ENSMUSG00000035247


Mus musculus

Features
Gene ID: ENSMUSG00000035247
  
Biological name :Hectd1
  
Synonyms : E3 ubiquitin-protein ligase HECTD1 / Hectd1 / Q69ZR2
  
Possible biological names infered from orthology : HECT domain E3 ubiquitin protein ligase 1 / Q9ULT8
  
Species: Mus musculus
  
Chr. number: 12
Strand: -1
Band: B3
Gene start: 51743722
Gene end: 51829536
  
Corresponding Affymetrix probe sets: 10400210 (MoGene1.0st)   1424141_at (Mouse Genome 430 2.0 Array)   1438039_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000046766
Ensembl peptide - ENSMUSP00000136449
NCBI entrez gene - 207304     See in Manteia.
MGI - MGI:2384768
RefSeq - XM_017315008
RefSeq - NM_144788
RefSeq - XM_011244049
RefSeq - XM_011244050
RefSeq - XM_011244051
RefSeq Peptide - NP_659037
swissprot - Q69ZR2
swissprot - F8WIE5
Ensembl - ENSMUSG00000035247
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hectd1ENSDARG00000054213Danio rerio
 HECTD1ENSGALG00000009946Gallus gallus
 HECTD1ENSG00000092148Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
G5E870 / Trip12 / thyroid hormone receptor interactor 12 / Q14669*ENSMUSG0000002621913


Protein motifs (from Interpro)
Interpro ID Name
 IPR000569  HECT domain
 IPR002110  Ankyrin repeat
 IPR008979  Galactose-binding-like domain superfamily
 IPR010606  Mib-herc2
 IPR011989  Armadillo-like helical
 IPR012919  SUN domain
 IPR016024  Armadillo-type fold
 IPR020683  Ankyrin repeat-containing domain
 IPR035983  HECT, E3 ligase catalytic domain
 IPR036770  Ankyrin repeat-containing domain superfamily
 IPR037252  Mib/herc2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001779 natural killer cell differentiation IMP
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0001892 embryonic placenta development IMP
 biological_processGO:0003170 heart valve development IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0051865 protein autoubiquitination IMP
 biological_processGO:0060707 trophoblast giant cell differentiation IMP
 biological_processGO:0060708 spongiotrophoblast differentiation IMP
 biological_processGO:0070534 protein K63-linked ubiquitination IMP
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane IMP
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IDA


Pathways (from Reactome)
Pathway description
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 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: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0000109 abnormal parietal bone morphology "malformed curved bone forming part of the vault of the cranium" [J:17489]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Ift172wim/Ift172wim
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1opm
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

Allelic Composition: Hectd1opm/Hectd1+
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Ciitatm1.1Dim/Ciitatm1.1Dim
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0001299 abnormal eye distance/ position "abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ciitatm1.1Dim/Ciitatm1.1Dim
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 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]
Show

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ciitatm1.1Dim/Ciitatm1.1Dim
Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0002746 abnormal semilunar valve morphology "malformation of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82728]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0002748 abnormal pulmonary valve morphology "malformation of the valve between the right ventricle and the pulmonary trunk" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0004383 absent interparietal bone "absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0004838 abnormal neural fold elevation formation "any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0006301 abnormal mesenchyme morphology "abnormality in the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems." [J:120305, mnk:Michelle Knowlton_MGI Curator]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0010469 ascending aorta hypoplasia "underdevelopment or reduced size of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise, usually due to reduced cell number" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0010476 coronary fistula "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula)" [http://emedicine.medscape.com]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0010541 aorta hypoplasia "underdevelopment or reduced size of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries, usually due to reduced cell number" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Ift172wim/Ift172wim
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Golga3tm1b(EUCOMM)Hmgu/Golga3tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Golga3tm1b(EUCOMM)Hmgu/H

 MP:0011260 abnormal head mesenchyme morphology "any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells" [ISBN:0-683-40008-8]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

 MP:0030028 absent exoccipital bone "absence of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young" [MGI:anna]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0030329 absent temporal bone petrous part "absence of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium" [MGI:anna]
Show

Allelic Composition: Hectd1opm/Hectd1opm
Genetic Background: C3.B6-Hectd1opm

Allelic Composition: Hectd1Gt(XC266)Byg/Hectd1Gt(XC266)Byg
Genetic Background: involves: 129P2/OlaHsd

  


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






 

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