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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 22-May-2022

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; AllianceGenome:HGNC:4867
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
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Genomic context

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See HERC1 in Genome Data Viewer
Location:
15q22.31
Exon count:
81
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63608618..63833948, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61415858..61641126, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63900817..64126147, 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. The ubiquitin ligase HERC1 regulates cell migration via RAF-dependent regulation of MKK3/p38 signaling. Pedrazza L, et al. Sci Rep, 2020 Jan 21. PMID 31965002, Free PMC Article
  2. 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
  3. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Ortega-Recalde O, et al. Clin Genet, 2015 Oct. PMID 26138117
  4. HERC1 polymorphisms: population-specific variations in haplotype composition. Yuasa I, et al. Cell Biochem Funct, 2009 Aug. PMID 19618402
  5. 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

See all (58) 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. The Herc1 gene in neurobiology.
    Title: The Herc1 gene in neurobiology.
  2. Identification of a quality-control factor that monitors failures during proteasome assembly.
    Title: Identification of a quality-control factor that monitors failures during proteasome assembly.
  3. A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.
    Title: A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.
  4. The ubiquitin ligase HERC1 regulates cell migration via RAF-dependent regulation of MKK3/p38 signaling.
    Title: The ubiquitin ligase HERC1 regulates cell migration via RAF-dependent regulation of MKK3/p38 signaling.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Observational study of genotype prevalence. (HuGE Navigator)
    Title: HERC1 polymorphisms: population-specific variations in haplotype composition.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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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EBI GWAS Catalog

Description
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
EBI GWAS 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
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in 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_016878191.1
XP_016878194.1
XP_047289166.1
XP_047289167.1
XP_047289169.1
XP_047289170.1
XP_047289171.1
XP_047289172.1
XP_047289173.1
XP_047289174.1
XP_047289175.1
XP_047289176.1
XP_047289177.1
XP_047289178.1
XP_047289179.1
XP_047289180.1
XP_047289181.1
XP_047289182.1
XP_047289183.1
XP_047289184.1
XP_047289185.1
XP_047289186.1
XP_047289188.1
XP_047289189.1
XP_047289190.1
XP_047289191.1
XP_047289192.1
XP_047289193.1
XP_047289194.1
XP_047289195.1
XP_047289196.1
XP_047289197.1
XP_047289199.1
XP_047289200.1
XP_047289201.1
XP_047289202.1
XP_047289203.1
XP_047289204.1
XP_047289205.1
XP_047289206.1
XP_047289207.1
XP_047289208.1
XP_047289210.1
XP_047289211.1
XP_047289212.1
XP_047289213.1
XP_047289214.1
XP_047289215.1
XP_047289216.1

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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047433260.1 → XP_047289216.1  probable E3 ubiquitin-protein ligase HERC1 isoform X34

  2. XM_047433247.1 → XP_047289203.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  3. XM_047433234.1 → XP_047289190.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  4. XM_047433252.1 → XP_047289208.1  probable E3 ubiquitin-protein ligase HERC1 isoform X27

  5. XM_047433258.1 → XP_047289214.1  probable E3 ubiquitin-protein ligase HERC1 isoform X32

  6. XM_047433257.1 → XP_047289213.1  probable E3 ubiquitin-protein ligase HERC1 isoform X31

  7. XM_047433241.1 → XP_047289197.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  8. XM_047433255.1 → XP_047289211.1  probable E3 ubiquitin-protein ligase HERC1 isoform X29

  9. XM_047433238.1 → XP_047289194.1  probable E3 ubiquitin-protein ligase HERC1 isoform X20

  10. XM_017022705.2 → XP_016878194.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  11. XM_047433233.1 → XP_047289189.1  probable E3 ubiquitin-protein ligase HERC1 isoform X18

  12. XM_047433227.1 → XP_047289183.1  probable E3 ubiquitin-protein ligase HERC1 isoform X15

  13. XM_047433251.1 → XP_047289207.1  probable E3 ubiquitin-protein ligase HERC1 isoform X26

  14. XM_017022702.2 → XP_016878191.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  15. XM_047433250.1 → XP_047289206.1  probable E3 ubiquitin-protein ligase HERC1 isoform X25

  16. XM_047433246.1 → XP_047289202.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  17. XM_047433256.1 → XP_047289212.1  probable E3 ubiquitin-protein ligase HERC1 isoform X30

  18. XM_047433235.1 → XP_047289191.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  19. XM_047433259.1 → XP_047289215.1  probable E3 ubiquitin-protein ligase HERC1 isoform X33

  20. XM_047433243.1 → XP_047289199.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  21. XM_047433229.1 → XP_047289185.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  22. XM_047433222.1 → XP_047289178.1  probable E3 ubiquitin-protein ligase HERC1 isoform X11

  23. XM_047433254.1 → XP_047289210.1  probable E3 ubiquitin-protein ligase HERC1 isoform X28

  24. XM_047433226.1 → XP_047289182.1  probable E3 ubiquitin-protein ligase HERC1 isoform X15

  25. XM_047433218.1 → XP_047289174.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  26. XM_047433240.1 → XP_047289196.1  probable E3 ubiquitin-protein ligase HERC1 isoform X22

  27. XM_047433220.1 → XP_047289176.1  probable E3 ubiquitin-protein ligase HERC1 isoform X9

  28. XM_047433239.1 → XP_047289195.1  probable E3 ubiquitin-protein ligase HERC1 isoform X21

  29. XM_047433216.1 → XP_047289172.1  probable E3 ubiquitin-protein ligase HERC1 isoform X6

  30. XM_047433228.1 → XP_047289184.1  probable E3 ubiquitin-protein ligase HERC1 isoform X16

  31. XM_047433224.1 → XP_047289180.1  probable E3 ubiquitin-protein ligase HERC1 isoform X13

  32. XM_047433214.1 → XP_047289170.1  probable E3 ubiquitin-protein ligase HERC1 isoform X4

  33. XM_047433225.1 → XP_047289181.1  probable E3 ubiquitin-protein ligase HERC1 isoform X14

  34. XM_047433215.1 → XP_047289171.1  probable E3 ubiquitin-protein ligase HERC1 isoform X5

  35. XM_047433223.1 → XP_047289179.1  probable E3 ubiquitin-protein ligase HERC1 isoform X12

  36. XM_047433213.1 → XP_047289169.1  probable E3 ubiquitin-protein ligase HERC1 isoform X3

  37. XM_047433221.1 → XP_047289177.1  probable E3 ubiquitin-protein ligase HERC1 isoform X10

  38. XM_047433211.1 → XP_047289167.1  probable E3 ubiquitin-protein ligase HERC1 isoform X2

  39. XM_047433217.1 → XP_047289173.1  probable E3 ubiquitin-protein ligase HERC1 isoform X7

  40. XM_047433210.1 → XP_047289166.1  probable E3 ubiquitin-protein ligase HERC1 isoform X1

  41. XM_047433248.1 → XP_047289204.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  42. XM_047433236.1 → XP_047289192.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  43. XM_047433244.1 → XP_047289200.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  44. XM_047433230.1 → XP_047289186.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  45. XM_047433219.1 → XP_047289175.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  46. XM_047433237.1 → XP_047289193.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  47. XM_047433249.1 → XP_047289205.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  48. XM_047433245.1 → XP_047289201.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  49. XM_047433232.1 → XP_047289188.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    61415858..61641126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15751.2 GenPept UniProtKB/Swiss-Prot:Q15751

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