UBAP1_DANRE
ID UBAP1_DANRE Reviewed; 453 AA.
AC F6P6X0; Q7ZV44;
DT 16-OCT-2019, integrated into UniProtKB/Swiss-Prot.
DT 11-MAY-2016, sequence version 1.
DT 03-AUG-2022, entry version 40.
DE RecName: Full=Ubiquitin-associated protein 1 {ECO:0000303|PubMed:30929741};
DE Short=UBAP-1 {ECO:0000303|PubMed:30929741};
GN Name=ubap1 {ECO:0000303|PubMed:30929741,
GN ECO:0000312|ZFIN:ZDB-GENE-040426-950};
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] (ISOFORM 2).
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=30929741; DOI=10.1016/j.ajhg.2019.03.001;
RA Farazi Fard M.A., Rebelo A.P., Buglo E., Nemati H., Dastsooz H.,
RA Gehweiler I., Reich S., Reichbauer J., Quintans B., Ordonez-Ugalde A.,
RA Cortese A., Courel S., Abreu L., Powell E., Danzi M.C., Martuscelli N.B.,
RA Bis-Brewer D.M., Tao F., Zarei F., Habibzadeh P., Yavarian M.,
RA Modarresi F., Silawi M., Tabatabaei Z., Yousefi M., Farpour H.R.,
RA Kessler C., Mangold E., Kobeleva X., Tournev I., Chamova T., Mueller A.J.,
RA Haack T.B., Tarnopolsky M., Gan-Or Z., Rouleau G.A., Synofzik M.,
RA Sobrido M.J., Jordanova A., Schuele R., Zuchner S., Faghihi M.A.;
RT "Truncating mutations in UBAP1 cause hereditary spastic paraplegia.";
RL Am. J. Hum. Genet. 104:767-773(2019).
RN [4]
RP DISRUPTION PHENOTYPE.
RX PubMed=31203368; DOI=10.1093/brain/awz158;
RA Lin X., Su H.Z., Dong E.L., Lin X.H., Zhao M., Yang C., Wang C., Wang J.,
RA Chen Y.J., Yu H., Xu J., Ma L.X., Xiong Z.Q., Wang N., Chen W.J.;
RT "Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic
RT paraplegia.";
RL Brain 142:2238-2252(2019).
CC -!- FUNCTION: Component of the ESCRT-I complex, a regulator of vesicular
CC trafficking process. Binds to ubiquitinated cargo proteins and is
CC required for the sorting of endocytic ubiquitinated cargos into
CC multivesicular bodies (MVBs). {ECO:0000250|UniProtKB:Q9NZ09}.
CC -!- SUBUNIT: Component of an ESCRT-I complex (endosomal sorting complex
CC required for transport I). {ECO:0000250|UniProtKB:Q9NZ09}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9NZ09}. Endosome
CC {ECO:0000250|UniProtKB:Q9NZ09}. Note=Predominantly cytosolic. Recruited
CC to endosomes as part of the ESCRT-I complex.
CC {ECO:0000250|UniProtKB:Q9NZ09}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=F6P6X0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=F6P6X0-2; Sequence=VSP_060333;
CC -!- DOMAIN: The UMA domain mediates association with the ESCRT-I complex.
CC {ECO:0000250|UniProtKB:Q9NZ09}.
CC -!- DISRUPTION PHENOTYPE: Impaired motor neuron outgrowth, leading to
CC decreased mobility and shorter lifespan (PubMed:31203368). Axon lengths
CC is significantly shorter in motor neurons (PubMed:30929741,
CC PubMed:31203368). {ECO:0000269|PubMed:30929741,
CC ECO:0000269|PubMed:31203368}.
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DR EMBL; CU694487; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC046008; AAH46008.1; -; mRNA.
DR RefSeq; NP_001315273.1; NM_001328344.1. [F6P6X0-1]
DR AlphaFoldDB; F6P6X0; -.
DR SMR; F6P6X0; -.
DR STRING; 7955.ENSDARP00000076116; -.
DR Ensembl; ENSDART00000081676; ENSDARP00000076116; ENSDARG00000058746. [F6P6X0-1]
DR GeneID; 393183; -.
DR KEGG; dre:393183; -.
DR CTD; 51271; -.
DR ZFIN; ZDB-GENE-040426-950; ubap1.
DR GeneTree; ENSGT00390000008092; -.
DR HOGENOM; CLU_943213_0_0_1; -.
DR OMA; ETQYDFS; -.
DR OrthoDB; 683409at2759; -.
DR TreeFam; TF329247; -.
DR Reactome; R-DRE-917729; Endosomal Sorting Complex Required For Transport (ESCRT).
DR PRO; PR:F6P6X0; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 21.
DR Bgee; ENSDARG00000058746; Expressed in cleaving embryo and 29 other tissues.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0000813; C:ESCRT I complex; IBA:GO_Central.
DR GO; GO:0043130; F:ubiquitin binding; IBA:GO_Central.
DR GO; GO:0048675; P:axon extension; IMP:ZFIN.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0043162; P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; IBA:GO_Central.
DR Gene3D; 1.20.120.1920; -; 1.
DR InterPro; IPR015940; UBA.
DR InterPro; IPR009060; UBA-like_sf.
DR InterPro; IPR038870; UBAP1.
DR InterPro; IPR042575; UBAP1_C.
DR InterPro; IPR023340; UMA.
DR PANTHER; PTHR15960; PTHR15960; 2.
DR Pfam; PF00627; UBA; 1.
DR SMART; SM00165; UBA; 2.
DR SUPFAM; SSF46934; SSF46934; 2.
DR PROSITE; PS50030; UBA; 2.
DR PROSITE; PS51497; UMA; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Endosome; Protein transport;
KW Reference proteome; Repeat; Transport.
FT CHAIN 1..453
FT /note="Ubiquitin-associated protein 1"
FT /id="PRO_0000448080"
FT DOMAIN 19..65
FT /note="UMA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00830"
FT DOMAIN 340..381
FT /note="UBA 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00212"
FT DOMAIN 403..449
FT /note="UBA 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00212"
FT REGION 83..119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 189..223
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 260..335
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 197..211
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 287..335
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 142..298
FT /note="Missing (in isoform 2)"
FT /id="VSP_060333"
SQ SEQUENCE 453 AA; 49415 MW; E2CFC3F085646A4B CRC64;
MAARKSGSDI HNNGPVSYLD DVPFKLNEKF RCPSKVGLPI GFCLSDCNAI LSDLQYDFNL
ERRTVQWGEE LAKARAAEAR AAEAIRTDSE SERQAASQDA EVGLVGGKKA RPSDEQDIVP
PALKPVLAGL SHNAILTPLP APSFGQTRPA PSNPAPQYLN LADFEREEDP FDKLELKTLD
DKEELRTILQ SQPQSSVSPP QLPPAEHRPV SPSTTPPLQA KTGIFHKPNG LVGLLDLDRG
GVLGGQIDAD RPCNIRSLTF PKLSDPGDSP LETPLSVYPV APPRNLSNGT PPSLQRTASN
NNTTLPQEQP VFAQNGTPKQ SNPVTVTSHP PAGTTLLSLS PSERQCVETI VGMGYSYEGV
LKAMQRQGQN VEQVLEYLFT HSRLCDRGFD ATAVEECLEM YQGSEEKALE FLQLMSRFGE
MGFERDTIKE VLLVHNNDQD KALEDLMTRA TAS
