Seroatlas · Human Serome Atlas

BLOC1S4

Biogenesis of lysosome-related organelles complex 1 subunit 4

Also known as: BCAS4L, BL1S4_HUMAN, CNO, FLJ11230

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

Protein identityUniProt · HPA

UniProt accession: Q9NUP1
Gene: BLOC1S4
Ensembl: ENSG00000186222
Chromosome: 4
Canonical length: 217 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>Q9NUP1|BLOC1S4
     1  MEGSFSDGGA LPEGLAEEAE PQGAAWSGDS GTVSQSHSSA SGPWEDEGAE DGAPGRDLPL
    61  LRRAAAGYAA CLLPGAGARP EVEALDASLE DLLTRVDEFV GMLDMLRGDS SHVVSEGVPR
   121  IHAKAAEMRR IYSRIDRLEA FVRMVGGRVA RMEEQVTKAE AELGTFPRAF KKLLHTMNVP
   181  SLFSKSAPSR PQQAGYEAPV LFRTEDYFPC CSERPQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BLOC1S4 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

spleen: 14 nTPM
ovary: 12 nTPM
adrenal gland: 12 nTPM
liver: 12 nTPM
small intestine: 12 nTPM
esophagus: 11 nTPM

Single-cell type

extravillous trophoblasts: 114 nCPM
esophageal apical cells: 113 nCPM
migrating cytotrophoblasts: 96 nCPM
cytotrophoblasts: 73 nCPM
syncytiotrophoblasts: 68 nCPM
hepatic stellate cells: 58 nCPM

Immune cell

eosinophil: 14 nTPM
naive CD4 T-cell: 8.3 nTPM
memory B-cell: 6.3 nTPM
memory CD4 T-cell: 5.4 nTPM
naive B-cell: 5.2 nTPM
T-reg: 5.1 nTPM

Brain region

choroid plexus: 10 nTPM
white matter: 8.8 nTPM
midbrain: 8.6 nTPM
spinal cord: 8.6 nTPM
pons: 8.5 nTPM
thalamus: 8.5 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): 1.87
gnomAD pLI: 0.1
gnomAD missense Z: 0.05
DepMap mean gene effect: 0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cappuccino

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BLOC1S4 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 BLOC1S4 as an antibody target. Whether an autoantibody or antibody against BLOC1S4 could matter depends on whether native BLOC1S4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BLOC1S4 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 BLOC1S4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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