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Hectd1
Gene Detail
 Symbol
Name
ID
Hectd1
HECT domain containing 1
MGI:2384768
Synonyms A630086P08Rik, b2b327Clo, MGC:12070, opm
Feature Type protein coding gene
Genetic Map
Chromosome 12
22.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr12:51743722-51829536 bp, - strand
From NCBI annotation of GRCm38

  85815 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9115  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Hectd1

Human
homologs
Human Homolog HECTD1, HECT domain containing E3 ubiquitin protein ligase 1
NCBI Gene ID 25831
neXtProt AC  NX_Q9ULT8
Human Synonyms  EULIR
Human Chr (Location)  14q12; chr14:31100117-31208060 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(47) : Chemically induced (ENU)(2) Gene trapped(42) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects.
 
Phenotype Images(12)
Interactions
Hectd1 interacts with 296 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process neural tube closure, protein ubiquitination, ...
Component cytoplasm, nucleus
Function coenzyme F420-0 gamma-glutamyl ligase activity, coenzyme F420-2 alpha-glutamyl ligase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (14)    Tissues (10)    Images (11)
Theiler Stages: 11, 13, 15, 17, 19, 20, 28
Assay TypeResults
In situ reporter (knock in) 12
RT-PCR 2
cDNA source data(212)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(213) cDNA(212) Primer pair(1)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000035247 (Evidence)
Entrez Gene207304 (Evidence)
UniGene249391
DFCITC1615331, TC1622673, TC1628479, TC1659727, TC1708772, TC1761539
DoTSDT.101246332, DT.485000, DT.534028, DT.87047206, DT.91369335, DT.91418106, DT.97393287
NIA Mouse Gene IndexU033932
EC6.3.2.-
Consensus CDS ProjectCCDS49064.1
International Mouse Knockout Project StatusHectd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 207304 NCBI Gene Model | MGI Sequence Detail 85815 C57BL/6J ±  kb
transcript NM_144788 RefSeq | MGI Sequence Detail 8988 Not Specified 
polypeptide Q69ZR2 UniProt | EBI | MGI Sequence Detail 2618 Not Applicable 

For the selected sequences
All sequences(64) RefSeq(8) UniProt(11)
Polymorphisms SNPs within 2kb(707 from dbSNP Build 137)    SNPs within 2kb including multiple locations(711)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR008979 Galactose-binding domain-like
InterPro IPR000569 HECT
InterPro IPR010606 Mib-herc2
InterPro IPR012919 Sad1/UNC-like, C-terminal
Protein Ontology PR:000008502 E3 ubiquitin-protein ligase HECTD1
Graphical View of Protein Domain Structure
References (Earliest) J:48268 Kasarskis A, et al., A phenotype-based screen for embryonic lethal mutations in the mouse. Proc Natl Acad Sci U S A. 1998 Jun 23;95(13):7485-90
(Latest) J:185047 Sarkar AA, et al., Hectd1 regulates intracellular localization and secretion of Hsp90 to control cellular behavior of the cranial mesenchyme. J Cell Biol. 2012 Mar 19;196(6):789-800
All references(45)
Other
accession IDs
MGI:1276115, MGI:2144896, MGI:2443495, MGI:5313701

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory