TAPT1_DANRE
ID TAPT1_DANRE Reviewed; 567 AA.
AC A2BIE7;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 82.
DE RecName: Full=Transmembrane anterior posterior transformation protein 1 homolog;
GN Name=tapt1; Synonyms=tapt1b; ORFNames=si:dkey-92j12.3;
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 FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=26365339; DOI=10.1016/j.ajhg.2015.08.009;
RA Symoens S., Barnes A.M., Gistelinck C., Malfait F., Guillemyn B.,
RA Steyaert W., Syx D., D'hondt S., Biervliet M., De Backer J., Witten E.P.,
RA Leikin S., Makareeva E., Gillessen-Kaesbach G., Huysseune A., Vleminckx K.,
RA Willaert A., De Paepe A., Marini J.C., Coucke P.J.;
RT "Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal
RT Osteochondrodysplasia.";
RL Am. J. Hum. Genet. 97:521-534(2015).
CC -!- FUNCTION: Plays a role in primary cilia formation (PubMed:26365339).
CC Involved in cartilage and bone development (PubMed:26365339). May play
CC a role in the differentiation of cranial neural crest cells
CC (PubMed:26365339). May act as a downstream effector of hoxc8 during
CC development (By similarity). {ECO:0000250|UniProtKB:Q4VBD2,
CC ECO:0000269|PubMed:26365339}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000250|UniProtKB:Q6NXT6}. Cytoplasm,
CC cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q6NXT6}.
CC Membrane {ECO:0000250|UniProtKB:Q6NXT6}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:Q6NXT6}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the otic vesicle at 1 days post
CC fertilization (dpf) (PubMed:26365339). Expressed in mesenchyme pectoral
CC fins surrounding the cartilage of the endoskeletal disc, and in the
CC epithelial cells of the oral cavity at 3 dpf (PubMed:26365339).
CC Expressed weakly in the pronephric duct and the liver at 3 dpf
CC (PubMed:26365339). {ECO:0000269|PubMed:26365339}.
CC -!- SIMILARITY: Belongs to the TAPT1 family. {ECO:0000305}.
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DR EMBL; BX908795; CAM16491.1; -; Genomic_DNA.
DR RefSeq; NP_001116722.1; NM_001123250.1.
DR AlphaFoldDB; A2BIE7; -.
DR SMR; A2BIE7; -.
DR STRING; 7955.ENSDARP00000081301; -.
DR PaxDb; A2BIE7; -.
DR PRIDE; A2BIE7; -.
DR Ensembl; ENSDART00000086867; ENSDARP00000081301; ENSDARG00000061143.
DR GeneID; 559710; -.
DR KEGG; dre:559710; -.
DR CTD; 559710; -.
DR ZFIN; ZDB-GENE-030131-4025; tapt1b.
DR eggNOG; KOG2490; Eukaryota.
DR GeneTree; ENSGT00390000010628; -.
DR HOGENOM; CLU_003655_3_0_1; -.
DR InParanoid; A2BIE7; -.
DR OMA; SYFMMHY; -.
DR OrthoDB; 572763at2759; -.
DR PhylomeDB; A2BIE7; -.
DR TreeFam; TF105962; -.
DR PRO; PR:A2BIE7; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 1.
DR Bgee; ENSDARG00000061143; Expressed in retina and 23 other tissues.
DR GO; GO:0005813; C:centrosome; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0051216; P:cartilage development; IEA:UniProtKB-KW.
DR GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
DR GO; GO:1904888; P:cranial skeletal system development; IMP:ZFIN.
DR GO; GO:0035437; P:maintenance of protein localization in endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0014032; P:neural crest cell development; IMP:UniProtKB.
DR GO; GO:0001503; P:ossification; IMP:ZFIN.
DR GO; GO:1903012; P:positive regulation of bone development; IMP:UniProtKB.
DR GO; GO:0061036; P:positive regulation of cartilage development; IMP:UniProtKB.
DR GO; GO:0045724; P:positive regulation of cilium assembly; IMP:UniProtKB.
DR InterPro; IPR008010; Tatp1.
DR PANTHER; PTHR13317; PTHR13317; 1.
DR Pfam; PF05346; DUF747; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Chondrogenesis; Cilium; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Developmental protein; Differentiation; Membrane;
KW Osteogenesis; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..567
FT /note="Transmembrane anterior posterior transformation
FT protein 1 homolog"
FT /id="PRO_0000328875"
FT TRANSMEM 108..128
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 165..185
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 233..253
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 332..352
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 400..420
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 426..446
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 465..543
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 498..526
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 528..543
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 567 AA; 64778 MW; 0B650B8E02533281 CRC64;
MADSVAAGLG DENETENEDK EREKRLFSGV KKMEKQAAAS DVTETLGFYE RKAKCKDRKT
NVSDLSLVRF ISAELTRGYF LEHNEAKYTE RRERVYTCLR IPKELEKLMI FGYFLCLDVF
LYVFTLLPLR VLLALVRLLT LPCCGLSGSR ILQPAQVCDV LKGFIMVLCY FMMHYVDYSM
MYHLIRGQSV IKLYIIYNML EVADRLFSSF GQDILDALYW TATEPKERKR AHIGVIPHFF
MAVLYVFLHA ILIMVQATTL NVAFNSHNKS LLTIMMSNNF VEIKGSVFKK FEKNNLFQMS
NSDIKERFTN YTLLLIVCLR NMEQFSWNPD HLWVLFPDVC MVIASEIAVD VVKHAFITKF
NDITADVYSE YRASLAFDLV SSRQKNAYTD YSDSVSRRMG FIPLPLALLL IRVVTSSVKI
QGSLSIVCVL LFYLGMITLK VLNSIVLLGK SCMYVKEANM EEKLFQNPPS AAPSRVSSRA
HRTKHTREPP GDPAEEGMSA SVTTQPTQQD ECPAPQIPTS ESDQFLTTPD ESEEKSLIQD
DSELKHRAPK KDLLEIDRFT ICGNRID
