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