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WASC5_DANRE
ID   WASC5_DANRE             Reviewed;        1159 AA.
AC   Q7ZVM1;
DT   26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2003, sequence version 1.
DT   03-AUG-2022, entry version 75.
DE   RecName: Full=WASH complex subunit 5 {ECO:0000250|UniProtKB:Q12768};
DE   AltName: Full=WASH complex subunit strumpellin {ECO:0000305};
GN   Name=washc5 {ECO:0000250|UniProtKB:Q12768}; ORFNames=zgc:55908;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=AB;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=24065355; DOI=10.1136/jmedgenet-2013-101715;
RA   Elliott A.M., Simard L.R., Coghlan G., Chudley A.E., Chodirker B.N.,
RA   Greenberg C.R., Burch T., Ly V., Hatch G.M., Zelinski T.;
RT   "A novel mutation in KIAA0196: identification of a gene involved in
RT   Ritscher-Schinzel/3C syndrome in a First Nations cohort.";
RL   J. Med. Genet. 50:819-822(2013).
CC   -!- FUNCTION: Acts at least in part as component of the WASH complex which
CC       seems to regulate washc1 nucleation-promoting factor (NPF) activity and
CC       is required for its membrane targeting during endosomal sorting.
CC       {ECO:0000250|UniProtKB:Q6DIP9}.
CC   -!- SUBUNIT: Component of the WASH complex. {ECO:0000250|UniProtKB:Q12768}.
CC   -!- SUBCELLULAR LOCATION: Early endosome {ECO:0000305}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein induces
CC       cardiac contractile dysfunction and loss of motoneuron formation.
CC       {ECO:0000269|PubMed:24065355}.
CC   -!- SIMILARITY: Belongs to the strumpellin family. {ECO:0000305}.
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DR   EMBL; BC045490; AAH45490.1; -; mRNA.
DR   RefSeq; NP_956477.1; NM_200183.1.
DR   AlphaFoldDB; Q7ZVM1; -.
DR   STRING; 7955.ENSDARP00000008133; -.
DR   PaxDb; Q7ZVM1; -.
DR   PRIDE; Q7ZVM1; -.
DR   GeneID; 393152; -.
DR   KEGG; dre:393152; -.
DR   CTD; 9897; -.
DR   ZFIN; ZDB-GENE-040426-838; washc5.
DR   eggNOG; KOG3666; Eukaryota.
DR   InParanoid; Q7ZVM1; -.
DR   OrthoDB; 88928at2759; -.
DR   PhylomeDB; Q7ZVM1; -.
DR   PRO; PR:Q7ZVM1; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005769; C:early endosome; IEA:UniProtKB-SubCell.
DR   GO; GO:0005768; C:endosome; IBA:GO_Central.
DR   GO; GO:0071203; C:WASH complex; ISS:UniProtKB.
DR   GO; GO:0030041; P:actin filament polymerization; IBA:GO_Central.
DR   GO; GO:0007409; P:axonogenesis; IMP:ZFIN.
DR   GO; GO:0140285; P:endosome fission; IBA:GO_Central.
DR   GO; GO:0007032; P:endosome organization; IBA:GO_Central.
DR   GO; GO:0060047; P:heart contraction; IMP:ZFIN.
DR   GO; GO:0048666; P:neuron development; IMP:ZFIN.
DR   GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR   GO; GO:0051125; P:regulation of actin nucleation; IBA:GO_Central.
DR   InterPro; IPR019393; WASH_strumpellin.
DR   PANTHER; PTHR15691; PTHR15691; 1.
DR   Pfam; PF10266; Strumpellin; 1.
PE   2: Evidence at transcript level;
KW   Endosome; Protein transport; Reference proteome; Transport.
FT   CHAIN           1..1159
FT                   /note="WASH complex subunit 5"
FT                   /id="PRO_0000318931"
SQ   SEQUENCE   1159 AA;  133599 MW;  64BE17D15CFC82A6 CRC64;
     MVDFLAENNL CGQAILRIVS RGNAIIAELL RLSDFIPAVF RLRDKTDQQK YGDIICDFSY
     FKGPEYYEGK LEAKPELQDL DEEFRENNIE ILTRFYLAFE SVHKYVVDLI RCLDDLNEGV
     YIQQTLETVL LNEDGKQLLC EALYLYGVML LVIDQKMEGE VRERMLVSYY RYSAARSSAD
     SNLDDICKLL RSTGYSSHPG AKRPTNYPES YFQRVPISST FISMVIGRLR SDDIYNQVSA
     YPLPEHRSTA LATQAAMLYV CLYFTPSILH TQQAKMREIV DKYFPDNWVI SIYMGITVNL
     VEAWEPYKAA KIALNYTLDT ANIREQAGRY AASVETLRPQ VQQLLKEGFL REEIILDNIP
     KLLNCLRDCN VAIRWLMLHT AESAYDPNNK RLRQIKDQVI NDSKYNPKIL FQLLLDTAQF
     EFILKEMFKQ MLAEKQLKWE SYKKEGSERM MELAEVFSGV KPLTRVEKNE NLQAWFREIS
     KQIESLNYED STAAGRKTVQ LIQALVEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI
     KEEVLITMQI VGDLSYAWQI IDSFTAIMQE SIRANPSMVT KLRATLLKLA SALDLPLLRI
     NQVNSPDLLS VSQFYSGELV AYVRKVLQII PESMFTSLAK IIKLQIHDIM EVPTRLDKDK
     LKDYSQLSAR YEVAKLTHAI SVFTEGILMM KTTLVGIIQV DPKQLLEDGI RKELVKRVAY
     ALHKGLIFNP KAKPSELMPK LKEMAATMDG FYRSFEYIQD YVSIYGLKIW QEEVSRIINY
     NVEQECNSFL RTKIQDWQSV HQSTHIPIPK YPSVDESATF IGRLCREILR ITDPKVTCYI
     DQLNTWYDLR THQEVTNNRL FSEIQDTLGT FGLNGLDRLL CFMIVKELQN FLTVLQKSIL
     KDKAVVDVFK ALLTAVNPVK GIVANASKVY TNAAAKTQKI WSPYLESIMK VGQMQILRQQ
     IANELNYSCK FDSKHLAAAL DNLNKSLLSD IEAHYQDPSL PYPKEDNTLL YEITAYLEAA
     GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ LPKLQYNKSQ GMACRKPADA LDWAPLVLGL
     LTLLKQFHSR YTEQFLALIG QFIRSIMEQC TSQKIPDMPS DVVGALMFLE DYVRYTKLPR
     KVAEAHVPSF IFDEFRTVL
 
 
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