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BLOC1S5

GENERAL INFORMATION

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

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Not detected
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 not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
CAB025613
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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: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 63915

UniProt

 Q8TDH9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8TDH9

Antibodypedia

 BLOC1S5 antibodies

PROTEIN BROWSER
BLOC1S5-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BLOC1S5-001
ENSP00000380598
ENST00000397457
Q8TDH9 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 5
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Predicted intracellular proteins
Plasma proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0008089 [anterograde axon cargo transport]
GO:0030133 [transport vesicle]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032402 [melanosome transport]
GO:0032438 [melanosome organization]
GO:0035646 [endosome to melanosome transport]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0050942 [positive regulation of pigment cell differentiation]
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 187 aa
21.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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