herc1 Summary

Summary

ECB-GENEPAGE-23191069

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herc1

Symbol Status

: Curated

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HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

Name Status

: Curated

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domain and RCC1 (CHC1)-like domain (RLD) 1-1 , domain and RCC1-like domain (RLD)-containing protein 1-like-2 , guanine nucleotide exchange factor p532 , Hect , HECT (homologous to the E6-AP (UBE3A) carboxy terminus) domain and RCC1-like domain (RLD)-containing protein 1-like , HECT (homologous to the E6-AP (UBE3A) carboxy terminus) domain and RCC1-like domain-containing protein 1 [+] , HECT (homologous to the E6-AP (UBE3A) carboxy terminus) domain and RCC1-like domain-containing protein 1-2 , HECT (homologous to the E6-AP (UBE3A) carboxy terminus) domain and RCC1-like domain-containing protein 1-3 , homologous to the E6-AP (UBE3A) carboxy terminus , homologous to the E6-AP (UBE3A) carboxyl terminus , hypothetical protein-1341 , LOC592238 , probable E3 ubiquitin-protein ligase HERC1 , Sp-Herc1 , Sp-Herc1-2 , Sp-Herc1-3 , Sp-Herc1_1 , Sp-Herc1L_2 , Sp-Hypp_1341 , SPU_000711 , SPU_001654 , SPU_003582 , SPU_011112 , SPU_013271 , SPU_016165 , SPU_018843 , SPU_024358 , SPU_024359 , SPU_028028 [-] ( Nomenclature history )

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Protein Function

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Diseases:

MIM:

MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

External Links:

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD

Symbol legend:

Blast sequence

View sequence

Literature or expression images

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