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TBC23_DANRE
ID   TBC23_DANRE             Reviewed;         680 AA.
AC   Q7SXV1;
DT   15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2003, sequence version 1.
DT   03-AUG-2022, entry version 92.
DE   RecName: Full=TBC1 domain family member 23;
GN   Name=tbc1d23; ORFNames=zgc:63756;
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 (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX   PubMed=28823706; DOI=10.1016/j.ajhg.2017.07.015;
RA   Marin-Valencia I., Gerondopoulos A., Zaki M.S., Ben-Omran T.,
RA   Almureikhi M., Demir E., Guemez-Gamboa A., Gregor A., Issa M.Y.,
RA   Appelhof B., Roosing S., Musaev D., Rosti B., Wirth S., Stanley V.,
RA   Baas F., Barr F.A., Gleeson J.G.;
RT   "Homozygous mutations in TBC1D23 lead to a non-degenerative form of
RT   pontocerebellar hypoplasia.";
RL   Am. J. Hum. Genet. 101:441-450(2017).
CC   -!- FUNCTION: Putative Rab GTPase-activating protein which plays a role in
CC       vesicular trafficking. Involved in endosome-to-Golgi trafficking. Acts
CC       as a bridging protein by binding simultaneously to golgins, located at
CC       the trans-Golgi, and to the WASH complex, located on endosome-derived
CC       vesicles (By similarity). Plays a role in brain development
CC       (PubMed:28823706). May act as a general inhibitor of innate immunity
CC       signaling (By similarity). {ECO:0000250|UniProtKB:Q8K0F1,
CC       ECO:0000250|UniProtKB:Q9NUY8, ECO:0000269|PubMed:28823706}.
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network
CC       {ECO:0000250|UniProtKB:Q9NUY8}. Cytoplasmic vesicle
CC       {ECO:0000250|UniProtKB:Q9NUY8}.
CC   -!- DEVELOPMENTAL STAGE: Detected as early as 1 hour post-fertilization
CC       (hpf). Primarily localized in the head at 48 hpf.
CC       {ECO:0000269|PubMed:28823706}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes
CC       reduced brain and eye size and curved tails at 48 hpf.
CC       {ECO:0000269|PubMed:28823706}.
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DR   EMBL; BC055235; AAH55235.1; -; mRNA.
DR   RefSeq; NP_956781.1; NM_200487.1.
DR   AlphaFoldDB; Q7SXV1; -.
DR   SMR; Q7SXV1; -.
DR   STRING; 7955.ENSDARP00000065137; -.
DR   PaxDb; Q7SXV1; -.
DR   GeneID; 798995; -.
DR   KEGG; dre:798995; -.
DR   CTD; 55773; -.
DR   ZFIN; ZDB-GENE-040426-1253; tbc1d23.
DR   eggNOG; KOG3636; Eukaryota.
DR   InParanoid; Q7SXV1; -.
DR   OrthoDB; 429640at2759; -.
DR   PhylomeDB; Q7SXV1; -.
DR   PRO; PR:Q7SXV1; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0031410; C:cytoplasmic vesicle; ISS:UniProtKB.
DR   GO; GO:0005829; C:cytosol; IEA:GOC.
DR   GO; GO:0005802; C:trans-Golgi network; ISS:UniProtKB.
DR   GO; GO:0007420; P:brain development; IMP:ZFIN.
DR   GO; GO:1990403; P:embryonic brain development; IMP:UniProtKB.
DR   GO; GO:0042147; P:retrograde transport, endosome to Golgi; IBA:GO_Central.
DR   GO; GO:0099041; P:vesicle tethering to Golgi; ISS:UniProtKB.
DR   Gene3D; 3.40.250.10; -; 1.
DR   InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR   InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR   InterPro; IPR001763; Rhodanese-like_dom.
DR   InterPro; IPR036873; Rhodanese-like_dom_sf.
DR   InterPro; IPR039755; TBC1D23.
DR   InterPro; IPR045799; TBC1D23_C.
DR   PANTHER; PTHR13297; PTHR13297; 1.
DR   Pfam; PF00566; RabGAP-TBC; 1.
DR   Pfam; PF00581; Rhodanese; 1.
DR   Pfam; PF19430; TBC1D23_C; 1.
DR   SMART; SM00164; TBC; 1.
DR   SUPFAM; SSF47923; SSF47923; 1.
DR   SUPFAM; SSF52821; SSF52821; 1.
DR   PROSITE; PS50206; RHODANESE_3; 1.
DR   PROSITE; PS50086; TBC_RABGAP; 1.
PE   2: Evidence at transcript level;
KW   Cytoplasmic vesicle; Developmental protein; Golgi apparatus;
KW   Reference proteome.
FT   CHAIN           1..680
FT                   /note="TBC1 domain family member 23"
FT                   /id="PRO_0000287501"
FT   DOMAIN          40..221
FT                   /note="Rab-GAP TBC"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT   DOMAIN          330..442
FT                   /note="Rhodanese"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00173"
SQ   SEQUENCE   680 AA;  76100 MW;  ABE87EF89B3BEBF2 CRC64;
     MADAVGEVLE GSWNQDLADA LDSAVCDLNS DQDGVIQVRD LSPPQRAKLW MIALNVSGKG
     DSLSSWDGVL DLPEQTLIHS RSQQLIDELG IPVEEGRDLV SDVESVITFY CKSRNVTFTP
     DLSWPHILKP LLGLQLSRKD LYNCFYAIMN KYIPRDCIVK GRPFHLFRLL LQYHEPEFCS
     FLDTKKITPD SYAINWLGSL FSSHCLPEVT QALWDVYLQQ ADPFLIFFLM LIILVNAKDN
     ILIQEGDNKE EIIKMLEQSP SLLEAEDIED LFSLAQYYNS KTPLSLRKEN HNLFGSSLVA
     LKEEDMDLSQ ALCLPVSVPE ILQANQLQPE GVRFFVVDCR PAEQYNAGHL STAFHLDSDL
     MLHNPSELAL SVKSLLEAQK QSLESGSVAS GEHLCFMGSG REEEDMYMNM VLAHFLQKNK
     EFVSIAKGGF MALQQHLADI NVEGPDNVYV HWIVSTSGSH SSLSSADGEL NSTDGKGVKS
     LVNKMTFALK SKSVNVKEKV ISFIENTSTP VERHVSSSDR VGKPYRGVKP VFSIGDEEEY
     DTDEIDSSSI SDDDRKEIVN IQTWINKPDV KHHIPCNEVK ETGHMFPSHL LITATHMYCL
     REIAARKGFA YIQSRQALNS VVKITSKKKH PELITFKFGN NNAAGVEIVA VERYLIPNAG
     DATKVIKQQI MKVLDALESS
 
 
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