Seroatlas · Human Serome Atlas

BLOC1S2

Biogenesis of lysosome-related organelles complex 1 subunit 2

Also known as: BL1S2_HUMAN, BLOS2, BORCS2, FLJ30135, MGC10120

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

Protein identityUniProt · HPA

UniProt accession: Q6QNY1
Gene: BLOC1S2
Ensembl: ENSG00000196072
Chromosome: 10
Canonical length: 142 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

142 residues, UniProt reviewed canonical sequence.

>Q6QNY1|BLOC1S2
     1  MAAAAEGVLA TRSDEPARDD AAVETAEEAK EPAEADITEL CRDMFSKMAT YLTGELTATS
    61  EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG LQPYLDQINV IEEQVAALEQ
   121  AAYKLDAYSK KLEAKYKKLE KR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BLOC1S2 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): 0.55
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 69 nTPM
midbrain: 43 nTPM
hypothalamus: 41 nTPM
skeletal muscle: 41 nTPM
cerebral cortex: 40 nTPM
amygdala: 39 nTPM

Single-cell type

esophageal suprabasal cells: 288 nCPM
esophageal apical cells: 216 nCPM
kupffer cells: 193 nCPM
esophageal basal cells: 162 nCPM
hofbauer cells: 121 nCPM
neutrophils: 118 nCPM

Immune cell

neutrophil: 108 nTPM
naive B-cell: 94 nTPM
eosinophil: 81 nTPM
memory B-cell: 75 nTPM
non-classical monocyte: 71 nTPM
intermediate monocyte: 71 nTPM

Brain region

hypothalamus: 40 nTPM
white matter: 40 nTPM
pons: 38 nTPM
midbrain: 35 nTPM
spinal cord: 34 nTPM
medulla oblongata: 33 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): 1.18
gnomAD pLI: 0.01
gnomAD missense Z: 1
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

gamma-tubulin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Biogenesis of lysosome-related organelles complex-1, subunit 2
Biogenesis of lysosome-related organelles complex-1 subunit 2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BLOC1S2 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 BLOC1S2 as an antibody target. Whether an autoantibody or antibody against BLOC1S2 could matter depends on whether native BLOC1S2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BLOC1S2 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 BLOC1S2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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