ID W5LJ82_ASTMX Unreviewed; 535 AA.
AC W5LJ82;
DT 16-APR-2014, integrated into UniProtKB/TrEMBL.
DT 05-DEC-2018, sequence version 2.
DT 27-MAR-2024, entry version 55.
DE SubName: Full=Bardet-Biedl syndrome 4 {ECO:0000313|Ensembl:ENSAMXP00000019894.2};
OS Astyanax mexicanus (Blind cave fish) (Astyanax fasciatus mexicanus).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Characiformes;
OC Characoidei; Characidae; Astyanax.
OX NCBI_TaxID=7994 {ECO:0000313|Ensembl:ENSAMXP00000019894.2, ECO:0000313|Proteomes:UP000018467};
RN [1] {ECO:0000313|Proteomes:UP000018467}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=female {ECO:0000313|Proteomes:UP000018467};
RA Jeffery W., Warren W., Wilson R.K.;
RL Submitted (MAR-2013) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Proteomes:UP000018467}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=female {ECO:0000313|Proteomes:UP000018467};
RX PubMed=25329095; DOI=10.1038/ncomms6307;
RA McGaugh S.E., Gross J.B., Aken B., Blin M., Borowsky R., Chalopin D.,
RA Hinaux H., Jeffery W.R., Keene A., Ma L., Minx P., Murphy D., O'Quin K.E.,
RA Retaux S., Rohner N., Searle S.M., Stahl B.A., Tabin C., Volff J.N.,
RA Yoshizawa M., Warren W.C.;
RT "The cavefish genome reveals candidate genes for eye loss.";
RL Nat. Commun. 5:5307-5307(2014).
RN [3] {ECO:0000313|Ensembl:ENSAMXP00000019894.2}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC {ECO:0000256|ARBA:ARBA00004309}.
CC -!- SIMILARITY: Belongs to the BBS4 family.
CC {ECO:0000256|ARBA:ARBA00023778}.
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DR AlphaFoldDB; W5LJ82; -.
DR Ensembl; ENSAMXT00000019894.2; ENSAMXP00000019894.2; ENSAMXG00000019249.2.
DR eggNOG; KOG1124; Eukaryota.
DR GeneTree; ENSGT00940000158166; -.
DR HOGENOM; CLU_033477_1_0_1; -.
DR OrthoDB; 5481067at2759; -.
DR Proteomes; UP000018467; Unassembled WGS sequence.
DR Bgee; ENSAMXG00000019249; Expressed in camera-type eye and 14 other cell types or tissues.
DR Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 3.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR44186; -; 1.
DR PANTHER; PTHR44186:SF1; BARDET-BIEDL SYNDROME 4 PROTEIN; 1.
DR Pfam; PF13414; TPR_11; 1.
DR Pfam; PF14559; TPR_19; 1.
DR Pfam; PF13181; TPR_8; 3.
DR SMART; SM00028; TPR; 9.
DR SUPFAM; SSF81901; HCP-like; 2.
DR PROSITE; PS50005; TPR; 4.
DR PROSITE; PS50293; TPR_REGION; 2.
PE 3: Inferred from homology;
KW Cell projection {ECO:0000256|ARBA:ARBA00023273};
KW Cilium {ECO:0000256|ARBA:ARBA00023069};
KW Reference proteome {ECO:0000313|Proteomes:UP000018467};
KW Repeat {ECO:0000256|ARBA:ARBA00022737};
KW TPR repeat {ECO:0000256|ARBA:ARBA00022803, ECO:0000256|PROSITE-
KW ProRule:PRU00339}.
FT REPEAT 169..202
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REPEAT 203..236
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REPEAT 305..338
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REPEAT 339..372
FT /note="TPR"
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00339"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 438..535
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 441..481
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 516..535
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 535 AA; 60001 MW; 81EBEB48C9469321 CRC64;
MADEETVKAD APLPVATDPK KPRLKKAPEL PILERRNWLI HLHYIRKDYE TCKAIIKEQL
QETQGMCEYA VYVQALILRL EGKIQQSLEL FQSCAILNPT SSDNLKQVAR SLFLLGKHKA
AIEVYNEAAR LNQKDWEISH NLGVCYIYTK DFKSAEEQLN LALQLNKHDM TYMMLGKIYL
LEGDTEKAIE IYKKAVEFSS ENTELLTTLG LLYMQLGKYQ KAFEHLGNAL TYDPNNYKAI
LAAGSMMQTH GDFDVAMNKY RVAAFTVPES PPLWNNIGMC FFGKKKYVAA ISCLKRANYL
SPFDWKILYN LGLVHLTMQQ YASAFHFLSA AINLQPRMGE LYMLLAVALT NLDDVDNARR
SYEQAIQLDT SNPLVNLNFA VLLYNQGDKK AALQQYQEME KKVNMLVESN SNTEFDPELI
EMAQKMGAAL QAGENLFWSK PGKESKNSQH SSSNKAASSQ QPLGTNQALG QAMSSAAGYS
KSIRLATEPE PDVESAPSPP TEPPGEAEAE DDVEEAVEPP KAKEKKKSKP KAVAE
//