BLOC1S5

GENERAL INFORMATION

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Gene name

BLOC1S5

Gene description

Biogenesis of lysosomal organelles complex-1, subunit 5, muted

Protein class

Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Not detected

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues displayed moderate cytoplasmic positivity. Strong immunoreactivity was observed in a subset of cells in lymphoid tissues and bone marrow. The liver and muscle cells were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB025613
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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

GTEx dataset
RNA tissue category:  Not detected

Organ

Expression



GENE INFORMATION

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Gene name

BLOC1S5 (HGNC Symbol)

Synonyms

dJ303A1.3, MU, MUTED

Description

Biogenesis of lysosomal organelles complex-1, subunit 5, muted (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

p24.3

Chromosome location (bp)

8013567 - 8064414

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188428 (version 78.38)

Entrez gene

63915

UniProt

Q8TDH9 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TDH9

Antibodypedia

BLOC1S5 antibodies


PROTEIN BROWSER

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ENST00000397457
 
ENST00000543936
 
 
 
 


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)

BLOC1S5-001 ENSP00000380598
ENST00000397457
Q8TDH9
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Show » Show » 187 21.6 No 0
BLOC1S5-201 ENSP00000445215
ENST00000543936
Show » 90 9.8 No 0