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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 1

Gene

BLOC1S1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167).2 Publications
May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9.1 Publication

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 1
Short name:
BLOC-1 subunit 1
Alternative name(s):
GCN5-like protein 1
Protein RT14
Gene namesi
Name:BLOC1S1
Synonyms:BLOS1, GCN5L1, RT14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000135441.7
HGNCiHGNC:4200 BLOC1S1
MIMi601444 gene
neXtProtiNX_P78537

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Lysosome, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi2647
OpenTargetsiENSG00000135441
PharmGKBiPA28617

Polymorphism and mutation databases

BioMutaiBLOC1S1
DMDMi332278161

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001563311 – 153Biogenesis of lysosome-related organelles complex 1 subunit 1Add BLAST153

Proteomic databases

EPDiP78537
MaxQBiP78537
PaxDbiP78537
PeptideAtlasiP78537
PRIDEiP78537
ProteomicsDBi57639
57640 [P78537-2]

PTM databases

iPTMnetiP78537
PhosphoSitePlusiP78537

Expressioni

Gene expression databases

BgeeiENSG00000135441 Expressed in 92 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_BLOC1S1
ExpressionAtlasiP78537 baseline and differential
GenevisibleiP78537 HS

Organism-specific databases

HPAiHPA021381

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8 (PubMed:15102850, PubMed:22203680). The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos (By similarity). Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Interacts with ATP5F1A and NDUFA9; involved in their acetylation on lysine residues (PubMed:22309213). Interacts with KXD1 (By similarity).By similarity4 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi108917, 29 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CPX-1911 BLOC1S1-CNO-PLDN complex
CORUMiP78537
IntActiP78537, 15 interactors
STRINGi9606.ENSP00000447537

Structurei

3D structure databases

ProteinModelPortaliP78537
SMRiP78537
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili27 – 59Sequence analysisAdd BLAST33

Sequence similaritiesi

Belongs to the BLOC1S1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3390 Eukaryota
ENOG4111NES LUCA
GeneTreeiENSGT00390000002689
HOGENOMiHOG000005725
HOVERGENiHBG050694
InParanoidiP78537
KOiK20185
OMAiQWISMVE
OrthoDBiEOG091G0V8A
TreeFamiTF314443

Family and domain databases

InterProiView protein in InterPro
IPR009395 BLOC1S1
PANTHERiPTHR13073 PTHR13073, 1 hit
PfamiView protein in Pfam
PF06320 GCN5L1, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative initiation. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P78537-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK
60 70 80 90 100
RRREAITAAT CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK
110 120 130 140 150
QTGQWIGMVE NFNQALKEIG DVENWARSIE LDMRTIATAL EYVYKGQLQS

APS
Length:153
Mass (Da):17,263
Last modified:May 3, 2011 - v2
Checksum:iB7D1FE64F242B25A
GO
Isoform 2 (identifier: P78537-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Note: May be produced by alternative initiation at Met-27 of isoform 1. A polymorphism at position 9 leads to the creation of a stop codon. Isoform 2 is the the only form that exists in orthologs (except primates).
Show »
Length:125
Mass (Da):14,311
Checksum:i68E3FA07A0A4ECED
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VP73F8VP73_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S1
142Annotation score:
F8W606F8W606_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S1
64Annotation score:
G8JLQ3G8JLQ3_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S1
75Annotation score:
H0YHA4H0YHA4_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S1
45Annotation score:

Sequence cautioni

The sequence AAB37682 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0409541 – 28Missing in isoform 2. 2 PublicationsAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D64007 mRNA Translation: BAA10887.1
AC009779 Genomic DNA No translation available.
BC130640 mRNA Translation: AAI30641.1
BC132795 mRNA Translation: AAI32796.1
S82447 mRNA Translation: AAB37682.1 Different initiation.
CCDSiCCDS8889.2 [P78537-1]
PIRiJC4392
RefSeqiNP_001478.2, NM_001487.3 [P78537-1]
UniGeneiHs.600940
Hs.94672

Genome annotation databases

EnsembliENST00000548925; ENSP00000447537; ENSG00000135441 [P78537-1]
GeneIDi2647
KEGGihsa:2647
UCSCiuc001shi.5 human [P78537-1]

Keywords - Coding sequence diversityi

Alternative initiation

Similar proteinsi

Entry informationi

Entry nameiBL1S1_HUMAN
AccessioniPrimary (citable) accession number: P78537
Secondary accession number(s): A1L4Q9, Q6NZ45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 3, 2011
Last modified: September 12, 2018
This is version 140 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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