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BLOC1S4

GENERAL INFORMATION

Gene name

 BLOC1S4

Gene description

 Biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino

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:Expressed in all
GTEx: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. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA043840
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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

Breast

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

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

 BLOC1S4 (HGNC Symbol)

Synonyms

 BCAS4L, CNO, FLJ11230

Description

 Biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino (HGNC Symbol)

Entrez gene summary

 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

Chromosome

 4

Cytoband

 p16.1

Chromosome location (bp)

 6716055 - 6717671

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000186222 (version 83.38)

Entrez gene

 55330

UniProt

 Q9NUP1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NUP1

Antibodypedia

 BLOC1S4 antibodies

PROTEIN BROWSER
BLOC1S4-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BLOC1S4-001
ENSP00000318128
ENST00000320776
Q9NUP1 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 4
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Predicted intracellular proteins
Plasma proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0008089 [anterograde axon cargo transport]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032438 [melanosome organization]
GO:0046907 [intracellular transport]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0050885 [neuromuscular process controlling balance]
GO:0061024 [membrane organization]
GO:0070527 [platelet aggregation]
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 217 aa
23.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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