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MT000243

Record overview

MITO ID	MT000243
Gene ID	2647
Species	Homo sapiens (Human)
Gene Name	biogenesis of lysosomal organelles complex-1, subunit 1
Gene Symbol	BLOC1S1
Synonyms	RT14; BLOS1; MICoA; GCN5L1;
Alternate names	biogenesis of lysosome-related organelles complex 1 subunit 1; BLOC subunit 1; BLOC-1 subunit 1; GCN5-like protein 1; MTA1-interacting coactivator; GCN5 general control of amino-acid synthesis 5-like 1; GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1;
Chromosome	12
Map Location	12q13-q14
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]
Orthologs	View orthologs and multiple alignments for BLOC1S1

Proteins

biogenesis of lysosome-related organelles complex 1 subunit 1

Refseq ID:	NP_001478
Protein GI:	315113895
UniProt ID:	P78537
mRNA ID:	NM_001487
Length:	153
RefSeq Status:

`MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAK QTGQWIGMVENFNQALKEIGDVENWARSIELDMRTIATALEYVYKGQLQSAPS`