BLOC1S1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate cytoplasmic positivity. Gastric chief cells cells, superficial intestinal glands, endocrine and Leydig cells displayed strong immunoreactivity. Squamous epithelial, ovarian and endometrial stroma were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA021381
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

BLOC1S1 (HGNC Symbol)

Synonyms

BLOS1, 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 78.38)

Entrez gene

2647

UniProt

P78537 (UniProt - Evidence at protein level)

neXtProt

NX_P78537

Antibodypedia

BLOC1S1 antibodies


PROTEIN BROWSER

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ENST00000547076
 
ENST00000548556
 
ENST00000548925
 
ENST00000549147
 
ENST00000551926
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BLOC1S1-001 ENSP00000447537
ENST00000548925
P78537
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Show » Show » 153 17.3 No 0
BLOC1S1-002 ENSP00000450328
ENST00000549147
F8VP73
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Show » 142 16 No 0
BLOC1S1-006 ENSP00000448605
ENST00000547076
G8JLQ3
Show all »
Show » 75 8.6 No 0
BLOC1S1-007 ENSP00000450218
ENST00000548556
G8JLQ3
Show all »
Show » 75 8.6 No 0
BLOC1S1-008 ENSP00000448171
ENST00000551926
F8W606
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Show » 64 7.3 No 0