ID   B4DFZ1_HUMAN            Unreviewed;       531 AA.
AC   B4DFZ1;
DT   23-SEP-2008, integrated into UniProtKB/TrEMBL.
DT   23-SEP-2008, sequence version 1.
DT   08-OCT-2025, entry version 62.
DE   SubName: Full=cDNA FLJ54613, highly similar to Mucolipin-1 {ECO:0000313|EMBL:BAG57602.1};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|EMBL:BAG57602.1};
RN   [1] {ECO:0000313|EMBL:BAG57602.1}
RP   NUCLEOTIDE SEQUENCE.
RC   TISSUE=Amygdala {ECO:0000313|EMBL:BAG57602.1};
RA   Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A.,
RA   Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y.,
RA   Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T.,
RA   Sugano S., Nomura N., Isogai T.;
RT   "NEDO human cDNA sequencing project focused on splicing variants.";
RL   Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=Ca(2+)(in) = Ca(2+)(out); Xref=Rhea:RHEA:29671,
CC         ChEBI:CHEBI:29108; Evidence={ECO:0000256|ARBA:ARBA00036634};
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000256|ARBA:ARBA00004651};
CC       Multi-pass membrane protein {ECO:0000256|ARBA:ARBA00004651}. Late
CC       endosome membrane {ECO:0000256|ARBA:ARBA00004107}; Multi-pass membrane
CC       protein {ECO:0000256|ARBA:ARBA00004107}. Lysosome membrane
CC       {ECO:0000256|ARBA:ARBA00004155}; Multi-pass membrane protein
CC       {ECO:0000256|ARBA:ARBA00004155}.
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DR   EMBL; AK294330; BAG57602.1; -; mRNA.
DR   AlphaFoldDB; B4DFZ1; -.
DR   PeptideAtlas; B4DFZ1; -.
DR   GO; GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005765; C:lysosomal membrane; HDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005262; F:calcium channel activity; IEA:UniProtKB-ARBA.
DR   CDD; cd21070; ELD_TRPML1; 1.
DR   FunFam; 1.10.287.70:FF:000033; Mucolipin 1; 1.
DR   Gene3D; 1.10.287.70; -; 1.
DR   InterPro; IPR049134; MCLN_ECD.
DR   InterPro; IPR047316; ML1_ELD.
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   2: Evidence at transcript level;
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   Lysosome {ECO:0000256|ARBA:ARBA00023228};
KW   Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius};
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        17..36
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   TRANSMEM        250..272
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   TRANSMEM        304..324
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   TRANSMEM        336..356
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   TRANSMEM        376..398
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   TRANSMEM        447..468
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   DOMAIN          42..236
FT                   /note="Mucolipin extracytosolic"
FT                   /evidence="ECO:0000259|Pfam:PF21381"
FT   DOMAIN          336..475
FT                   /note="Polycystin cation channel PKD1/PKD2"
FT                   /evidence="ECO:0000259|Pfam:PF08016"
SQ   SEQUENCE   531 AA;  59685 MW;  5A15B061C5306641 CRC64;
     MSPCDKFRAK GRKPCKLMLQ VVKILVVTVQ LILFGLSNQL AVTFREENTI AFRHLFLLGY
     SDGADDTFAA YTREQLYQAI FHAVDQYLAL PDVSLGRYAY VRGGGDPWTN GSGLALCQRY
     YHRGHVDPAN DTFDIDPMVV TDCIQVDPPE RPPPPPSDDL TLLESSSSYK NLTLKFHKLV
     NVTIHFRLKT INLQSLINNE IPDCYTFSVL ITFDNKAHSG RIPISLETQA HIQECKHPSV
     FQHGDNSFRL LFDVVVILTC SLSFLLCARS LLRGFLLQNE FVGFMWRQRG RVISLWERLE
     FVNGWYILLV TSDVLTISGT IMKIGIEAKN LASYDVCSIL LGTSTLLVWV GVIRYLTFFH
     NYNILIATLR VALPSVMRFC CCVAVIYLGY CFCGWIVLGP YHVKFRSLSM VSECLFSLIN
     GDDMFVTFAA MQAQQGRSSL VWLFSQLYLY SFISLFIYMV LSLFIALITG AYDTIKHPGG
     AGAEESELQA YIAQCQDSPT SGKFRRGSGS ACSLLCCCGR DPSEEHSLLV N
//