HERC1: Difference between revisions

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HERC1 expression
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Knowledge of the gene is facilitated by the discovery of a mouse mutation. The tambaleante (tbl) mutation arose spontaneously on the DW/J-Pas genetic background,<ref name="pmid 3678603 ">{{cite journal |vauthors= Wassef M, Sotelo C, Cholley B, Brehier A, Thomasset M | title = Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells. | journal = Dev Biol | volume = 124 | issue = 2 | pages = 379-89 |date=Dec 1996 | pmid = 3678603 | doi = 10.1016/0012-1606(87)90490-8}}</ref> a recessive mutation of the Herc1 gene located on mouse chromosome 9 that increases Herc1 protein levels.<ref name="pmid20041218">{{cite journal |vauthors= Mashimo T, Hadjebi O, Amair-Pinedo F, Tsurumi T, Langa F, Serikawa T, Sotelo C, Guénet JL, Rosa JL | title = Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase | journal = PLoS Genet | volume = 5 | issue = 2 | pages = e1000784 |date=2009 | pmid = 20041218 | pmc = 2791161 | doi = 10.1371/journal.pgen.1000784}}</ref> This protein is largely expressed in many tissues (Sanchez-Tena et al., 2016; https://www.proteinatlas.org/ENSG00000103657-HERC1/tissue) and multiple brain regions including the cerebellum (https://www.proteinatlas.org/ENSG00000103657-HERC1/brain).
Knowledge of the gene is facilitated by the discovery of a mouse mutation. The tambaleante (tbl) mutation arose spontaneously on the DW/J-Pas genetic background,<ref name="pmid 3678603 ">{{cite journal |vauthors= Wassef M, Sotelo C, Cholley B, Brehier A, Thomasset M | title = Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells. | journal = Dev Biol | volume = 124 | issue = 2 | pages = 379-89 |date=Dec 1996 | pmid = 3678603 | doi = 10.1016/0012-1606(87)90490-8}}</ref> a recessive mutation of the Herc1 gene located on mouse chromosome 9 that increases Herc1 protein levels.<ref name="pmid20041218">{{cite journal |vauthors= Mashimo T, Hadjebi O, Amair-Pinedo F, Tsurumi T, Langa F, Serikawa T, Sotelo C, Guénet JL, Rosa JL | title = Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase | journal = PLoS Genet | volume = 5 | issue = 2 | pages = e1000784 |date=2009 | pmid = 20041218 | pmc = 2791161 | doi = 10.1371/journal.pgen.1000784}}</ref> This protein is largely expressed in many tissues (Sanchez-Tena et al., 2016; https://www.proteinatlas.org/ENSG00000103657-HERC1/tissue) and multiple brain regions including the cerebellum (https://www.proteinatlas.org/ENSG00000103657-HERC1/brain).

Herc1-tbl (tambaleante) mutant mice are characterized by Purkinje cell loss. <ref name="pmid 3678603 ">{{cite journal |vauthors= Wassef M, Sotelo C, Cholley B, Brehier A, Thomasset M | title = Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells. | journal = Dev Biol | volume = 124 | issue = 2 | pages = 379-89 |date=Dec 1996 | pmid = 3678603 | doi = 10.1016/0012-1606(87)90490-8}}</ref>. In addition to the cerebellum, Herc1tbl mutants had lower dendritic spine widths in CA1 pyramidal neurons.<ref name="pmid 33328904">{{cite journal |vauthors= Pérez-Villegas EM, Pérez-Rodríguez M, Negrete-Díaz JV, Ruiz R, Rosa JL, de Toledo GA, Rodríguez-Moreno A, Armengol JA | title = HERC1 Ubiquitin ligase is required for hippocampal learning and memory | journal = Front Neuroanat | volume = 14 | pages = 592797|date=2020 | pmid = 33328904 | pmc = 7710975 | doi = 10.3389/fnana.2020.592797}}</ref>


==References==
==References==

Revision as of 22:32, 21 November 2021

HERC1
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesHERC1, p532, p619, HECT and RLD domain containing E3 ubiquitin protein ligase family member 1, MDFPMR
External IDsOMIM: 605109; MGI: 2384589; HomoloGene: 31207; GeneCards: HERC1; OMA:HERC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

8925

235439

Ensembl

ENSG00000103657

ENSMUSG00000038664

UniProt

Q15751

n/a

RefSeq (mRNA)

NM_003922

NM_145617

RefSeq (protein)

NP_003913

n/a

Location (UCSC)Chr 15: 63.61 – 63.83 MbChr 9: 66.26 – 66.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Probable E3 ubiquitin-protein ligase HERC1 is an enzyme that in humans is encoded by the HERC1 gene.[5][6][7]

The protein encoded by this gene stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein is thought to be involved in membrane transport processes[7]

Knowledge of the gene is facilitated by the discovery of a mouse mutation. The tambaleante (tbl) mutation arose spontaneously on the DW/J-Pas genetic background,[8] a recessive mutation of the Herc1 gene located on mouse chromosome 9 that increases Herc1 protein levels.[9] This protein is largely expressed in many tissues (Sanchez-Tena et al., 2016; https://www.proteinatlas.org/ENSG00000103657-HERC1/tissue) and multiple brain regions including the cerebellum (https://www.proteinatlas.org/ENSG00000103657-HERC1/brain).

Herc1-tbl (tambaleante) mutant mice are characterized by Purkinje cell loss. [8]. In addition to the cerebellum, Herc1tbl mutants had lower dendritic spine widths in CA1 pyramidal neurons.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000103657 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038664 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Rosa JL, Casaroli-Marano RP, Buckler AJ, Vilaro S, Barbacid M (Dec 1996). "p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins". EMBO J. 15 (16): 4262–73. doi:10.1002/j.1460-2075.1996.tb00801.x. PMC 452152. PMID 8861955.
  6. ^ Rosa JL, Barbacid M (Aug 1997). "A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70". Oncogene. 15 (1): 1–6. doi:10.1038/sj.onc.1201170. PMID 9233772.
  7. ^ a b "Entrez Gene: HERC1 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1".
  8. ^ a b Wassef M, Sotelo C, Cholley B, Brehier A, Thomasset M (Dec 1996). "Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells". Dev Biol. 124 (2): 379–89. doi:10.1016/0012-1606(87)90490-8. PMID 3678603.
  9. ^ Mashimo T, Hadjebi O, Amair-Pinedo F, Tsurumi T, Langa F, Serikawa T, Sotelo C, Guénet JL, Rosa JL (2009). "Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase". PLoS Genet. 5 (2): e1000784. doi:10.1371/journal.pgen.1000784. PMC 2791161. PMID 20041218.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  10. ^ Pérez-Villegas EM, Pérez-Rodríguez M, Negrete-Díaz JV, Ruiz R, Rosa JL, de Toledo GA, Rodríguez-Moreno A, Armengol JA (2020). "HERC1 Ubiquitin ligase is required for hippocampal learning and memory". Front Neuroanat. 14: 592797. doi:10.3389/fnana.2020.592797. PMC 7710975. PMID 33328904.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Further reading


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