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HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 [ Homo sapiens (human) ]

Gene ID: 8925, updated on 9-Feb-2020

Summary

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Official Symbol
HERC1provided by HGNC
Official Full Name
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1provided by HGNC
Primary source
HGNC:HGNC:4867
See related
Ensembl:ENSG00000103657 MIM:605109
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p532; p619; MDFPMR
Summary
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in brain (RPKM 7.7), ovary (RPKM 7.5) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See HERC1 in Genome Data Viewer
Location:
15q22.31
Exon count:
80
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (63608618..63833948, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63900817..64126148, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 3 Neighboring gene USP3 antisense RNA 1 Neighboring gene F-box and leucine rich repeat protein 22 Neighboring gene microRNA 422a Neighboring gene uncharacterized LOC101928988 Neighboring gene death associated protein kinase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. Aggarwal S, et al. Am J Med Genet A, 2016 Jul. PMID 27108999
  2. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Ortega-Recalde O, et al. Clin Genet, 2015 Oct. PMID 26138117
  3. HERC1 polymorphisms: population-specific variations in haplotype composition. Yuasa I, et al. Cell Biochem Funct, 2009 Aug. PMID 19618402
  4. Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1-mediated guanine nucleotide release from ARF proteins. Garcia-Gonzalo FR, et al. FEBS Lett, 2005 Jan 17. PMID 15642342
  5. The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells. Garcia-Gonzalo FR, et al. FEBS Lett, 2004 Feb 13. PMID 14960311

See all (42) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In the light of recent reports of HERC1 mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of HERC1 disruption.
    Title: A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
  2. Biallelic sequence variants in a novel gene (HERC1) are linked to a syndromic form of overgrowth and intellectual disability.
    Title: Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.
  3. Data show that E3 ubiquitin-protein ligase HERC1 interacts with bcl-2 homologous antagonist-killer protein BAK in HPV5 E6-expressing cells that have been damaged by UV.
    Title: Resistance to UV-induced apoptosis by β-HPV5 E6 involves targeting of activated BAK for proteolysis by recruitment of the HERC1 ubiquitin ligase.
  4. global frequency distributions of 4 single nucleotide polymorphisms in the HERC1 gene; 12 population groups included
    Title: HERC1 polymorphisms: population-specific variations in haplotype composition.
  5. Observational study of genotype prevalence. (HuGE Navigator)
    Title: HERC1 polymorphisms: population-specific variations in haplotype composition.
  6. physical interaction between the HECT domain of HERC1, a giant protein involved in intracellular membrane traffic, and the M2 isoform of glycolytic enzyme pyruvate kinase (M2-PK)
    Title: Interaction between HERC1 and M2-type pyruvate kinase.
  7. HERC1 overexpression does not stimulate protrusion formation in the absence of AlF(4)(-), in conditions where ARNO does, indicating that HERC1 is not acting as an ARF6-GEF, but instead its recruitment takes place downstream of ARF6 activation
    Title: The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells.
  8. HERC1, through its RLD1 (RCC1-like domain), stimulates GDP release from ARF6 but it inhibits GDP/GTP exchange on ARF6 under conditions where ARNO stimulates it.
    Title: Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1-mediated guanine nucleotide release from ARF proteins.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Macrocephaly, dysmorphic facies, and psychomotor retardation
MedGen: C4310766 OMIM: 617011 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 PubMed 
ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
  
negative regulation of autophagy IEA
Inferred from Electronic Annotation
more info
  
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
  
neuron projection development IEA
Inferred from Electronic Annotation
more info
  
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
  
membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
probable E3 ubiquitin-protein ligase HERC1
Names
HECT domain and RCC1-like domain-containing protein 1
HECT-type E3 ubiquitin transferase HERC1
guanine nucleotide exchange factor p532
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
NP_003913.3
XP_016878188.1
XP_016878189.1
XP_016878190.1
XP_016878191.1
XP_016878192.1
XP_016878193.1
XP_016878194.1
XP_016878195.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046958.1 RefSeqGene

    Range
    5002..230332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003922.4 → NP_003913.3  probable E3 ubiquitin-protein ligase HERC1

    See identical proteins and their annotated locations for NP_003913.3

    Status: REVIEWED

    Source sequence(s)
    AK226162, BQ216911, DB117652, U50078
    Consensus CDS
    CCDS45277.1
    UniProtKB/Swiss-Prot
    Q15751
    UniProtKB/TrEMBL
    A0A024R5W0
    Related
    ENSP00000390158.2, ENST00000443617.7
    Conserved Domains (9) summary
    smart00119
    Location:4504 → 4837
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    COG2319
    Location:3394 → 3778
    WD40; WD40 repeat [General function prediction only]
    cd00078
    Location:4473 → 4841
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    cd14401
    Location:2753 → 2796
    UBA_HERC1; UBA domain found in probable E3 ubiquitin-protein ligase HERC1 and similar proteins
    pfam00415
    Location:4309 → 4358
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:667 → 696
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    sd00039
    Location:3432 → 3475
    7WD40; WD40 repeat [structural motif]
    cd12881
    Location:2032 → 2189
    SPRY_HERC1; SPRY domain in HERC1
    cl02567
    Location:3424 → 3775
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    63608618..63833948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022705.2 → XP_016878194.1  probable E3 ubiquitin-protein ligase HERC1 isoform X7

  2. XM_017022702.2 → XP_016878191.1  probable E3 ubiquitin-protein ligase HERC1 isoform X4

  3. XM_017022704.2 → XP_016878193.1  probable E3 ubiquitin-protein ligase HERC1 isoform X6

  4. XM_017022703.2 → XP_016878192.1  probable E3 ubiquitin-protein ligase HERC1 isoform X5

  5. XM_017022701.2 → XP_016878190.1  probable E3 ubiquitin-protein ligase HERC1 isoform X3

  6. XM_017022699.2 → XP_016878188.1  probable E3 ubiquitin-protein ligase HERC1 isoform X1

  7. XM_017022700.2 → XP_016878189.1  probable E3 ubiquitin-protein ligase HERC1 isoform X2

  8. XM_017022706.2 → XP_016878195.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15751.2 GenPept UniProtKB/Swiss-Prot:Q15751

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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