Human Gene HERC1 (ENST00000443617.7_7) from GENCODE V47lift37
  Description: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 (from RefSeq NM_003922.4)
Gencode Transcript: ENST00000443617.7_7
Gencode Gene: ENSG00000103657.14_14
Transcript (Including UTRs)
   Position: hg19 chr15:63,900,817-64,126,147 Size: 225,331 Total Exon Count: 78 Strand: -
Coding Region
   Position: hg19 chr15:63,901,280-64,067,822 Size: 166,543 Coding Exon Count: 77 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:63,900,817-64,126,147)mRNA (may differ from genome)Protein (4861 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HERC1_HUMAN
DESCRIPTION: RecName: Full=Probable E3 ubiquitin-protein ligase HERC1; EC=6.3.2.-; AltName: Full=HECT domain and RCC1-like domain-containing protein 1; AltName: Full=p532; AltName: Full=p619;
FUNCTION: Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a 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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with TSC2; interaction is inhibited by TSC1. Interacts with PKM, ARF1 and ARF6. Forms a ternary complex with clathrin heavy chain (CLTC) and HSPA1A.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Golgi apparatus. Note=Recruited onto actin- rich surface protrusions.
TISSUE SPECIFICITY: Widely expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
SIMILARITY: Contains 14 RCC1 repeats.
SIMILARITY: Contains 11 WD repeats.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: HERC1
Diseases sorted by gene-association score: macrocephaly, dysmorphic facies, and psychomotor retardation* (1580), chromosome 1q41-q42 deletion syndrome (8), gestational choriocarcinoma (6), intellectual disability (2)
* = Manually curated disease association

-  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: 14.46 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 362.81 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 -55.70148-0.376 Picture PostScript Text
3' UTR -97.60463-0.211 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
IPR001870 - B30.2/SPRY
IPR008985 - ConA-like_lec_gl_sf
IPR000569 - HECT
IPR000408 - Reg_chr_condens
IPR009091 - Reg_csome_cond/b-lactamase_inh
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF00415 - Regulator of chromosome condensation (RCC1) repeat
PF00622 - SPRY domain
PF00632 - HECT-domain (ubiquitin-transferase)
PF13540 - Regulator of chromosome condensation (RCC1) repeat

SCOP Domains:
48371 - ARM repeat
46934 - UBA-like
49899 - Concanavalin A-like lectins/glucanases
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50985 - RCC1/BLIP-II
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like
56204 - Hect, E3 ligase catalytic domain

ModBase Predicted Comparative 3D Structure on Q15751
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-  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:0005085 guanyl-nucleotide exchange factor activity
GO:0005086 ARF guanyl-nucleotide exchange factor activity
GO:0016740 transferase activity

Biological Process:
GO:0010507 negative regulation of autophagy
GO:0016567 protein ubiquitination
GO:0021702 cerebellar Purkinje cell differentiation
GO:0031175 neuron projection development
GO:0050885 neuromuscular process controlling balance

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  U50078 - Human guanine nucleotide exchange factor p532 mRNA, complete cds.
AK226162 - Homo sapiens mRNA for guanine nucleotide exchange factor p532 variant, clone: ff11573.
BC172910 - Synthetic construct Homo sapiens clone IMAGE:9094486 guanine nucleotide exchange factor p532 (HERC1) gene, partial cds.
AK296690 - Homo sapiens cDNA FLJ60284 complete cds, highly similar to Homo sapiens guanine nucleotide exchange factor p532.
AK310519 - Homo sapiens cDNA, FLJ17561.
BC017384 - Homo sapiens cDNA clone IMAGE:4070780, **** WARNING: chimeric clone ****.
AF131824 - Homo sapiens clone 25038 mRNA sequence.
AK091624 - Homo sapiens cDNA FLJ34305 fis, clone FEBRA2007901, moderately similar to Human guanine nucleotide exchange factor p532 mRNA.
BC040929 - Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1, mRNA (cDNA clone IMAGE:4472317), partial cds.
JD565864 - Sequence 546888 from Patent EP1572962.
JD465167 - Sequence 446191 from Patent EP1572962.
JD231119 - Sequence 212143 from Patent EP1572962.
JD538272 - Sequence 519296 from Patent EP1572962.
JD524456 - Sequence 505480 from Patent EP1572962.
AY030081 - Homo sapiens unknown mRNA.
BC172909 - Synthetic construct Homo sapiens clone IMAGE:9094485 guanine nucleotide exchange factor p532 (HERC1) gene, partial cds.
JD405663 - Sequence 386687 from Patent EP1572962.

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

Protein Q15751 (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: ENST00000443617.1, ENST00000443617.2, ENST00000443617.3, ENST00000443617.4, ENST00000443617.5, ENST00000443617.6, HERC1_HUMAN, NM_003922, Q15751, Q8IW65, uc320lni.1, uc320lni.2
UCSC ID: ENST00000443617.7_7
RefSeq Accession: NM_003922.4
Protein: Q15751 (aka HERC1_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.