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BLOC1S1

GENERAL INFORMATION

Gene name

 BLOC1S1

Gene description

 Biogenesis of lysosomal organelles complex-1, subunit 1

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA021381
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 BLOC1S1 (HGNC Symbol)

Synonyms

 BLOS1, BORCS1, GCN5L1

Description

 Biogenesis of lysosomal organelles complex-1, subunit 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 12

Cytoband

 q13.2

Chromosome location (bp)

 55716037 - 55720087

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000135441 (version 83.38)

Entrez gene

 2647

UniProt

 P78537 (UniProt - Evidence at protein level)

neXtProt

 NX_P78537

Antibodypedia

 BLOC1S1 antibodies

PROTEIN BROWSER
BLOC1S1-001
BLOC1S1-002
BLOC1S1-006
BLOC1S1-007
BLOC1S1-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BLOC1S1-001
ENSP00000447537
ENST00000548925
P78537 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 1
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0005765 [lysosomal membrane]
GO:0005829 [cytosol]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0008089 [anterograde axon cargo transport]
GO:0009060 [aerobic respiration]
GO:0016197 [endosomal transport]
GO:0018394 [peptidyl-lysine acetylation]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032438 [melanosome organization]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0060155 [platelet dense granule organization]
GO:0061024 [membrane organization]
GO:0070062 [extracellular exosome]
GO:0098779 [mitophagy in response to mitochondrial depolarization]
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 153 aa
17.3 kDa 		No 0
BLOC1S1-002
ENSP00000450328
ENST00000549147
F8VP73 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0031083 [BLOC-1 complex]
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 142 aa
16 kDa 		No 0
BLOC1S1-006
ENSP00000448605
ENST00000547076
G8JLQ3 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0031083 [BLOC-1 complex]
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 75 aa
8.6 kDa 		No 0
BLOC1S1-007
ENSP00000450218
ENST00000548556
G8JLQ3 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0031083 [BLOC-1 complex]
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 75 aa
8.6 kDa 		No 0
BLOC1S1-008
ENSP00000448171
ENST00000551926
F8W606 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0031083 [BLOC-1 complex]
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 64 aa
7.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.