HAP40_RAT
ID HAP40_RAT Reviewed; 381 AA.
AC M0RDU0;
DT 16-OCT-2019, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2013, sequence version 1.
DT 03-AUG-2022, entry version 46.
DE RecName: Full=40-kDa huntingtin-associated protein {ECO:0000303|PubMed:11035034};
DE AltName: Full=Factor VIII intron 22 protein;
GN Name=F8a1; Synonyms=F8a, Hap40 {ECO:0000303|PubMed:11035034};
OS Rattus norvegicus (Rat).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Rattus.
OX NCBI_TaxID=10116;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Brown Norway;
RX PubMed=15057822; DOI=10.1038/nature02426;
RA Gibbs R.A., Weinstock G.M., Metzker M.L., Muzny D.M., Sodergren E.J.,
RA Scherer S., Scott G., Steffen D., Worley K.C., Burch P.E., Okwuonu G.,
RA Hines S., Lewis L., Deramo C., Delgado O., Dugan-Rocha S., Miner G.,
RA Morgan M., Hawes A., Gill R., Holt R.A., Adams M.D., Amanatides P.G.,
RA Baden-Tillson H., Barnstead M., Chin S., Evans C.A., Ferriera S.,
RA Fosler C., Glodek A., Gu Z., Jennings D., Kraft C.L., Nguyen T.,
RA Pfannkoch C.M., Sitter C., Sutton G.G., Venter J.C., Woodage T., Smith D.,
RA Lee H.-M., Gustafson E., Cahill P., Kana A., Doucette-Stamm L.,
RA Weinstock K., Fechtel K., Weiss R.B., Dunn D.M., Green E.D.,
RA Blakesley R.W., Bouffard G.G., De Jong P.J., Osoegawa K., Zhu B., Marra M.,
RA Schein J., Bosdet I., Fjell C., Jones S., Krzywinski M., Mathewson C.,
RA Siddiqui A., Wye N., McPherson J., Zhao S., Fraser C.M., Shetty J.,
RA Shatsman S., Geer K., Chen Y., Abramzon S., Nierman W.C., Havlak P.H.,
RA Chen R., Durbin K.J., Egan A., Ren Y., Song X.-Z., Li B., Liu Y., Qin X.,
RA Cawley S., Cooney A.J., D'Souza L.M., Martin K., Wu J.Q.,
RA Gonzalez-Garay M.L., Jackson A.R., Kalafus K.J., McLeod M.P.,
RA Milosavljevic A., Virk D., Volkov A., Wheeler D.A., Zhang Z., Bailey J.A.,
RA Eichler E.E., Tuzun E., Birney E., Mongin E., Ureta-Vidal A., Woodwark C.,
RA Zdobnov E., Bork P., Suyama M., Torrents D., Alexandersson M., Trask B.J.,
RA Young J.M., Huang H., Wang H., Xing H., Daniels S., Gietzen D., Schmidt J.,
RA Stevens K., Vitt U., Wingrove J., Camara F., Mar Alba M., Abril J.F.,
RA Guigo R., Smit A., Dubchak I., Rubin E.M., Couronne O., Poliakov A.,
RA Huebner N., Ganten D., Goesele C., Hummel O., Kreitler T., Lee Y.-A.,
RA Monti J., Schulz H., Zimdahl H., Himmelbauer H., Lehrach H., Jacob H.J.,
RA Bromberg S., Gullings-Handley J., Jensen-Seaman M.I., Kwitek A.E.,
RA Lazar J., Pasko D., Tonellato P.J., Twigger S., Ponting C.P., Duarte J.M.,
RA Rice S., Goodstadt L., Beatson S.A., Emes R.D., Winter E.E., Webber C.,
RA Brandt P., Nyakatura G., Adetobi M., Chiaromonte F., Elnitski L.,
RA Eswara P., Hardison R.C., Hou M., Kolbe D., Makova K., Miller W.,
RA Nekrutenko A., Riemer C., Schwartz S., Taylor J., Yang S., Zhang Y.,
RA Lindpaintner K., Andrews T.D., Caccamo M., Clamp M., Clarke L., Curwen V.,
RA Durbin R.M., Eyras E., Searle S.M., Cooper G.M., Batzoglou S., Brudno M.,
RA Sidow A., Stone E.A., Payseur B.A., Bourque G., Lopez-Otin C., Puente X.S.,
RA Chakrabarti K., Chatterji S., Dewey C., Pachter L., Bray N., Yap V.B.,
RA Caspi A., Tesler G., Pevzner P.A., Haussler D., Roskin K.M., Baertsch R.,
RA Clawson H., Furey T.S., Hinrichs A.S., Karolchik D., Kent W.J.,
RA Rosenbloom K.R., Trumbower H., Weirauch M., Cooper D.N., Stenson P.D.,
RA Ma B., Brent M., Arumugam M., Shteynberg D., Copley R.R., Taylor M.S.,
RA Riethman H., Mudunuri U., Peterson J., Guyer M., Felsenfeld A., Old S.,
RA Mockrin S., Collins F.S.;
RT "Genome sequence of the Brown Norway rat yields insights into mammalian
RT evolution.";
RL Nature 428:493-521(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=11035034; DOI=10.1074/jbc.m008099200;
RA Peters M.F., Ross C.A.;
RT "Isolation of a 40-kDa Huntingtin-associated protein.";
RL J. Biol. Chem. 276:3188-3194(2001).
RN [4]
RP FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, INTERACTION WITH
RP HTT AND RAB5A, AND IDENTIFICATION IN A COMPLEX WITH HTT AND RAB5A.
RX PubMed=16476778; DOI=10.1083/jcb.200509091;
RA Pal A., Severin F., Lommer B., Shevchenko A., Zerial M.;
RT "Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early
RT endosome motility and is up-regulated in Huntington's disease.";
RL J. Cell Biol. 172:605-618(2006).
CC -!- FUNCTION: RAB5A effector molecule that is involved in vesicular
CC trafficking of early endosomes. Mediates the recruitment of HTT by
CC RAB5A onto early endosomes. The HTT-F8A1/F8A2/F8A3-RAB5A complex
CC stimulates early endosomal interaction with actin filaments and
CC inhibits interaction with microtubules, leading to the reduction of
CC endosome motility. {ECO:0000269|PubMed:16476778}.
CC -!- SUBUNIT: Interacts with HTT (via C-terminus) (PubMed:16476778).
CC Interacts with RAB5A (PubMed:16476778). Found in a complex with
CC F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A
CC onto early endosomes (PubMed:16476778). {ECO:0000269|PubMed:16476778}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P23610}. Nucleus
CC {ECO:0000250|UniProtKB:P23610}. Early endosome
CC {ECO:0000250|UniProtKB:P23610}. Nucleus, nuclear body
CC {ECO:0000250|UniProtKB:Q00558}. Note=Diffuse presence in the cytoplasm
CC and accumulation in the nucleus (By similarity). In absence of HTT,
CC F8A1/F8A2/F8A3 is concentred in cytoplasm (By similarity). Colocalized
CC with HTT in endosomes (By similarity). In neuron found in intranuclear
CC structures, the intranuclear rodlets (INRs), also known as rodlets of
CC Roncoroni, in association with ubiquitin (By similarity).
CC {ECO:0000250|UniProtKB:P23610, ECO:0000250|UniProtKB:Q00558}.
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DR EMBL; AABR07004507; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH474110; EDL82845.1; -; Genomic_DNA.
DR RefSeq; NP_001102793.1; NM_001109323.1.
DR AlphaFoldDB; M0RDU0; -.
DR SMR; M0RDU0; -.
DR STRING; 10116.ENSRNOP00000067799; -.
DR PaxDb; M0RDU0; -.
DR Ensembl; ENSRNOT00000094156; ENSRNOP00000092499; ENSRNOG00000070033.
DR Ensembl; ENSRNOT00000096631; ENSRNOP00000086463; ENSRNOG00000070033.
DR Ensembl; ENSRNOT00000096861; ENSRNOP00000092056; ENSRNOG00000070033.
DR Ensembl; ENSRNOT00000102135; ENSRNOP00000077834; ENSRNOG00000070033.
DR GeneID; 501661; -.
DR KEGG; rno:501661; -.
DR CTD; 8263; -.
DR RGD; 1566014; F8a1.
DR eggNOG; ENOG502QQQW; Eukaryota.
DR GeneTree; ENSGT00390000016992; -.
DR HOGENOM; CLU_076185_0_0_1; -.
DR InParanoid; M0RDU0; -.
DR OMA; YAKCESY; -.
DR OrthoDB; 1141704at2759; -.
DR PRO; PR:M0RDU0; -.
DR Proteomes; UP000002494; Chromosome 1.
DR Proteomes; UP000234681; Chromosome 1.
DR Bgee; ENSRNOG00000037327; Expressed in quadriceps femoris and 20 other tissues.
DR GO; GO:0005737; C:cytoplasm; ISO:RGD.
DR GO; GO:0005769; C:early endosome; ISS:UniProtKB.
DR GO; GO:0016604; C:nuclear body; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISO:RGD.
DR GO; GO:1901799; P:negative regulation of proteasomal protein catabolic process; ISS:UniProtKB.
DR GO; GO:0099518; P:vesicle cytoskeletal trafficking; IMP:UniProtKB.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR039494; F8A.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR PANTHER; PTHR16797; PTHR16797; 1.
DR SUPFAM; SSF48452; SSF48452; 1.
PE 1: Evidence at protein level;
KW Acetylation; Cytoplasm; Endosome; Nucleus; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:P23610"
FT CHAIN 2..381
FT /note="40-kDa huntingtin-associated protein"
FT /id="PRO_0000448056"
FT REGION 213..260
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 34..36
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000250|UniProtKB:Q00558"
FT COMPBIAS 225..259
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0000250|UniProtKB:P23610"
SQ SEQUENCE 381 AA; 40544 MW; B42934CB7F219CA3 CRC64;
MAAGSASSLG GGSWPGSEAG DFLARYRQVS NKLKKRFLRK PNVAEAGEQF AQLARELRAQ
ECLPYAAWCQ LAVARCQQAL FHGPGEALAL TEAARLFLRQ ECDARQRLGC PAAYGEPLQA
AASALGAAVR LHLELGQPAA AAALCLELAA ALRAVGQPAA AAGHFQRAAQ LHLPLMPLAA
LQALGDAASC QLLARDYTGA LAVFTRMQRL AREHGGHPVQ QPELPQQLPS VPQPSLPGPQ
PRPVLGSTLP LPLPPDHAPG SVAQSPGTLG AFADVLVRCE VSRVLLLLLL QPPPAKLLPE
HAQTLEKYSW EAFDGHGQDS SGQLPEELFL LLQSLVMAAH EKDTEGIKKL QVEMWPLLTA
EQNHLLHLVL QETISPSGQG V
