P78537 (BL1S1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 1
Short name=BLOC-1 subunit 1

Alternative name(s):
GCN5-like protein 1
Protein RT14

Gene names

Name:	BLOC1S1
Synonyms:	BLOS1, GCN5L1, RT14

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	153 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5A1 and NDUFA9. Ref.6 Ref.8
Subunit structure	Interacts with KXD1 By similarity. Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with ATP5A1 and NDUFA9; involved in their acetylation on lysine residues. Ref.5 Ref.8 Ref.9
Subcellular location	Mitochondrion intermembrane space. Mitochondrion matrix. Cytoplasm › cytosol Ref.8.
Sequence similarities	Belongs to the BLOC1S1 family.
Sequence caution	The sequence AAB37682.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cytoplasm Mitochondrion
Coding sequence diversity	Alternative initiation
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	aerobic respiration Inferred from mutant phenotype Ref.8. Source: UniProtKB anterograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB anterograde synaptic vesicle transport Inferred from sequence or structural similarity. Source: UniProtKB cellular membrane organization Traceable author statement. Source: Reactome melanosome organization Non-traceable author statement Ref.5Ref.9. Source: UniProtKB neuron projection development Inferred from sequence or structural similarity. Source: UniProtKB peptidyl-lysine acetylation Inferred from mutant phenotype Ref.8. Source: UniProtKB platelet dense granule organization Non-traceable author statement Ref.5. Source: UniProtKB post-Golgi vesicle-mediated transport Traceable author statement. Source: Reactome
Cellular_component	BLOC-1 complex Inferred from direct assay Ref.5Ref.9. Source: UniProtKB lysosomal membrane Traceable author statement. Source: Reactome mitochondrial intermembrane space Inferred from direct assay Ref.8. Source: UniProtKB mitochondrial matrix Inferred from direct assay Ref.8. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ATP5A1	P25705	2	EBI-348630,EBI-351437
BLOC1S2	Q6QNY1	3	EBI-348630,EBI-465872
BLOC1S6	Q9UL45	10	EBI-348630,EBI-465781
DTNBP1	Q96EV8	3	EBI-348630,EBI-465804
NDUFA9	Q16795	3	EBI-348630,EBI-1045087

Alternative products

This entry describes 2 isoforms produced by alternative initiation. [Align] [Select]

Isoform 1 (identifier: P78537-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P78537-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Note: May be produced by alternative initiation at Met-27 of isoform 1. A polymorphism at position 9 leads to the creation of a stop codon. Isoform 2 is the the only form that exists in orthologs (except primates).

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 153	153	Biogenesis of lysosome-related organelles complex 1 subunit 1		PRO_0000156331
Regions
	Coiled coil	27 – 59	33	Potential
Natural variations
	Alternative sequence	1 – 28	28	Missing in isoform 2.		VSP_040954

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 3, 2011. Version 2. Checksum: B7D1FE64F242B25A	FASTA	153	17,263
	10 20 30 40 50 60 MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK RRREAITAAT 70 80 90 100 110 120 CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK QTGQWIGMVE NFNQALKEIG 130 140 150 DVENWARSIE LDMRTIATAL EYVYKGQLQS APS
	Isoform 2 [UniParc]. Checksum: 68E3FA07A0A4ECED	FASTA	125	14,311
	10 20 30 40 50 60 MLSRLLKEHQ AKQNERKELQ EKRRREAITA ATCLTEALVD HLNVGVAQAY MNQRKLDHEV 70 80 90 100 110 120 KTLQVQAAQF AKQTGQWIGM VENFNQALKE IGDVENWARS IELDMRTIAT ALEYVYKGQL QSAPS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode." Watanabe T.K., Fujiwara T., Shinomiya H., Kuga Y., Hishigaki H., Nakamura Y., Hirai Y. DNA Res. 2:235-237(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Fetal brain.
[2]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator." Inoue M., Isomura M., Ikegawa S., Fujiwara T., Shin S., Moriya H., Nakamura Y. Cytogenet. Cell Genet. 73:134-136(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 11-153 (ISOFORM 1).
[5]	"Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)." Starcevic M., Dell'Angelica E.C. J. Biol. Chem. 279:28393-28401(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX.
[6]	"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles." Setty S.R., Tenza D., Truschel S.T., Chou E., Sviderskaya E.V., Theos A.C., Lamoreux M.L., Di Pietro S.M., Starcevic M., Bennett D.C., Dell'Angelica E.C., Raposo G., Marks M.S. Mol. Biol. Cell 18:768-780(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]	"Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1." Scott I., Webster B.R., Li J.H., Sack M.N. Biochem. J. 443:655-661(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN MITOCHONDRIAL PROTEIN ACETYLATION, FUNCTION IN AEROBIC RESPIRATION, SUBCELLULAR LOCATION, INTERACTION WITH ATP5A1 AND NDUFA9.
[9]	"Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)." Lee H.H., Nemecek D., Schindler C., Smith W.J., Ghirlando R., Steven A.C., Bonifacino J.S., Hurley J.H. J. Biol. Chem. 287:5882-5890(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, COMPOSITION OF THE BLOC-1 COMPLEX.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D64007 mRNA. Translation: BAA10887.1. AC009779 Genomic DNA. No translation available. BC130640 mRNA. Translation: AAI30641.1. BC132795 mRNA. Translation: AAI32796.1. S82447 mRNA. Translation: AAB37682.1. Different initiation.
IPI	IPI00020319. IPI01015745.
PIR	JC4392.
RefSeq	NP_001478.2. NM_001487.3.
UniGene	Hs.732037. Hs.94672.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P78537. 12 interactions.
MINT	MINT-1032542.
STRING	9606.ENSP00000257899.
PTM databases
PhosphoSite	P78537.
Proteomic databases
PaxDb	P78537.
PRIDE	P78537.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257899; ENSP00000257899; ENSG00000135441. ENST00000548925; ENSP00000447537; ENSG00000135441.
GeneID	2647.
KEGG	hsa:2647.
UCSC	uc001shi.3. human.
Organism-specific databases
CTD	2647.
GeneCards	GC12P056109.
HGNC	HGNC:4200. BLOC1S1.
HPA	HPA021381.
MIM	601444. gene.
neXtProt	NX_P78537.
PharmGKB	PA28617.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG287367.
HOGENOM	HOG000005725.
HOVERGEN	HBG050694.
InParanoid	P78537.
OMA	MDMRTIA.
OrthoDB	EOG44TP9C.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
ArrayExpress	P78537.
Bgee	P78537.
CleanEx	HS_BLOC1S1.
Genevestigator	P78537.
GermOnline	ENSG00000135441. Homo sapiens.
Family and domain databases
InterPro	IPR009395. GCN5L1. [Graphical view]
Pfam	PF06320. GCN5L1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	BLOC1S1. human.
GenomeRNAi	2647.
NextBio	10446.
SOURCE	Search...

Entry information

Entry name

BL1S1_HUMAN

Accession

Primary (citable) accession number: P78537
Secondary accession number(s): A1L4Q9, Q6NZ45

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	May 3, 2011
Last modified:	April 3, 2013
This is version 96 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.