Human Gene HERC4 (uc001jng.4)
  Description: Homo sapiens HECT and RLD domain containing E3 ubiquitin protein ligase 4 (HERC4), transcript variant 1, mRNA.
RefSeq Summary (NM_022079): HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr10:69,681,656-69,835,103 Size: 153,448 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr10:69,682,688-69,832,865 Size: 150,178 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:69,681,656-69,835,103)mRNA (may differ from genome)Protein (1057 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HERC4_HUMAN
DESCRIPTION: RecName: Full=Probable E3 ubiquitin-protein ligase HERC4; EC=6.3.2.-; AltName: Full=HECT domain and RCC1-like domain-containing protein 4;
FUNCTION: Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Note=shows a punctate cytoplasmic distribution.
TISSUE SPECIFICITY: Expressed in brain and testis and detected in heart and placenta.
DEVELOPMENTAL STAGE: Expressed in fetal brain.
SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
SIMILARITY: Contains 7 RCC1 repeats.
SEQUENCE CAUTION: Sequence=BAB13419.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HERC4
CDC HuGE Published Literature: HERC4

-  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: 7.22 RPKM in Cells - Cultured fibroblasts
Total median expression: 192.53 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.24311-0.245 Picture PostScript Text
3' UTR -235.711032-0.228 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
IPR000569 - HECT
IPR000408 - Reg_chr_condens
IPR009091 - Reg_csome_cond/b-lactamase_inh

Pfam Domains:
PF00415 - Regulator of chromosome condensation (RCC1) repeat
PF00632 - HECT-domain (ubiquitin-transferase)
PF13540 - Regulator of chromosome condensation (RCC1) repeat

SCOP Domains:
50985 - RCC1/BLIP-II
56204 - Hect, E3 ligase catalytic domain

ModBase Predicted Comparative 3D Structure on Q5GLZ8
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0016740 transferase activity
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0007283 spermatogenesis
GO:0016567 protein ubiquitination
GO:0030154 cell differentiation

Cellular Component:
GO:0001650 fibrillar center
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  JF432426 - Synthetic construct Homo sapiens clone IMAGE:100073633 hect domain and RLD 4 (HERC4) gene, encodes complete protein.
KJ893519 - Synthetic construct Homo sapiens clone ccsbBroadEn_02913 HERC4 gene, encodes complete protein.
BC018114 - Homo sapiens hect domain and RLD 4, mRNA (cDNA clone IMAGE:3887546), containing frame-shift errors.
LF384643 - JP 2014500723-A/192146: Polycomb-Associated Non-Coding RNAs.
AB046813 - Homo sapiens mRNA for KIAA1593 protein, partial cds.
AY221963 - Homo sapiens HECT and RCC1 containing protein 4 isoform 1 (HERC4) mRNA, complete cds, alternatively spliced.
AY650033 - Homo sapiens HECT and RCC1 containing protein 4 isoform 3 (HERC4) mRNA, complete cds, alternatively spliced.
BX537563 - Homo sapiens mRNA; cDNA DKFZp686D016 (from clone DKFZp686D016).
BC015043 - Homo sapiens cDNA clone IMAGE:3921783.
AY650032 - Homo sapiens HECT and RCC1 containing protein 4 isoform 2 (HERC4) mRNA, complete cds, alternatively spliced.
AK027835 - Homo sapiens cDNA FLJ14929 fis, clone PLACE1009130, weakly similar to UBIQUITIN-PROTEIN LIGASE E3A (EC 6.3.2.-).
BC039600 - Homo sapiens hect domain and RLD 4, mRNA (cDNA clone MGC:48902 IMAGE:5212048), complete cds.
AK292809 - Homo sapiens cDNA FLJ77205 partial cds, highly similar to Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 2, mRNA.
AK021844 - Homo sapiens cDNA FLJ11782 fis, clone HEMBA1005991.
MA620220 - JP 2018138019-A/192146: Polycomb-Associated Non-Coding RNAs.
BC039465 - Homo sapiens hect domain and RLD 4, mRNA (cDNA clone IMAGE:4413889), partial cds.
LF322732 - JP 2014500723-A/130235: Polycomb-Associated Non-Coding RNAs.
LF322731 - JP 2014500723-A/130234: Polycomb-Associated Non-Coding RNAs.
LF322730 - JP 2014500723-A/130233: Polycomb-Associated Non-Coding RNAs.
LF322729 - JP 2014500723-A/130232: Polycomb-Associated Non-Coding RNAs.
LF322727 - JP 2014500723-A/130230: Polycomb-Associated Non-Coding RNAs.
AL096715 - Homo sapiens mRNA; cDNA DKFZp564G092 (from clone DKFZp564G092).
LF322725 - JP 2014500723-A/130228: Polycomb-Associated Non-Coding RNAs.
LF322720 - JP 2014500723-A/130223: Polycomb-Associated Non-Coding RNAs.
LF322719 - JP 2014500723-A/130222: Polycomb-Associated Non-Coding RNAs.
MA558309 - JP 2018138019-A/130235: Polycomb-Associated Non-Coding RNAs.
MA558308 - JP 2018138019-A/130234: Polycomb-Associated Non-Coding RNAs.
MA558307 - JP 2018138019-A/130233: Polycomb-Associated Non-Coding RNAs.
MA558306 - JP 2018138019-A/130232: Polycomb-Associated Non-Coding RNAs.
MA558304 - JP 2018138019-A/130230: Polycomb-Associated Non-Coding RNAs.
MA558302 - JP 2018138019-A/130228: Polycomb-Associated Non-Coding RNAs.
MA558297 - JP 2018138019-A/130223: Polycomb-Associated Non-Coding RNAs.
MA558296 - JP 2018138019-A/130222: Polycomb-Associated Non-Coding RNAs.
LF322713 - JP 2014500723-A/130216: Polycomb-Associated Non-Coding RNAs.
LF322710 - JP 2014500723-A/130213: Polycomb-Associated Non-Coding RNAs.
LF322708 - JP 2014500723-A/130211: Polycomb-Associated Non-Coding RNAs.
LF322707 - JP 2014500723-A/130210: Polycomb-Associated Non-Coding RNAs.
LF322706 - JP 2014500723-A/130209: Polycomb-Associated Non-Coding RNAs.
CU691738 - Synthetic construct Homo sapiens gateway clone IMAGE:100021016 5' read HERC4 mRNA.
LF322705 - JP 2014500723-A/130208: Polycomb-Associated Non-Coding RNAs.
LF322702 - JP 2014500723-A/130205: Polycomb-Associated Non-Coding RNAs.
LF322697 - JP 2014500723-A/130200: Polycomb-Associated Non-Coding RNAs.
AK026808 - Homo sapiens cDNA: FLJ23155 fis, clone LNG09573.
AY650034 - Homo sapiens HECT and RCC1 containing protein 4 isoform 4 (HERC4) mRNA, complete cds, alternatively spliced.
LF322673 - JP 2014500723-A/130176: Polycomb-Associated Non-Coding RNAs.
LF322672 - JP 2014500723-A/130175: Polycomb-Associated Non-Coding RNAs.
LF322671 - JP 2014500723-A/130174: Polycomb-Associated Non-Coding RNAs.
LF208775 - JP 2014500723-A/16278: Polycomb-Associated Non-Coding RNAs.
MA558290 - JP 2018138019-A/130216: Polycomb-Associated Non-Coding RNAs.
MA558287 - JP 2018138019-A/130213: Polycomb-Associated Non-Coding RNAs.
MA558285 - JP 2018138019-A/130211: Polycomb-Associated Non-Coding RNAs.
MA558284 - JP 2018138019-A/130210: Polycomb-Associated Non-Coding RNAs.
MA558283 - JP 2018138019-A/130209: Polycomb-Associated Non-Coding RNAs.
MA558282 - JP 2018138019-A/130208: Polycomb-Associated Non-Coding RNAs.
MA558279 - JP 2018138019-A/130205: Polycomb-Associated Non-Coding RNAs.
MA558274 - JP 2018138019-A/130200: Polycomb-Associated Non-Coding RNAs.
MA558250 - JP 2018138019-A/130176: Polycomb-Associated Non-Coding RNAs.
MA558249 - JP 2018138019-A/130175: Polycomb-Associated Non-Coding RNAs.
MA558248 - JP 2018138019-A/130174: Polycomb-Associated Non-Coding RNAs.
MA444352 - JP 2018138019-A/16278: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

Reactome (by CSHL, EBI, and GO)

Protein Q5GLZ8 (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: HERC4_HUMAN, KIAA1593, NM_022079, NP_071362, Q5GC98, Q5GC99, Q5GCA0, Q5GLZ8, Q8IXP9, Q9HCH9
UCSC ID: uc001jng.4
RefSeq Accession: NM_022079
Protein: Q5GLZ8 (aka HERC4_HUMAN)
CCDS: CCDS7274.1, CCDS41533.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_022079.2
exon count: 26CDS single in 3' UTR: no RNA size: 4531
ORF size: 3174CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6509.00frame shift in genome: no % Coverage: 99.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.