Expression of BLOC1S5 in cancer - Summary - The Human Protein Atlas

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BLOC1S5

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

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 category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Mixed

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in most tissues.

ANTIBODY IHC 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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PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (unfavourable).
Liver cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

CAB025613

Cancer	Cancer staining	Protein expression of normal tissue
Breast cancer
Carcinoid
Cervical cancer
Colorectal cancer
Endometrial cancer
Glioma
Head and neck cancer
Liver cancer
Lung cancer
Lymphoma

Cancer	Cancer staining	Protein expression of normal tissue
Melanoma
Ovarian cancer
Pancreatic cancer
Prostate cancer
Renal cancer
Skin cancer
Stomach cancer
Testis cancer
Thyroid cancer
Urothelial cancer

Staining summary	A majority of cancer tissues displayed moderate cytoplasmic immunoreactivity. Few cases of prostate cancers, melanomas and lymphomas were strongly stained.

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 Show all	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] Show all	187 aa 21.6 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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