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 9.8e-04
glioblastoma -1.500 4.9e-04
medulloblastoma, large-cell -1.800 1.7e-05
Breast cancer -1.100 3.8e-09
acute myeloid leukemia -1.200 4.2e-02
ovarian cancer -1.300 1.4e-03

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.
22614015 HACE1 is an antagonist of cell migration through its ability to degrade active Rac1.
22036506 The HACE1 expression increases the ubiquitylation of Rac1, when the GTPase is activated by point mutations or by the GEF-domain of Dbl.
21326284 The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbors multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility, such as mutations in gene HACE1.
20546612 Observational study of gene-disease association. (HuGE Navigator)
19965620 Deregulation of the tumor suppressor HACE1 is associated with natural killer/T-cell lymphoma, nasal type.
19528486 Aberrant methylation of the HACE1 gene is associated with gastric carcinoma.
18630515 Aberrant methylation of the HACE1 gene was detected in 9 out of the 32 (28%) primary colon carcinomas.
17694067 HACE1 is a candidate chromosome 6q21 tumor-suppressor gene involved in multiple cancers.
15254018 Hace1 as a novel ubiquitin-protein ligase with very low expression Wilms' tumors; hypermethylation of two upstream CpG islands correlates with low HACE1 expression in tumor samples.

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.
23732777 2013 Methylation of the HACE1 gene is frequently detected in hepatocellular carcinoma.
23412934 2013 A genome-wide association study of brain lesion distribution in multiple sclerosis.
23142381 2013 HACE1 is a tumor suppressor gene candidate in natural killer cell neoplasms.
22941191 2012 Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
22889921 2013 Genome-wide association study of obsessive-compulsive disorder.
22614015 2013 The tumour suppressor HACE1 controls cell migration by regulating Rac1 degradation.
22036506 2011 The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1.
21988917 2011 The ubiquitin ligase HACE1 regulates Golgi membrane dynamics during the cell cycle.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21326284 2011 Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
19965620 2010 Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type.
19948536 2010 Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.
19528486 2009 Methylation of HACE1 in gastric carcinoma.
19448622 2009 Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
18630515 Aberrant methylation of the HACE1 gene is frequently detected in advanced colorectal cancer.
18391951 2008 Many sequence variants affecting diversity of adult human height.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17903292 2007 A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
17694067 2007 The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15254018 2004 Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
10718198 2000 Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.