TPC6B_DANRE
ID TPC6B_DANRE Reviewed; 157 AA.
AC F1QMV3; Q5XJB3;
DT 10-OCT-2018, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 1.
DT 03-AUG-2022, entry version 50.
DE RecName: Full=Trafficking protein particle complex subunit 6b {ECO:0000303|PubMed:28626029};
DE Short=TRAPP complex subunit 6B;
GN Name=trappc6b {ECO:0000303|PubMed:28626029};
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 GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=AB; TISSUE=Heart;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=28626029; DOI=10.1136/jmedgenet-2017-104627;
RA Marin-Valencia I., Novarino G., Johansen A., Rosti B., Issa M.Y.,
RA Musaev D., Bhat G., Scott E., Silhavy J.L., Stanley V., Rosti R.O.,
RA Gleeson J.W., Imam F.B., Zaki M.S., Gleeson J.G.;
RT "A homozygous founder mutation in TRAPPC6B associates with a
RT neurodevelopmental disorder characterised by microcephaly, epilepsy and
RT autistic features.";
RL J. Med. Genet. 55:48-54(2018).
CC -!- FUNCTION: Component of a transport protein particle (TRAPP) complex
CC that may function in specific stages of inter-organelle traffic.
CC Specifically involved in the early development of neural circuitry,
CC likely by controlling the frequency and amplitude of intracellular
CC calcium transients implicated in the regulation of neuron
CC differentiation and survival. {ECO:0000269|PubMed:28626029}.
CC -!- SUBUNIT: Homodimer (By similarity). Part of a TRAPP complex (By
CC similarity). {ECO:0000250|UniProtKB:Q86SZ2}.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network {ECO:0000305}.
CC Endoplasmic reticulum {ECO:0000305}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the central nervous system as early
CC as 24 hours post-fertilization. {ECO:0000269|PubMed:28626029}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes
CC neurodevelopmental abnormalities associated with decreased survival
CC rate. Morphants are characterized by microcephaly, brain
CC hyperexcitability and lower seizure threshold.
CC {ECO:0000269|PubMed:28626029}.
CC -!- SIMILARITY: Belongs to the TRAPP small subunits family. BET3 subfamily.
CC {ECO:0000305}.
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DR EMBL; BX927210; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC083391; AAH83391.1; -; mRNA.
DR RefSeq; NP_001006029.1; NM_001006029.1.
DR AlphaFoldDB; F1QMV3; -.
DR SMR; F1QMV3; -.
DR STRING; 7955.ENSDARP00000006381; -.
DR PaxDb; F1QMV3; -.
DR Ensembl; ENSDART00000012963; ENSDARP00000006381; ENSDARG00000016463.
DR GeneID; 450008; -.
DR KEGG; dre:450008; -.
DR CTD; 122553; -.
DR ZFIN; ZDB-GENE-041010-122; trappc6b.
DR eggNOG; KOG3316; Eukaryota.
DR GeneTree; ENSGT00390000012948; -.
DR HOGENOM; CLU_076409_3_1_1; -.
DR InParanoid; F1QMV3; -.
DR OMA; IFDFLHM; -.
DR OrthoDB; 1566836at2759; -.
DR PhylomeDB; F1QMV3; -.
DR TreeFam; TF313010; -.
DR Reactome; R-DRE-204005; COPII-mediated vesicle transport.
DR Reactome; R-DRE-8876198; RAB GEFs exchange GTP for GDP on RABs.
DR PRO; PR:F1QMV3; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 23.
DR Bgee; ENSDARG00000016463; Expressed in mature ovarian follicle and 21 other tissues.
DR GO; GO:0005801; C:cis-Golgi network; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0005802; C:trans-Golgi network; IBA:GO_Central.
DR GO; GO:0030008; C:TRAPP complex; IBA:GO_Central.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; IBA:GO_Central.
DR GO; GO:0007399; P:nervous system development; IEA:UniProtKB-KW.
DR GO; GO:0043087; P:regulation of GTPase activity; IEA:InterPro.
DR CDD; cd14944; TRAPPC6A_Trs33; 1.
DR InterPro; IPR024096; NO_sig/Golgi_transp_ligand-bd.
DR InterPro; IPR007194; TRAPP_component.
DR InterPro; IPR037992; TRAPPC6/Trs33.
DR PANTHER; PTHR12817; PTHR12817; 1.
DR Pfam; PF04051; TRAPP; 1.
DR SUPFAM; SSF111126; SSF111126; 1.
PE 2: Evidence at transcript level;
KW Endoplasmic reticulum; Golgi apparatus; Neurogenesis; Reference proteome.
FT CHAIN 1..157
FT /note="Trafficking protein particle complex subunit 6b"
FT /id="PRO_0000445150"
FT CONFLICT 52
FT /note="K -> Q (in Ref. 2; AAH83391)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 157 AA; 17894 MW; A189AABC41768238 CRC64;
MADEALFQFL HSEIIQYVNS AETGESENGR CVSKLENMGF RVGQGLIERF TKDTPRFKDE
LDVMKFICKD FWTSVFKKQI DNLRTNHQGI YVLQDNKFRL LTQLSAGKQY LEHAPKFLAF
TCGLVRGALS NIGVKSIVTA EVSVMPACKF QVMIQKM