Property Summary

NCBI Gene PubMed Count 35
PubMed Score 4.63
PubTator Score 28.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.100 0.001
glioblastoma -1.500 0.000
medulloblastoma, large-cell -1.800 0.000
Breast cancer -1.100 0.000
acute myeloid leukemia -1.200 0.042
ovarian cancer -1.300 0.001

Gene

PANTHER Protein Class (2)

Gene RIF (19)

PMID Text
26424145 Biallelic loss-of-function mutations in HACE1 are associated with an autosomal recessive neurodevelopmental syndrome.
26343856 HACE1 as a specific E3 ligase that polyubiquitinates YB-1 through non-canonical K27 linked ubiquitin chains.
25659579 supports a critical role for HACE1 in breast cancer progression and identifies patients that may benefit from Rac-targeted therapies
25203537 contrary to previous report, overexpression of HACE1 by transduction of recombinant protein did not affect proliferation or survival of NKTCL cell lines. We therefore conclude that HACE1 is not directly involved in NKTCL pathophysiology
25026213 HACE1-OPTN axis synergistically suppresses growth and tumorigenicity of lung cancer cells.
24516159 HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response.
24190883 Ubiquitylation and activation of RAB11a is promoted by a beta2 adrenergic receptor-HACE1 complex.
23732777 All stages of HCCs presented HACE1 methylation, indicating that the HACE1 gene has been methylated from the early stages of HCCs.
23142381 HACE1 is tumor suppressor gene located within the 6q21 region, and loss of function of multiple tumor suppressor genes within 6q21 may be a critical determinant of NK cell lymphomagenesis.
22941191 common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression.
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AA Sequence

MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYAFGRVKRSLLH      1 - 70
IAANCGSVECLVLLLKKGANPNYQDISGCTPLHLAARNGQKKCMSKLLEYSADVNICNNEGLTAIHWLAV     71 - 140
NGRTELLHDLVQHVSDVDVEDAMGQTALHVACQNGHKTTVQCLLDSGADINRPNVSGATPLYFACSHGQR    141 - 210
DTAQILLLRGAKYLPDKNGVTPLDLCVQGGYGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHL    211 - 280
SQQSESQYLKILTSLAEVATTNGHKLLSLSSNYDAQMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNK    281 - 350
TPRSQVFKPLELLWHSLDEWLVLIATELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLS    351 - 420
TGTRESKPDALAGRQEASADCQDVISMTANRLSAVIQAFYMCCSCQMPPGMTSPRFIEFVCKHDEVLKCF    421 - 490
VNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFKDRCEWFYEHLHSGQPDSDMVHRPVNENDILLVHRD    491 - 560
SIFRSSCEVVSKANCAKLKQGIAVRFHGEEGMGQGVVREWFDILSNEIVNPDYALFTQSADGTTFQPNSN    561 - 630
SYVNPDHLNYFRFAGQILGLALNHRQLVNIYFTRSFYKHILGIPVNYQDVASIDPEYAKNLQWILDNDIS    631 - 700
DLGLELTFSVETDVFGAMEEVPLKPGGGSILVTQNNKAEYVQLVTELRMTRAIQPQINAFLQGFHMFIPP    701 - 770
SLIQLFDEYELELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQEERVLLLQFVTGSSR    771 - 840
VPHGGFANIMGGSGLQNFTIAAVPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALHCGSYGYTMA     841 - 909
//

Text Mined References (39)

PMID Year Title
26437029 2015 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
26424145 2015 HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
26343856 2015 HACE1 mediated K27 ubiquitin linkage leads to YB-1 protein secretion.
25794711 2015 Lack of evidence that HACE1 is not a tumor suppressor gene in NKTCL: to the editor-in-chief. Authors' reply.
25794710 2015 Lack of evidence that HACE1 is not a tumor suppressor gene in NKTCL: to the editor-in-chief.
25659579 2015 Loss of the E3 ubiquitin ligase HACE1 results in enhanced Rac1 signaling contributing to breast cancer progression.
25203537 2014 HACE1, a potential tumor suppressor gene on 6q21, is not involved in extranodal natural killer/T-cell lymphoma pathophysiology.
25026213 2014 Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression.
24516159 2014 HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response.
24190883 2014 Ubiquitylation and activation of a Rab GTPase is promoted by a ??AR-HACE1 complex.
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