ID W5L6W3_ASTMX Unreviewed; 542 AA.
AC W5L6W3;
DT 16-APR-2014, integrated into UniProtKB/TrEMBL.
DT 05-DEC-2018, sequence version 2.
DT 27-MAR-2024, entry version 52.
DE SubName: Full=Mucolipin 1b {ECO:0000313|Ensembl:ENSAMXP00000015575.2};
GN Name=MCOLN1 {ECO:0000313|Ensembl:ENSAMXP00000015575.2};
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:ENSAMXP00000015575.2, 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:ENSAMXP00000015575.2}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- SUBCELLULAR LOCATION: Endosome membrane
CC {ECO:0000256|ARBA:ARBA00004337}; Multi-pass membrane protein
CC {ECO:0000256|ARBA:ARBA00004337}. Membrane
CC {ECO:0000256|ARBA:ARBA00004141}; Multi-pass membrane protein
CC {ECO:0000256|ARBA:ARBA00004141}.
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DR AlphaFoldDB; W5L6W3; -.
DR STRING; 7994.ENSAMXP00000015575; -.
DR Ensembl; ENSAMXT00000015575.2; ENSAMXP00000015575.2; ENSAMXG00000015134.2.
DR eggNOG; KOG3733; Eukaryota.
DR GeneTree; ENSGT00950000183036; -.
DR HOGENOM; CLU_020945_1_1_1; -.
DR InParanoid; W5L6W3; -.
DR Proteomes; UP000018467; Unassembled WGS sequence.
DR Bgee; ENSAMXG00000015134; Expressed in olfactory epithelium and 14 other cell types or tissues.
DR GO; GO:0010008; C:endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005770; C:late endosome; IEA:Ensembl.
DR GO; GO:0005764; C:lysosome; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW.
DR GO; GO:0005261; F:monoatomic cation channel activity; IEA:InterPro.
DR GO; GO:0006914; P:autophagy; IEA:Ensembl.
DR GO; GO:0035675; P:neuromast hair cell development; IEA:Ensembl.
DR GO; GO:0001895; P:retina homeostasis; IEA:Ensembl.
DR Gene3D; 1.10.287.70; -; 1.
DR InterPro; IPR049134; MCLN_ECD.
DR InterPro; IPR039031; Mucolipin.
DR InterPro; IPR013122; PKD1_2_channel.
DR PANTHER; PTHR12127; MUCOLIPIN; 1.
DR PANTHER; PTHR12127:SF6; MUCOLIPIN-1; 1.
DR Pfam; PF21381; MCLN_ECD; 1.
DR Pfam; PF08016; PKD_channel; 1.
PE 4: Predicted;
KW Cell membrane {ECO:0000256|ARBA:ARBA00022475};
KW Disulfide bond {ECO:0000256|ARBA:ARBA00023157};
KW Endosome {ECO:0000256|ARBA:ARBA00022753};
KW Ion channel {ECO:0000256|ARBA:ARBA00023303};
KW Ion transport {ECO:0000256|ARBA:ARBA00023065};
KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius};
KW Reference proteome {ECO:0000313|Proteomes:UP000018467};
KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius};
KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989,
KW ECO:0000256|SAM:Phobius}; Transport {ECO:0000256|ARBA:ARBA00022448}.
FT TRANSMEM 56..75
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT TRANSMEM 331..350
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT TRANSMEM 362..382
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT TRANSMEM 402..424
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT TRANSMEM 470..495
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 80..262
FT /note="Mucolipin extracytosolic"
FT /evidence="ECO:0000259|Pfam:PF21381"
FT DOMAIN 362..498
FT /note="Polycystin cation channel PKD1/PKD2"
FT /evidence="ECO:0000259|Pfam:PF08016"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 542 AA; 61492 MW; 1F4453BF1D66970B CRC64;
GDLRPQGSRP SLDVSSSSLW RRSEEEEEEA LRRKLKYFFM SPCDKYHAKG RKPYKLVLQM
LKIVIVTVQL VLFGLSNQMV VMFKDENTDT FRHLFLQDYQ DDSDGLAVHT QSDVYQHMHY
AIDQYLTLSQ NSVSMYAYVM GSGVNASALS LCQRYYKKGR IDPVNDTFNI DPRIITDCIG
VNPPADPSAP IPDDYKNFTL KFHKLINVTI KFKLKAINIQ SIINNEIPDC YTFSVTILFD
NRAHSGKVKI SLRNQAVITE CRDPNVSGHK ENYLRVAFDV LVAVVCGLSL ALCGRSILRG
IALQHEFERF FRQSLGRQVC WADRMEFING WYLLLIISDV LTIIASFIKI GIETKNLSSY
DVCGILMGTS TLLVWVGVIR YLSFFQKYNI LIVTLRAAFP SVIRFCCCAA AIYLGYVFCG
WIVLGPYHAK FRSLSTVSEC LFSLINGDDM FATFSEVERS GTLVWLFSQV YLYTFISLFI
YMVLSLFIAL ITGAYDTITQ QAQEPVQVSA LHKFIAECTD TPTSGNFHSP ENTTCSLFCC
CN
//
