BLOC1S5

Protein identityUniProt · HPA

UniProt accession

Q8TDH9

Gene

BLOC1S5

Ensembl

ENSG00000188428

Chromosome

6

Canonical length

187 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

187 residues, UniProt reviewed canonical sequence.

>Q8TDH9|BLOC1S5
     1  MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR PVIQGETRYF
    61  VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD SLSQVLQRLQ AANDSVCRLQ
   121  QREQERKKIH SDHLVASEKQ HMLQWDNFMK EQPNKRAEVD EEHRKAMERL KEQYAEMEKD
   181  LAKFSTF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BLOC1S5 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)

0.52

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BLOC1S5.

Disease | AllUniProt

Conditions BLOC1S5 is implicated in, by any mechanism.

• Hermansky-Pudlak syndrome 11 (HPS11) MIM:619172

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 54 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hermansky-Pudlak syndrome 11
• Hermansky-Pudlak syndrome
• BLOC1S5-related disorder

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)

1.81

gnomAD pLI

0

gnomAD missense Z

-0.25

DepMap mean gene effect

0.15

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterograde axonal transport
• anterograde synaptic vesicle transport
• endosome to melanosome transport
• melanosome organization
• melanosome transport
• neuron projection development
• otolith morphogenesis
• positive regulation of pigment cell differentiation
• vesicle-mediated transport

Cellular components

• axon cytoplasm
• BLOC-1 complex
• microvesicle
• transport vesicle

Protein domainsUniProt · Pfam · InterPro

• Biogenesis of lysosome-related organelles complex 1 subunit 5
• Organelle biogenesis, Muted-like protein

KeywordsUniProt

• Acetylation
• Albinism
• Coiled coil
• Hermansky-Pudlak syndrome

InteractionsUniProt · HPA

Protein binding partners of BLOC1S5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BLOC1S4
• BLOC1S6
• PI4K2A
• BLOC1S2
• BLOC1S3
• DTNBP1