MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT001616

Record overview

MITO ID	MT001616
Gene ID	282991
Species	Homo sapiens (Human)
Gene Name	biogenesis of lysosomal organelles complex-1, subunit 2
Gene Symbol	BLOC1S2
Synonyms	CEAP; BLOS2; CEAP11;
Alternate names	biogenesis of lysosome-related organelles complex 1 subunit 2; BLOC-1 subunit 2; centrosomal 10 kDa protein; centrosome protein oncogene; 11 kDa centrosome associated protein;
Chromosome	10
Map Location	10q24.31
Summary	This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Orthologs	View orthologs and multiple alignments for BLOC1S2

Proteins

biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1

Refseq ID:	NP_776170
Protein GI:	46852398
UniProt ID:	Q6QNY1
mRNA ID:	NM_173809
Length:	142
RefSeq Status:

biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
`MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDMFSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAG LQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR`

Refseq ID:	NP_001001342
Protein GI:	47717129
UniProt ID:	Q6QNY1
mRNA ID:	NM_001001342
Length:	99
RefSeq Status:

biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
`MFSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAGLQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR`

Refseq ID:	NP_001269367
Protein GI:	539848250
UniProt ID:	Q6QNY1
mRNA ID:	NM_001282438
Length:	99
RefSeq Status:

biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
Protein sequence is identical to GI:47717129 (mRNA isoform)

Refseq ID:	NP_001269366
Protein GI:	539848160
UniProt ID:	Q6QNY1
mRNA ID:	NM_001282437
Length:	99
RefSeq Status:

biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 3
Protein sequence is identical to GI:47717129 (mRNA isoform)

Refseq ID:	NP_001269365
Protein GI:	539848098
UniProt ID:
mRNA ID:	NM_001282436
Length:	95
RefSeq Status:

biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 4
`MRLPRKSLEVATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAGLQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR`

Refseq ID:	NP_001269368
Protein GI:	539848372
UniProt ID:
mRNA ID:	NM_001282439
Length:	141
RefSeq Status:

`MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDMFSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAG LQPYLDQINVIEEQVAALEQAAYKLDAYSKKLAKYKKLEKR`