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P78537

- BL1S1_HUMAN

UniProt

P78537 - BL1S1_HUMAN

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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 1

Gene

BLOC1S1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 NDUFA9.2 Publications

GO - Biological processi

  1. aerobic respiration Source: UniProtKB
  2. anterograde axon cargo transport Source: UniProtKB
  3. anterograde synaptic vesicle transport Source: UniProtKB
  4. melanosome organization Source: UniProtKB
  5. membrane organization Source: Reactome
  6. neuron projection development Source: UniProtKB
  7. peptidyl-lysine acetylation Source: UniProtKB
  8. platelet dense granule organization Source: UniProtKB
  9. post-Golgi vesicle-mediated transport Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_19287. Lysosome Vesicle Biogenesis.
REACT_19400. Golgi Associated Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
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 namesi
Name:BLOC1S1
Synonyms:BLOS1, GCN5L1, RT14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:4200. BLOC1S1.

Subcellular locationi

Mitochondrion intermembrane space 1 Publication. Mitochondrion matrix 1 Publication. Cytoplasmcytosol 1 Publication

GO - Cellular componenti

  1. BLOC-1 complex Source: UniProtKB
  2. cytosol Source: UniProtKB
  3. extracellular space Source: UniProt
  4. extracellular vesicular exosome Source: UniProt
  5. lysosomal membrane Source: Reactome
  6. mitochondrial intermembrane space Source: UniProtKB
  7. mitochondrial matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28617.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 153153Biogenesis of lysosome-related organelles complex 1 subunit 1PRO_0000156331Add
BLAST

Proteomic databases

MaxQBiP78537.
PaxDbiP78537.
PRIDEiP78537.

PTM databases

PhosphoSiteiP78537.

Expressioni

Gene expression databases

BgeeiP78537.
CleanExiHS_BLOC1S1.
ExpressionAtlasiP78537. baseline.
GenevestigatoriP78537.

Organism-specific databases

HPAiHPA021381.

Interactioni

Subunit structurei

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.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ATP5A1P257052EBI-348630,EBI-351437
BLOC1S2Q6QNY13EBI-348630,EBI-465872
BLOC1S6Q9UL4510EBI-348630,EBI-465781
DTNBP1Q96EV83EBI-348630,EBI-465804
NDUFA9Q167953EBI-348630,EBI-1045087

Protein-protein interaction databases

BioGridi108917. 16 interactions.
IntActiP78537. 12 interactions.
MINTiMINT-1032542.
STRINGi9606.ENSP00000257899.

Structurei

3D structure databases

ProteinModelPortaliP78537.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili27 – 5933Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the BLOC1S1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG287367.
GeneTreeiENSGT00390000002689.
HOGENOMiHOG000005725.
HOVERGENiHBG050694.
InParanoidiP78537.
OMAiWARSIEM.
OrthoDBiEOG70ZZPM.
TreeFamiTF314443.

Family and domain databases

InterProiIPR009395. GCN5L1.
[Graphical view]
PfamiPF06320. GCN5L1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative initiation. Align

Isoform 1 (identifier: P78537-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK
60 70 80 90 100
RRREAITAAT CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK
110 120 130 140 150
QTGQWIGMVE NFNQALKEIG DVENWARSIE LDMRTIATAL EYVYKGQLQS

APS
Length:153
Mass (Da):17,263
Last modified:May 3, 2011 - v2
Checksum:iB7D1FE64F242B25A
GO
Isoform 2 (identifier: P78537-2) [UniParc]FASTAAdd to Basket

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).

Show »
Length:125
Mass (Da):14,311
Checksum:i68E3FA07A0A4ECED
GO

Sequence cautioni

The sequence AAB37682.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2828Missing in isoform 2. 2 PublicationsVSP_040954Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8889.2. [P78537-1]
PIRiJC4392.
RefSeqiNP_001478.2. NM_001487.3. [P78537-1]
UniGeneiHs.600940.
Hs.94672.

Genome annotation databases

EnsembliENST00000548925; ENSP00000447537; ENSG00000135441. [P78537-1]
GeneIDi2647.
KEGGihsa:2647.
UCSCiuc001shi.4. human. [P78537-1]

Polymorphism databases

DMDMi332278161.

Keywords - Coding sequence diversityi

Alternative initiation

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS8889.2. [P78537-1 ]
PIRi JC4392.
RefSeqi NP_001478.2. NM_001487.3. [P78537-1 ]
UniGenei Hs.600940.
Hs.94672.

3D structure databases

ProteinModelPortali P78537.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108917. 16 interactions.
IntActi P78537. 12 interactions.
MINTi MINT-1032542.
STRINGi 9606.ENSP00000257899.

PTM databases

PhosphoSitei P78537.

Polymorphism databases

DMDMi 332278161.

Proteomic databases

MaxQBi P78537.
PaxDbi P78537.
PRIDEi P78537.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000548925 ; ENSP00000447537 ; ENSG00000135441 . [P78537-1 ]
GeneIDi 2647.
KEGGi hsa:2647.
UCSCi uc001shi.4. human. [P78537-1 ]

Organism-specific databases

CTDi 2647.
GeneCardsi GC12P056109.
HGNCi HGNC:4200. BLOC1S1.
HPAi HPA021381.
MIMi 601444. gene.
neXtProti NX_P78537.
PharmGKBi PA28617.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287367.
GeneTreei ENSGT00390000002689.
HOGENOMi HOG000005725.
HOVERGENi HBG050694.
InParanoidi P78537.
OMAi WARSIEM.
OrthoDBi EOG70ZZPM.
TreeFami TF314443.

Enzyme and pathway databases

Reactomei REACT_19287. Lysosome Vesicle Biogenesis.
REACT_19400. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

ChiTaRSi BLOC1S1. human.
GeneWikii BLOC1S1.
GenomeRNAii 2647.
NextBioi 10446.
PROi P78537.
SOURCEi Search...

Gene expression databases

Bgeei P78537.
CleanExi HS_BLOC1S1.
ExpressionAtlasi P78537. baseline.
Genevestigatori P78537.

Family and domain databases

InterProi IPR009395. GCN5L1.
[Graphical view ]
Pfami PF06320. GCN5L1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiBL1S1_HUMAN
AccessioniPrimary (citable) accession number: P78537
Secondary accession number(s): A1L4Q9, Q6NZ45
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 3, 2011
Last modified: October 29, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3