ID G1P8V6_MYOLU Unreviewed; 707 AA.
AC G1P8V6;
DT 19-OCT-2011, integrated into UniProtKB/TrEMBL.
DT 19-OCT-2011, sequence version 1.
DT 27-MAR-2024, entry version 53.
DE SubName: Full=HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 {ECO:0000313|Ensembl:ENSMLUP00000006624.2};
GN Name=HPS1 {ECO:0000313|Ensembl:ENSMLUP00000006624.2};
OS Myotis lucifugus (Little brown bat).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Chiroptera; Microchiroptera; Vespertilionidae;
OC Myotis.
OX NCBI_TaxID=59463 {ECO:0000313|Ensembl:ENSMLUP00000006624.2, ECO:0000313|Proteomes:UP000001074};
RN [1] {ECO:0000313|Ensembl:ENSMLUP00000006624.2, ECO:0000313|Proteomes:UP000001074}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=21993624; DOI=10.1038/nature10530;
RA Lindblad-Toh K., Garber M., Zuk O., Lin M.F., Parker B.J., Washietl S.,
RA Kheradpour P., Ernst J., Jordan G., Mauceli E., Ward L.D., Lowe C.B.,
RA Holloway A.K., Clamp M., Gnerre S., Alfoldi J., Beal K., Chang J.,
RA Clawson H., Cuff J., Di Palma F., Fitzgerald S., Flicek P., Guttman M.,
RA Hubisz M.J., Jaffe D.B., Jungreis I., Kent W.J., Kostka D., Lara M.,
RA Martins A.L., Massingham T., Moltke I., Raney B.J., Rasmussen M.D.,
RA Robinson J., Stark A., Vilella A.J., Wen J., Xie X., Zody M.C., Baldwin J.,
RA Bloom T., Chin C.W., Heiman D., Nicol R., Nusbaum C., Young S.,
RA Wilkinson J., Worley K.C., Kovar C.L., Muzny D.M., Gibbs R.A., Cree A.,
RA Dihn H.H., Fowler G., Jhangiani S., Joshi V., Lee S., Lewis L.R.,
RA Nazareth L.V., Okwuonu G., Santibanez J., Warren W.C., Mardis E.R.,
RA Weinstock G.M., Wilson R.K., Delehaunty K., Dooling D., Fronik C.,
RA Fulton L., Fulton B., Graves T., Minx P., Sodergren E., Birney E.,
RA Margulies E.H., Herrero J., Green E.D., Haussler D., Siepel A., Goldman N.,
RA Pollard K.S., Pedersen J.S., Lander E.S., Kellis M.;
RT "A high-resolution map of human evolutionary constraint using 29 mammals.";
RL Nature 478:476-482(2011).
RN [2] {ECO:0000313|Ensembl:ENSMLUP00000006624.2}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; AAPE02020086; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; G1P8V6; -.
DR STRING; 59463.ENSMLUP00000006624; -.
DR Ensembl; ENSMLUT00000007259.2; ENSMLUP00000006624.2; ENSMLUG00000007252.2.
DR eggNOG; ENOG502QW8U; Eukaryota.
DR GeneTree; ENSGT00390000015298; -.
DR HOGENOM; CLU_016960_1_0_1; -.
DR InParanoid; G1P8V6; -.
DR OMA; GLVHFMY; -.
DR TreeFam; TF324374; -.
DR Proteomes; UP000001074; Unassembled WGS sequence.
DR GO; GO:0031085; C:BLOC-3 complex; IEA:Ensembl.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:Ensembl.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:Ensembl.
DR GO; GO:0046983; F:protein dimerization activity; IEA:Ensembl.
DR GO; GO:1903232; P:melanosome assembly; IEA:Ensembl.
DR GO; GO:0016192; P:vesicle-mediated transport; IEA:InterPro.
DR InterPro; IPR043972; FUZ/MON1/HPS1_longin_1.
DR InterPro; IPR043971; FUZ/MON1/HPS1_longin_2.
DR InterPro; IPR043970; FUZ/MON1/HPS1_longin_3.
DR InterPro; IPR026053; HPS1.
DR PANTHER; PTHR12761:SF1; HERMANSKY-PUDLAK SYNDROME 1 PROTEIN; 1.
DR PANTHER; PTHR12761; HERMANSKY-PUDLAK SYNDROME PROTEIN 1; 1.
DR Pfam; PF19036; Fuz_longin_1; 1.
DR Pfam; PF19037; Fuz_longin_2; 1.
DR Pfam; PF19038; Fuz_longin_3; 1.
PE 4: Predicted;
KW Reference proteome {ECO:0000313|Proteomes:UP000001074}.
FT DOMAIN 2..155
FT /note="FUZ/MON1/HPS1 first Longin"
FT /evidence="ECO:0000259|Pfam:PF19036"
FT DOMAIN 205..409
FT /note="FUZ/MON1/HPS1 second Longin"
FT /evidence="ECO:0000259|Pfam:PF19037"
FT DOMAIN 547..700
FT /note="FUZ/MON1/HPS1 third Longin"
FT /evidence="ECO:0000259|Pfam:PF19038"
FT REGION 249..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 307..329
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 262..290
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 310..326
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 707 AA; 79702 MW; BB63C4E7E9214C15 CRC64;
MKCVLVATEG AEVLFYWTDE EFEASLRLKF GQSEYEGEEL PALEDQLSTL LAPVIISSMT
MLEKLADTYT CFSTEDGSYL YVLQLFGECL FIAINGDGTE AEGDLRQKLR VLKFLFEVHF
GLVTVDGQLI RKELRPPDTE QRVQVWEHFQ SLLRTHGRLR EREQSFAVEA VERLIHPQLC
ELCIEALERH VVQAVNSSPA RAGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL
VHDLYPSESA AEEDDGDDTQ PSPRRLQSSQ NIPVQQAWRP RSSGPARSST GTVCAVCLRG
GEYFTPAPSP GERSSGSGST VWMDGGTPPT DDSLVQIGED TLQTLMPGFP APSCPRRIFL
DASVKEVYCP MVPHTMYCLP LWPGINMVLL TKSPSAPLAL ALYQLLDGFS LLEKKLKEGQ
EARSSLRSHP LIGDLRQRMD KFVKNRGRQE LQSTWQEFKT KAFSRSDPAS SQELLQLCGK
MKRQLCAIYR LSFLSTAPSR GGPQLAQHLQ DQVQMLMQEK LMDWKDFLLV KSRRNVTMVS
YPHDFPGLVH FIYVDRTTGQ MVAPSLSHSE RASSELGKGP LAAFVRTKVW SLIRRARRYL
QKGYTTLLFR EGDFFCSYFL WFQNEMGHKL QIIEVPVLSD DVAPVGMLGG DYYRKLLRYY
SKDHPAEVVR CHELLALHLS VIPIDVLVQQ AGELAQRLWE SSRVPLL
//
