{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8IYU2","secondaryAccessions":["A8K6U5","B3KY89","B4DFM6","B4DTQ4","B7Z9X6","E9PGP0","Q5VU99","Q5VUA0","Q8ND12","Q9P2M6"],"uniProtkbId":"HACE1_HUMAN","entryAudit":{"firstPublicDate":"2007-03-20","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2007-03-20","entryVersion":184,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"E3 ubiquitin-protein ligase HACE1"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38332367"}],"value":"2.3.2.26"}]},"alternativeNames":[{"fullName":{"value":"HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"38332367"}],"value":"HECT-type E3 ubiquitin transferase HACE1"}}]},"genes":[{"geneName":{"value":"HACE1"},"synonyms":[{"value":"KIAA1320"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3U0D9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15254018"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21988917"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22036506"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38332367"}],"value":"E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases (PubMed:15254018, PubMed:21988917, PubMed:22036506, PubMed:37537642, PubMed:38332367). Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion (PubMed:21988917). Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division (PubMed:21988917). Specifically binds GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens (PubMed:22036506, PubMed:37537642, PubMed:38332367). May also act as a transcription regulator via its interaction with RARB (By similarity)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.","ecNumber":"2.3.2.26","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38332367"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38332367"}],"value":"Sterically autoinhibited in its dimeric state"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38332367"}],"value":"Protein modification; protein ubiquitination"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3U0D9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15254018"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21988917"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37537642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38332367"}],"value":"Homodimer (PubMed:37537642, PubMed:38332367). The homodimer is autoinhibited and stabilized by its N-terminal helix (PubMed:37537642, PubMed:38332367). Interacts with RAB1 (RAB1A, RAB1B or RAB1C), RAB4 (RAB4A or RAB4B) and RAB11 (RAB11A or RAB11B); in a GTP-dependent manner (PubMed:21988917). Interacts with the 26S proteasomal complex through the 20S core proteasomal subunit (PubMed:15254018). Interacts with RARB (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8IYU2","intActId":"EBI-308277"},"interactantTwo":{"uniProtKBAccession":"Q96CV9","geneName":"OPTN","intActId":"EBI-748974"},"numberOfExperiments":15,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IYU2","intActId":"EBI-308277"},"interactantTwo":{"uniProtKBAccession":"P20338","geneName":"RAB4A","intActId":"EBI-722284"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IYU2","intActId":"EBI-308277"},"interactantTwo":{"uniProtKBAccession":"P63000","geneName":"RAC1","intActId":"EBI-413628"},"numberOfExperiments":5,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21988917"}],"value":"A significant portion localizes to the endoplasmic reticulum. 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WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor (PubMed:19948536)"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Spastic paraplegia and psychomotor retardation with or without seizures","diseaseAccession":"DI-04637","acronym":"SPPRS","description":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures.","diseaseCrossReference":{"database":"MIM","id":"616756"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26424145"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26437029"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAA92558.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAG57487.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAG62066.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAH14462.1","note":"Truncated 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