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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 1

Gene

BLOC1S1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 ATP5A1 and NDUFA9.1 Publication

GO - Biological processi

  • aerobic respiration Source: UniProtKB
  • anterograde axonal transport Source: UniProtKB
  • anterograde synaptic vesicle transport Source: UniProtKB
  • endosomal transport Source: GO_Central
  • lysosome localization Source: UniProtKB
  • melanosome organization Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • peptidyl-lysine acetylation Source: UniProtKB
  • platelet dense granule organization Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135441-MONOMER.
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

HGNCiHGNC:4200. BLOC1S1.

Subcellular locationi

  • Mitochondrion intermembrane space 1 Publication
  • Mitochondrion matrix 1 Publication
  • Cytoplasmcytosol 1 Publication
  • Lysosome membrane 1 Publication

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • BLOC-1 complex Source: UniProtKB
  • BORC complex Source: UniProtKB
  • cytosol Source: UniProtKB
  • early endosome Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • lysosomal membrane Source: Reactome
  • mitochondrial intermembrane space Source: UniProtKB
  • mitochondrial matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Lysosome, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

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.

PTM databases

iPTMnetiP78537.
PhosphoSitePlusiP78537.

Expressioni

Gene expression databases

BgeeiENSG00000135441.
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 ATP5A1 and NDUFA9; involved in their acetylation on lysine residues (PubMed:22309213). Interacts with KXD1 (By similarity).By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ATP5A1P257052EBI-348630,EBI-351437
BLOC1S2Q6QNY13EBI-348630,EBI-465872
BLOC1S6Q9UL4511EBI-348630,EBI-465781
DTNBP1Q96EV83EBI-348630,EBI-465804
NDUFA9Q167953EBI-348630,EBI-1045087

Protein-protein interaction databases

BioGridi108917. 21 interactors.
IntActiP78537. 13 interactors.
MINTiMINT-1032542.
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

InterProiIPR009395. BLOC1S1.
[Graphical view]
PfamiPF06320. GCN5L1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP78537.
SMRiP78537.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108917. 21 interactors.
IntActiP78537. 13 interactors.
MINTiMINT-1032542.
STRINGi9606.ENSP00000447537.

PTM databases

iPTMnetiP78537.
PhosphoSitePlusiP78537.

Polymorphism and mutation databases

BioMutaiBLOC1S1.
DMDMi332278161.

Proteomic databases

EPDiP78537.
MaxQBiP78537.
PaxDbiP78537.
PeptideAtlasiP78537.
PRIDEiP78537.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2647.
GeneCardsiBLOC1S1.
HGNCiHGNC:4200. BLOC1S1.
HPAiHPA021381.
MIMi601444. gene.
neXtProtiNX_P78537.
OpenTargetsiENSG00000135441.
PharmGKBiPA28617.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135441-MONOMER.
ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.
R-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

ChiTaRSiBLOC1S1. human.
GeneWikiiBLOC1S1.
GenomeRNAii2647.
PROiP78537.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135441.
CleanExiHS_BLOC1S1.
ExpressionAtlasiP78537. baseline and differential.
GenevisibleiP78537. HS.

Family and domain databases

InterProiIPR009395. BLOC1S1.
[Graphical view]
PfamiPF06320. GCN5L1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBL1S1_HUMAN
AccessioniPrimary (citable) accession number: P78537
Secondary accession number(s): A1L4Q9, Q6NZ45
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 3, 2011
Last modified: November 30, 2016
This is version 128 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.