Human Gene HECTD1 (ENST00000399332.6_14) from GENCODE V47lift37
  Description: HECT domain E3 ubiquitin protein ligase 1 (from RefSeq NM_015382.4)
Gencode Transcript: ENST00000399332.6_14
Gencode Gene: ENSG00000092148.14_19
Transcript (Including UTRs)
   Position: hg19 chr14:31,569,323-31,676,999 Size: 107,677 Total Exon Count: 43 Strand: -
Coding Region
   Position: hg19 chr14:31,570,136-31,675,142 Size: 105,007 Coding Exon Count: 42 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:31,569,323-31,676,999)mRNA (may differ from genome)Protein (2610 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HECD1_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase HECTD1; EC=6.3.2.-; AltName: Full=E3 ligase for inhibin receptor; AltName: Full=EULIR; AltName: Full=HECT domain-containing protein 1;
FUNCTION: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. May be required for development of the head mesenchyme and neural tube closure (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with IGSF1.
SIMILARITY: Belongs to the UPL family. K-HECT subfamily.
SIMILARITY: Contains 4 ANK repeats.
SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
SIMILARITY: Contains 1 MIB/HERC2 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.80 RPKM in Muscle - Skeletal
Total median expression: 768.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -420.60799-0.526 Picture PostScript Text
3' UTR -194.80813-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR008979 - Galactose-bd-like
IPR000569 - HECT
IPR010606 - Mib_Herc2
IPR012919 - Sad1_UNC_C

Pfam Domains:
PF00023 - Ankyrin repeat
PF00632 - HECT-domain (ubiquitin-transferase)
PF06701 - Mib_herc2
PF07738 - Sad1 / UNC-like C-terminal
PF12796 - Ankyrin repeats (3 copies)
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)
PF18410 - Basic tilted helix bundle domain

SCOP Domains:
48371 - ARM repeat
140860 - Pseudo ankyrin repeat-like
69279 - Phage tail proteins
49785 - Galactose-binding domain-like
159034 - Mib/herc2 domain-like
56204 - Hect, E3 ligase catalytic domain
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DK3 - NMR MuPIT 2LC3 - NMR MuPIT 3DKM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9ULT8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AL110222 - Homo sapiens mRNA; cDNA DKFZp434K233 (from clone DKFZp434K233); partial cds.
AK024847 - Homo sapiens cDNA: FLJ21194 fis, clone COL00179.
AK125788 - Homo sapiens cDNA FLJ43800 fis, clone TESTI4000349, highly similar to E3 ubiquitin-protein ligase HECTD1.
AY739714 - Homo sapiens HECTD1 mRNA, partial cds.
AB032957 - Homo sapiens mRNA for KIAA1131 protein, partial cds.
AY254380 - Homo sapiens E3 ligase for inhibin receptor mRNA, complete cds.
BC172391 - Synthetic construct Homo sapiens clone IMAGE:100069085, MGC:199096 HECT domain containing 1 (HECTD1) mRNA, encodes complete protein.
AK095634 - Homo sapiens cDNA FLJ38315 fis, clone FCBBF3023368.
BC006237 - Homo sapiens HECT domain containing 1, mRNA (cDNA clone IMAGE:3952406), partial cds.
BC083494 - Homo sapiens HECT domain containing 1, mRNA (cDNA clone IMAGE:4364596), partial cds.
BC063686 - Homo sapiens HECT domain containing 1, mRNA (cDNA clone IMAGE:4499318), partial cds.
BC072441 - Homo sapiens HECT domain containing 1, mRNA (cDNA clone IMAGE:6046592).
BC011658 - Homo sapiens HECT domain containing 1, mRNA (cDNA clone IMAGE:4122368), partial cds.
JD346050 - Sequence 327074 from Patent EP1572962.
JD058834 - Sequence 39858 from Patent EP1572962.
JD379430 - Sequence 360454 from Patent EP1572962.
JD320883 - Sequence 301907 from Patent EP1572962.
JD320460 - Sequence 301484 from Patent EP1572962.
JD046444 - Sequence 27468 from Patent EP1572962.
JD330659 - Sequence 311683 from Patent EP1572962.
JD081113 - Sequence 62137 from Patent EP1572962.
JD376584 - Sequence 357608 from Patent EP1572962.
JD559858 - Sequence 540882 from Patent EP1572962.
BC016947 - Homo sapiens, clone IMAGE:3846569, mRNA.
JD201077 - Sequence 182101 from Patent EP1572962.
JD537156 - Sequence 518180 from Patent EP1572962.
JD442314 - Sequence 423338 from Patent EP1572962.
JD430813 - Sequence 411837 from Patent EP1572962.
JD234261 - Sequence 215285 from Patent EP1572962.
JD554835 - Sequence 535859 from Patent EP1572962.
JD391486 - Sequence 372510 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9ULT8 (Reactome details) participates in the following event(s):

R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: D3DS86, ENST00000399332.1, ENST00000399332.2, ENST00000399332.3, ENST00000399332.4, ENST00000399332.5, HECD1_HUMAN, HECTD1 , KIAA1131, NM_015382, Q6P445, Q86VJ1, Q96F34, Q9UFZ7, Q9ULT8, uc319ags.1, uc319ags.2
UCSC ID: ENST00000399332.6_14
RefSeq Accession: NM_015382.4
Protein: Q9ULT8 (aka HECD1_HUMAN or HED1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.