HERC1

HERC1
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	4O2W, 4QT6
Identifiers
Aliases	HERC1, p532, p619, HECT and RLD domain containing E3 ubiquitin protein ligase family member 1, MDFPMR
External IDs	OMIM: 605109; MGI: 2384589; HomoloGene: 31207; GeneCards: HERC1; OMA:HERC1 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	63,833,948 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	66,416,057 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; Brodmann area 23; ; ganglionic eminence; ; right hemisphere of cerebellum; ; primary visual cortex; ; prefrontal cortex; ; Achilles tendon; ; Skeletal muscle tissue of biceps brachii; ; muscle of thigh; ; right frontal lobe;
	Top expressed in
	perirhinal cortex; ; CA3 field; ; cingulate gyrus; ; entorhinal cortex; ; medial dorsal nucleus; ; primary motor cortex; ; cerebellar vermis; ; medullary collecting duct; ; lobe of cerebellum; ; habenula;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ubiquitin-protein transferase activity; guanyl-nucleotide exchange factor activity; transferase activity;
Cellular component	cytoplasm; cytosol; Golgi apparatus; membrane;
Biological process	cerebellar Purkinje cell differentiation; negative regulation of autophagy; neuron projection development; protein ubiquitination; neuromuscular process controlling balance;
	Sources:Amigo / QuickGO
Orthologs
	8925
	235439
	ENSG00000103657
	ENSMUSG00000038664
	Q15751
	n/a
	NM_003922
	NM_145617
	NP_003913
	n/a
	Wikidata
View/Edit Human	View/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).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000103657 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038664 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: HERC1 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1".
^ 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.
^ 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)

Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Garcia-Gonzalo FR, Bartrons R, Ventura F, Rosa JL (2005). "Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1-mediated guanine nucleotide release from ARF proteins". FEBS Lett. 579 (2): 343–8. doi:10.1016/j.febslet.2004.11.095. PMID 15642342.
Garcia-Gonzalo FR, Muñoz P, González E, et al. (2004). "The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells". FEBS Lett. 559 (1–3): 77–83. doi:10.1016/S0014-5793(04)00030-4. PMID 14960311.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Garcia-Gonzalo FR, Cruz C, Muñoz P, et al. (2003). "Interaction between HERC1 and M2-type pyruvate kinase". FEBS Lett. 539 (1–3): 78–84. doi:10.1016/S0014-5793(03)00205-9. PMID 12650930. S2CID 32809019.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Cruz C, Paladugu A, Ventura F, et al. (1999). "Assignment of the human P532 gene (HERC1) to chromosome 15q22 by fluorescence in situ hybridization". Cytogenet. Cell Genet. 86 (1): 68–9. doi:10.1159/000015414. PMID 10516438. S2CID 46241923.
Ji Y, Walkowicz MJ, Buiting K, et al. (1999). "The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities". Hum. Mol. Genet. 8 (3): 533–42. doi:10.1093/hmg/8.3.533. PMID 9949213.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000103657 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid8861955-5] 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.

[pmid9233772-6] 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.

[entrez-7] "Entrez Gene: HERC1 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1".

[pmid_3678603-8] 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.

[pmid20041218-9] 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)

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References

Further reading