Seroatlas · Human Serome Atlas

BLOC1S1

Biogenesis of lysosome-related organelles complex 1 subunit 1

Also known as: BL1S1_HUMAN, BLOS1, BORCS1, GCN5L1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P78537
Gene: BLOC1S1
Ensembl: ENSG00000135441
Chromosome: 12
Canonical length: 153 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

153 residues, UniProt reviewed canonical sequence.

>P78537|BLOC1S1
     1  MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK RRREAITAAT
    61  CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK QTGQWIGMVE NFNQALKEIG
   121  DVENWARSIE LDMRTIATAL EYVYKGQLQS APS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BLOC1S1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 308 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 308 nTPM
spinal cord: 274 nTPM
amygdala: 261 nTPM
choroid plexus: 256 nTPM
midbrain: 247 nTPM
hippocampal formation: 228 nTPM

Single-cell type

enterocytes: 898 nCPM
colonocytes: 711 nCPM
esophageal apical cells: 639 nCPM
hofbauer cells: 387 nCPM
parietal cells: 364 nCPM
kupffer cells: 353 nCPM

Immune cell

eosinophil: 759 nTPM
total PBMC: 644 nTPM
neutrophil: 642 nTPM
basophil: 623 nTPM
non-classical monocyte: 595 nTPM
intermediate monocyte: 549 nTPM

Brain region

white matter: 124 nTPM
hypothalamus: 105 nTPM
cerebellum: 104 nTPM
medulla oblongata: 100 nTPM
spinal cord: 100 nTPM
basal ganglia: 92 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.96
gnomAD pLI: 0.07
gnomAD missense Z: -0.03
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein-lysine-acetyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Biogenesis of lysosome-related organelles complex 1 subunit 1
GCN5-like protein 1 (GCN5L1)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BLOC1S1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BLOC1S1 as an antibody target. Whether an autoantibody or antibody against BLOC1S1 could matter depends on whether native BLOC1S1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BLOC1S1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BLOC1S1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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