LOCUS       NP_766061                909 aa            linear   ROD 06-DEC-2024
DEFINITION  E3 ubiquitin-protein ligase HACE1 [Mus musculus].
ACCESSION   NP_766061
VERSION     NP_766061.2
DBSOURCE    REFSEQ: accession NM_172473.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 909)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (residues 1 to 909)
  AUTHORS   Turgu,B., El-Naggar,A., Kogler,M., Tortola,L., Zhang,H.F.,
            Hassan,M., Lizardo,M.M., Kung,S.H., Lam,W., Penninger,J.M. and
            Sorensen,P.H.
  TITLE     The HACE1 E3 ligase mediates RAC1-dependent control of mTOR
            signaling complexes
  JOURNAL   EMBO Rep 24 (12), e56815 (2023)
   PUBMED   37846480
  REMARK    GeneRIF: The HACE1 E3 ligase mediates RAC1-dependent control of
            mTOR signaling complexes.
REFERENCE   3  (residues 1 to 909)
  AUTHORS   Turgu,B., Zhang,F., El-Naggar,A., Negri,G.L., Kogler,M.,
            Tortola,L., Johnson,F., Ng,T., Li,A., Yapp,D., Lockwood,W.,
            Martinez,D., Maris,J.M., Daugaard,M., Penninger,J.M., Hughes,C.S.
            and Sorensen,P.H.
  TITLE     HACE1 blocks HIF1alpha accumulation under hypoxia in a RAC1
            dependent manner
  JOURNAL   Oncogene 40 (11), 1988-2001 (2021)
   PUBMED   33603169
  REMARK    GeneRIF: HACE1 blocks HIF1alpha accumulation under hypoxia in a
            RAC1 dependent manner.
REFERENCE   4  (residues 1 to 909)
  AUTHORS   Kogler,M., Tortola,L., Negri,G.L., Leopoldi,A., El-Naggar,A.M.,
            Mereiter,S., Gomez-Diaz,C., Nitsch,R., Tortora,D., Kavirayani,A.M.,
            Gapp,B.V., Rao,S., Uribesalgo,I., Hoffmann,D., Cikes,D.,
            Novatchkova,M., Williams,D.A., Trent,J.M., Ikeda,F., Daugaard,M.,
            Hagelkruys,A., Sorensen,P.H. and Penninger,J.M.
  TITLE     HACE1 Prevents Lung Carcinogenesis via Inhibition of RAC-Family
            GTPases
  JOURNAL   Cancer Res 80 (14), 3009-3022 (2020)
   PUBMED   32366477
  REMARK    GeneRIF: HACE1 Prevents Lung Carcinogenesis via Inhibition of
            RAC-Family GTPases.
REFERENCE   5  (residues 1 to 909)
  AUTHORS   Ehrnhoefer,D.E., Southwell,A.L., Sivasubramanian,M., Qiu,X.,
            Villanueva,E.B., Xie,Y., Waltl,S., Anderson,L., Fazeli,A.,
            Casal,L., Felczak,B., Tsang,M. and Hayden,M.R.
  TITLE     HACE1 is essential for astrocyte mitochondrial function and
            influences Huntington disease phenotypes in vivo
  JOURNAL   Hum Mol Genet 27 (2), 239-253 (2018)
   PUBMED   29121340
  REMARK    GeneRIF: Authors show that the genetic ablation of hace1 in the
            YAC128 mouse model of HD accelerates motor deficits and exacerbates
            cognitive and psychiatric phenotypes in vivo.
REFERENCE   6  (residues 1 to 909)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   7  (residues 1 to 909)
  AUTHORS   Daugaard,M., Nitsch,R., Razaghi,B., McDonald,L., Jarrar,A.,
            Torrino,S., Castillo-Lluva,S., Rotblat,B., Li,L., Malliri,A.,
            Lemichez,E., Mettouchi,A., Berman,J.N., Penninger,J.M. and
            Sorensen,P.H.
  TITLE     Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH
            oxidase complexes
  JOURNAL   Nat Commun 4, 2180 (2013)
   PUBMED   23864022
  REMARK    GeneRIF: Hace1 controls ROS generation of vertebrate Rac1-dependent
            NADPH oxidase complexes.
REFERENCE   8  (residues 1 to 909)
  AUTHORS   Matsubara,S., Takahashi,T. and Kimura,A.P.
  TITLE     Epigenetic patterns at the mouse prolyl oligopeptidase gene locus
            suggest the CpG island in the gene body to be a novel regulator for
            gene expression
  JOURNAL   Gene 465 (1-2), 17-29 (2010)
   PUBMED   20600704
REFERENCE   9  (residues 1 to 909)
  AUTHORS   Zhao,J., Zhang,Z., Vucetic,Z., Soprano,K.J. and Soprano,D.R.
  TITLE     HACE1: A novel repressor of RAR transcriptional activity
  JOURNAL   J Cell Biochem 107 (3), 482-493 (2009)
   PUBMED   19350571
REFERENCE   10 (residues 1 to 909)
  AUTHORS   Zhang,L., Anglesio,M.S., O'Sullivan,M., Zhang,F., Yang,G.,
            Sarao,R., Mai,P.N., Cronin,S., Hara,H., Melnyk,N., Li,L., Wada,T.,
            Liu,P.P., Farrar,J., Arceci,R.J., Sorensen,P.H. and Penninger,J.M.
  TITLE     The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor
            involved in multiple cancers
  JOURNAL   Nat Med 13 (9), 1060-1069 (2007)
   PUBMED   17694067
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC153847.7, AK042879.1 and AC135669.5.
            
            On Jan 7, 2010 this sequence version replaced NP_766061.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK042879.1, AK156958.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..909
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 23.65 cM"
     Protein         1..909
                     /product="E3 ubiquitin-protein ligase HACE1"
                     /EC_number="2.3.2.26"
                     /note="HECT-type E3 ubiquitin transferase HACE1"
                     /calculated_mol_wt=101983
     Region          1..21
                     /region_name="N-terminal helix important for
                     homodimerization. /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          23..55
                     /region_name="ANK 1.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          26..249
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:440430"
     Region          64..93
                     /region_name="ANK 2.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          66..95
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(97,99,103..104,107..109,111..112,116,119,128,130,
                     132,136..137,140..142,144..145,149,152,161,163,165,
                     169..170,173..175,177..178,182,185,194)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          97..128
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          97..126
                     /region_name="ANK 3.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          130..161
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          130..159
                     /region_name="ANK 4.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          163..194
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          163..192
                     /region_name="ANK 5.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          196..226
                     /region_name="ANK 6.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          196..221
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          228..253
                     /region_name="ANK 7.
                     /evidence=ECO:0000250|UniProtKB:Q8IYU2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          398..433
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3U0D9.1)"
     Region          554..903
                     /region_name="HECTc"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; cd00078"
                     /db_xref="CDD:238033"
     Site            order(559,589,599,659,834,870..871,874..878,898)
                     /site_type="active"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:238033"
     Site            order(687,690..691,693..694,697,704,706,710..711,713,718,
                     723,740,744)
                     /site_type="active"
                     /note="E2 interaction site [active]"
                     /db_xref="CDD:238033"
     CDS             1..909
                     /gene="Hace1"
                     /gene_synonym="1700042J16Rik; A730034A22Rik"
                     /coded_by="NM_172473.3:247..2976"
                     /db_xref="CCDS:CCDS23829.1"
                     /db_xref="GeneID:209462"
                     /db_xref="MGI:MGI:2446110"
ORIGIN      
        1 merameqlnr ltrslrrart velpedneta vytlmpmvma dqhrsvsell snskfdvnya
       61 fgrvkrsllh iaancgsvec lvlllkkgan pnyqdisgct plhlaarngq kkcmsklley
      121 sadvnicnne gltaihwlav ngrtellhdl vqhvtdvdve damgqtalhv acqnghkttv
      181 qclldsgadi nrpnvsgatp lyfacshgqr dtaqilllrg akylpdkngv tpldlcvqgg
      241 ygqtcevliq yhprlfqtiv qmtqnedlre nmlrqvlqhl sqqsesqylk iltglaevat
      301 tnghkllsls snydaqmksl lrivrifchv frigpsspsn gidmgyngnk tprsqvfkpl
      361 ellwhsldew lvliatelmk nkedstdits illkqkgqdq eapslsafep pgpgsyeslp
      421 pgpgdskpev lageqeasad cqdvisvtan rlsaviqafy mccscqmppg mtsprfiefv
      481 ckhdevlkcf vnrnpkiifd hfhfllecpe lmsrfmhiik aqpfkdrcew fyehlhsgqp
      541 dsdmvhrpvs endillvhrd sifrssceiv skancaklkq giavrfhgee gmgqgvvrew
      601 fdilsneivn pdyalftqsa dgttfqpnsn syvnpdhlny frfagqilgl alnhrqlvni
      661 yftrsfykhi lgipvnyqdv asidpeyakn lqwildndis dlgleltfsv etdvfgamee
      721 vplkpgggsi lvtqnnkaey vqlvtelrmt raiqpqinaf lqgfhmfipp sliqlfdeye
      781 lelllsgmpe idvndwiknt eytsgyered pviqwfwevv editqeervl llqfvtgssr
      841 vphggfanim ggsglqnfti aavpytpnll ptsstcinml klpeypskei lkdrllvalh
      901 cgsygytma
//
