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 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

Alleles and phenotypes

All 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)

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 Type	Results
In situ reporter (knock in)	12
RT-PCR	2

cDNA source data(212)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(213) cDNA(212) Primer pair(1)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000035247 (Evidence)
Entrez Gene	207304 (Evidence)
UniGene	249391
DFCI	TC1615331, TC1622673, TC1628479, TC1659727, TC1708772, TC1761539
DoTS	DT.101246332, DT.485000, DT.534028, DT.87047206, DT.91369335, DT.91418106, DT.97393287
NIA Mouse Gene Index	U033932
EC	6.3.2.-
Consensus CDS Project	CCDS49064.1
International Mouse Knockout Project Status	Hectd1

Sequences

Length	Strain/Species
genomic	207304	NCBI Gene Model | MGI Sequence Detail	85815	C57BL/6J
transcript	NM_144788	RefSeq | MGI Sequence Detail	8988	Not Specified
polypeptide	Q69ZR2	UniProt | EBI | MGI Sequence Detail	2618	Not Applicable

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

Resource	ID	Description
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