ID A0A2I2YA28_GORGO Unreviewed; 187 AA.
AC A0A2I2YA28;
DT 28-FEB-2018, integrated into UniProtKB/TrEMBL.
DT 28-FEB-2018, sequence version 1.
DT 27-MAR-2024, entry version 30.
DE RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 5 {ECO:0000256|ARBA:ARBA00019580, ECO:0000256|PIRNR:PIRNR037610};
DE Short=BLOC-1 subunit 5 {ECO:0000256|PIRNR:PIRNR037610};
DE AltName: Full=Protein Muted homolog {ECO:0000256|ARBA:ARBA00031992, ECO:0000256|PIRNR:PIRNR037610};
GN Name=BLOC1S5 {ECO:0000313|Ensembl:ENSGGOP00000031754.1};
OS Gorilla gorilla gorilla (Western lowland gorilla).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Gorilla.
OX NCBI_TaxID=9595 {ECO:0000313|Ensembl:ENSGGOP00000031754.1, ECO:0000313|Proteomes:UP000001519};
RN [1] {ECO:0000313|Ensembl:ENSGGOP00000031754.1, ECO:0000313|Proteomes:UP000001519}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Scally A.;
RT "Insights into the evolution of the great apes provided by the gorilla
RT genome.";
RL Submitted (MAY-2011) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Ensembl:ENSGGOP00000031754.1, ECO:0000313|Proteomes:UP000001519}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=22398555; DOI=10.1038/nature10842;
RA Scally A., Dutheil J.Y., Hillier L.W., Jordan G.E., Goodhead I.,
RA Herrero J., Hobolth A., Lappalainen T., Mailund T., Marques-Bonet T.,
RA McCarthy S., Montgomery S.H., Schwalie P.C., Tang Y.A., Ward M.C., Xue Y.,
RA Yngvadottir B., Alkan C., Andersen L.N., Ayub Q., Ball E.V., Beal K.,
RA Bradley B.J., Chen Y., Clee C.M., Fitzgerald S., Graves T.A., Gu Y.,
RA Heath P., Heger A., Karakoc E., Kolb-Kokocinski A., Laird G.K., Lunter G.,
RA Meader S., Mort M., Mullikin J.C., Munch K., O'Connor T.D., Phillips A.D.,
RA Prado-Martinez J., Rogers A.S., Sajjadian S., Schmidt D., Shaw K.,
RA Simpson J.T., Stenson P.D., Turner D.J., Vigilant L., Vilella A.J.,
RA Whitener W., Zhu B., Cooper D.N., de Jong P., Dermitzakis E.T.,
RA Eichler E.E., Flicek P., Goldman N., Mundy N.I., Ning Z., Odom D.T.,
RA Ponting C.P., Quail M.A., Ryder O.A., Searle S.M., Warren W.C.,
RA Wilson R.K., Schierup M.H., Rogers J., Tyler-Smith C., Durbin R.;
RT "Insights into hominid evolution from the gorilla genome sequence.";
RL Nature 483:169-175(2012).
RN [3] {ECO:0000313|Ensembl:ENSGGOP00000031754.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- FUNCTION: Component of the BLOC-1 complex, a complex that is required
CC for normal biogenesis of lysosome-related organelles (LRO).
CC {ECO:0000256|PIRNR:PIRNR037610}.
CC -!- SIMILARITY: Belongs to the BLOC1S5 family.
CC {ECO:0000256|ARBA:ARBA00010754, ECO:0000256|PIRNR:PIRNR037610}.
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DR EMBL; CABD030043187; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030043188; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABD030043189; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_004043304.2; XM_004043256.2.
DR AlphaFoldDB; A0A2I2YA28; -.
DR SMR; A0A2I2YA28; -.
DR STRING; 9593.ENSGGOP00000031754; -.
DR Ensembl; ENSGGOT00000062155.1; ENSGGOP00000031754.1; ENSGGOG00000040405.1.
DR GeneID; 101128471; -.
DR KEGG; ggo:101128471; -.
DR CTD; 63915; -.
DR GeneTree; ENSGT00390000016974; -.
DR InParanoid; A0A2I2YA28; -.
DR OMA; IFETNEH; -.
DR OrthoDB; 5232538at2759; -.
DR Proteomes; UP000001519; Chromosome 6.
DR Bgee; ENSGGOG00000040405; Expressed in adult mammalian kidney and 6 other cell types or tissues.
DR GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
DR GO; GO:0031083; C:BLOC-1 complex; IBA:GO_Central.
DR GO; GO:0030133; C:transport vesicle; IEA:Ensembl.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; IEA:Ensembl.
DR GO; GO:0035646; P:endosome to melanosome transport; IEA:Ensembl.
DR GO; GO:0032402; P:melanosome transport; IEA:Ensembl.
DR GO; GO:0032474; P:otolith morphogenesis; IEA:Ensembl.
DR GO; GO:0050942; P:positive regulation of pigment cell differentiation; IEA:Ensembl.
DR GO; GO:0016192; P:vesicle-mediated transport; IEA:Ensembl.
DR InterPro; IPR017243; Bloc1s5.
DR PANTHER; PTHR31784; BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1 SUBUNIT 5; 1.
DR PANTHER; PTHR31784:SF2; BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1 SUBUNIT 5; 1.
DR Pfam; PF14942; Muted; 1.
DR PIRSF; PIRSF037610; BLOC-1_complex_muted_subunit; 1.
PE 3: Inferred from homology;
KW Coiled coil {ECO:0000256|SAM:Coils};
KW Reference proteome {ECO:0000313|Proteomes:UP000001519}.
FT REGION 1..26
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 156..187
FT /evidence="ECO:0000256|SAM:Coils"
SQ SEQUENCE 187 AA; 21609 MW; 790D4DE8E97D83D1 CRC64;
MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR PVIQGETRYF
VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD SLSQVLQRLQ AANDSVCRLQ
QREQERKKIH SDHLVASEKQ HMLQWDNFMK EQPNKRAEVD EEHRKAMERL KEQYAEMEKD
LAKFSTF
//
