BL1S1_PONAB
ID BL1S1_PONAB Reviewed; 153 AA.
AC Q5R7L8;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 2.
DT 25-MAY-2022, entry version 87.
DE RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;
DE Short=BLOC-1 subunit 1;
GN Name=BLOC1S1;
OS Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Pongo.
OX NCBI_TaxID=9601;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Heart;
RG The German cDNA consortium;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Component of the BLOC-1 complex, a complex that is required
CC for normal biogenesis of lysosome-related organelles (LRO), such as
CC platelet dense granules and melanosomes. In concert with the AP-3
CC complex, the BLOC-1 complex is required to target membrane protein
CC cargos into vesicles assembled at cell bodies for delivery into
CC neurites and nerve terminals. The BLOC-1 complex, in association with
CC SNARE proteins, is also proposed to be involved in neurite extension.
CC As part of the BORC complex may play a role in lysosomes movement and
CC localization at the cell periphery. The BORC complex is most probably
CC associated with the cytosolic face of lysosomes, may recruit ARL8B and
CC couple lysosomes to microtubule plus-end-directed kinesin motor.
CC {ECO:0000250|UniProtKB:P78537}.
CC -!- FUNCTION: May negatively regulate aerobic respiration through
CC mitochondrial protein lysine-acetylation. May counteract the action of
CC the deacetylase SIRT3 by acetylating and regulating proteins of the
CC mitochondrial respiratory chain including ATP5F1A and NDUFA9.
CC {ECO:0000250|UniProtKB:P78537}.
CC -!- SUBUNIT: Component of the biogenesis of lysosome-related organelles
CC complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4,
CC BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed
CC of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6,
CC DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with
CC the AP-3 protein complex and membrane protein cargos. Component of the
CC BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2,
CC BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN. Interacts with ATP5F1A
CC and NDUFA9; involved in their acetylation on lysine residues. Interacts
CC with KXD1. {ECO:0000250|UniProtKB:O55102,
CC ECO:0000250|UniProtKB:P78537}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion intermembrane space
CC {ECO:0000250|UniProtKB:P78537}. Mitochondrion matrix
CC {ECO:0000250|UniProtKB:P78537}. Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:P78537}. Lysosome membrane
CC {ECO:0000250|UniProtKB:P78537}.
CC -!- SIMILARITY: Belongs to the BLOC1S1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAH92242.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; CR860096; CAH92242.1; ALT_INIT; mRNA.
DR RefSeq; NP_001128967.2; NM_001135495.2.
DR AlphaFoldDB; Q5R7L8; -.
DR SMR; Q5R7L8; -.
DR STRING; 9601.ENSPPYP00000005273; -.
DR Ensembl; ENSPPYT00000005480; ENSPPYP00000005273; ENSPPYG00000004627.
DR GeneID; 100190807; -.
DR KEGG; pon:100190807; -.
DR CTD; 2647; -.
DR eggNOG; KOG3390; Eukaryota.
DR GeneTree; ENSGT00390000002689; -.
DR HOGENOM; CLU_115602_3_0_1; -.
DR InParanoid; Q5R7L8; -.
DR OMA; HSATNFA; -.
DR OrthoDB; 1603359at2759; -.
DR TreeFam; TF314443; -.
DR Proteomes; UP000001595; Chromosome 12.
DR GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
DR GO; GO:0031083; C:BLOC-1 complex; ISS:UniProtKB.
DR GO; GO:0099078; C:BORC complex; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0005769; C:early endosome; IEA:Ensembl.
DR GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005758; C:mitochondrial intermembrane space; ISS:UniProtKB.
DR GO; GO:0005759; C:mitochondrial matrix; ISS:UniProtKB.
DR GO; GO:0009060; P:aerobic respiration; ISS:UniProtKB.
DR GO; GO:0008089; P:anterograde axonal transport; ISS:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; ISS:UniProtKB.
DR GO; GO:0032418; P:lysosome localization; ISS:UniProtKB.
DR GO; GO:0031175; P:neuron projection development; ISS:UniProtKB.
DR GO; GO:0018394; P:peptidyl-lysine acetylation; ISS:UniProtKB.
DR InterPro; IPR009395; BLOC1S1.
DR PANTHER; PTHR13073; PTHR13073; 1.
DR Pfam; PF06320; GCN5L1; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Cytoplasm; Lysosome; Membrane; Mitochondrion;
KW Reference proteome.
FT CHAIN 1..153
FT /note="Biogenesis of lysosome-related organelles complex 1
FT subunit 1"
FT /id="PRO_0000156333"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 26..58
FT /evidence="ECO:0000255"
SQ SEQUENCE 153 AA; 17263 MW; B7D1FE64F242B25A CRC64;
MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK RRREAITAAT
CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK QTGQWIGMVE NFNQALKEIG
DVENWARSIE LDMRTIATAL EYVYKGQLQS APS