Expression of BLOC1S1 in cancer - Summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

BLOC1S1

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category

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

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in most tissues.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA021381
	SHOW MORE

PROGNOSTIC SUMMARY
Prognostic marker in ovarian cancer (favourable) and cervical cancer (favourable).
Ovarian cancer p<0.001 Cervical 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

HPA021381

GENE INFORMATION
Gene name	BLOC1S1 (HGNC Symbol)
Synonyms	BLOS1, BORCS1, 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 83.38)
Entrez gene	2647
UniProt	P78537 (UniProt - Evidence at protein level)
neXtProt	NX_P78537
Antibodypedia	BLOC1S1 antibodies

PROTEIN BROWSER

BLOC1S1-001	BLOC1S1-002	BLOC1S1-006	BLOC1S1-007	BLOC1S1-008

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BLOC1S1-001 ENSP00000447537 ENST00000548925	P78537 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 1 Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005615 [extracellular space] GO:0005758 [mitochondrial intermembrane space] GO:0005759 [mitochondrial matrix] GO:0005765 [lysosomal membrane] GO:0005829 [cytosol] GO:0006892 [post-Golgi vesicle-mediated transport] GO:0008089 [anterograde axon cargo transport] GO:0009060 [aerobic respiration] GO:0016197 [endosomal transport] GO:0018394 [peptidyl-lysine acetylation] GO:0031083 [BLOC-1 complex] GO:0031175 [neuron projection development] GO:0032438 [melanosome organization] GO:0048490 [anterograde synaptic vesicle transport] GO:0060155 [platelet dense granule organization] GO:0061024 [membrane organization] GO:0070062 [extracellular exosome] GO:0098779 [mitophagy in response to mitochondrial depolarization] Show all	153 aa 17.3 kDa	No	0
BLOC1S1-002 ENSP00000450328 ENST00000549147	F8VP73 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0031083 [BLOC-1 complex] Show all	142 aa 16 kDa	No	0
BLOC1S1-006 ENSP00000448605 ENST00000547076	G8JLQ3 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0031083 [BLOC-1 complex] Show all	75 aa 8.6 kDa	No	0
BLOC1S1-007 ENSP00000450218 ENST00000548556	G8JLQ3 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0031083 [BLOC-1 complex] Show all	75 aa 8.6 kDa	No	0
BLOC1S1-008 ENSP00000448171 ENST00000551926	F8W606 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0031083 [BLOC-1 complex] Show all	64 aa 7.3 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.