp1tm1(KOMP)Wtsi/Wtsi

 MP:0003091 abnormal cell migration "defect in the movement of cells during developmental processes" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Arsbtm1Cptr/Arsbtm1Cptr
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0003671 abnormal eyelid opening 
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

Allelic Composition: Ehd1tm1a(EUCOMM)Wtsi/Ehd1tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ehd1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0004182 abnormal spermiation "failure of mature spermatozoa to release from supporting Sertoli cells into the lumen of seminiferous tubules" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

Allelic Composition: Ehd1tm1.2Haba/Ehd1tm1.2Haba
Genetic Background: FVB.Cg-Ehd1tm1.2Haba

 MP:0005159 azoospermia "absence of living spermatozoa " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0005169 abnormal male meiosis "malfunction in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dusp1tm1(KOMP)Wtsi/Dusp1tm1(KOMP)Wtsi
Genetic Background: C57BL/6N-Dusp1tm1(KOMP)Wtsi/Wtsi

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Arsbtm1Cptr/Arsbtm1Cptr
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0006378 abnormal spermatogonia morphology "anomaly in the number, structure or development of the large unspecialized male germ cells that give rise to spermatocytes" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * 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: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0008279 arrest of spermiogenesis "block in the process by which a spermatid transforms into a functional spermatozoon" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0008280 male germ cell apoptosis "presence of male germs cells that undergo programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0008898 abnormal acrosome morphology "any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0009851 abnormal Sertoli cell phagocytosis "altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * 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: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

Allelic Composition: Ehd1tm1.2Haba/Ehd1tm1.2Haba
Genetic Background: FVB.Cg-Ehd1tm1.2Haba

 MP:0011090 partial perinatal 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 perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0011708 decreased fibroblast cell migration "reduced frequency of or less rapid cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith]
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Allelic Composition: Arsbtm1Cptr/Arsbtm1Cptr
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000014550 Rbsn / Q80Y56 / Rabenosyn-5 / Q9H1K0* / rabenosyn, RAB effector*  / complex / reaction






 

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