UniProtKB - Q6QNY1 (BL1S2_HUMAN)
Biogenesis of lysosome-related organelles complex 1 subunit 2
BLOC1S2
Functioni
GO - Molecular functioni
- gamma-tubulin binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
GO - Biological processi
- anterograde axonal transport Source: UniProtKB
- anterograde synaptic vesicle transport Source: UniProtKB
- endosomal transport Source: GO_Central
- extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
- lysosome localization Source: UniProtKB
- melanosome organization Source: UniProtKB
- microtubule nucleation Source: UniProtKB
- mitochondrial outer membrane permeabilization Source: UniProtKB
- neuron projection development Source: UniProtKB
- platelet dense granule organization Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q6QNY1 |
Names & Taxonomyi
Protein namesi | Recommended name: Biogenesis of lysosome-related organelles complex 1 subunit 2Short name: BLOC-1 subunit 2 Alternative name(s): Centrosome-associated protein |
Gene namesi | Name:BLOC1S2 Synonyms:BLOS2, CEAP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000196072.11 |
HGNCi | HGNC:20984, BLOC1S2 |
MIMi | 609768, gene |
neXtProti | NX_Q6QNY1 |
Subcellular locationi
Cytoskeleton
- centrosome 1 Publication
Lysosome
- Lysosome membrane 1 Publication
Note: Localizes to the centrosomes in a microtubule-dependent manner.1 Publication
Cytoskeleton
- centrosome Source: UniProtKB
- gamma-tubulin complex Source: UniProtKB
Cytosol
- BLOC-1 complex Source: UniProtKB
- BORC complex Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB-SubCell
Mitochondrion
- mitochondrion Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- axon cytoplasm Source: GOC
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, Lysosome, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 282991 |
OpenTargetsi | ENSG00000196072 |
PharmGKBi | PA134936108 |
Miscellaneous databases
Pharosi | Q6QNY1, Tbio |
Polymorphism and mutation databases
BioMutai | BLOC1S2 |
DMDMi | 74749300 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000234543 | 2 – 142 | Biogenesis of lysosome-related organelles complex 1 subunit 2Add BLAST | 141 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q6QNY1 |
jPOSTi | Q6QNY1 |
MassIVEi | Q6QNY1 |
MaxQBi | Q6QNY1 |
PaxDbi | Q6QNY1 |
PeptideAtlasi | Q6QNY1 |
PRIDEi | Q6QNY1 |
ProteomicsDBi | 67307 [Q6QNY1-1] 67308 [Q6QNY1-2] |
TopDownProteomicsi | Q6QNY1-1 [Q6QNY1-1] Q6QNY1-2 [Q6QNY1-2] |
PTM databases
iPTMneti | Q6QNY1 |
PhosphoSitePlusi | Q6QNY1 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000196072, Expressed in anterior cingulate cortex and 215 other tissues |
ExpressionAtlasi | Q6QNY1, baseline and differential |
Genevisiblei | Q6QNY1, HS |
Organism-specific databases
HPAi | ENSG00000196072, Low tissue specificity |
Interactioni
Subunit structurei
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.
Interacts directly with BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN (PubMed:15102850, PubMed:22203680). The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos (By similarity).
Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167).
Interacts with gamma-tubulin (PubMed:15381421).
Interacts with IFT57 (By similarity).
By similarity4 PublicationsBinary interactionsi
Hide detailsQ6QNY1
GO - Molecular functioni
- gamma-tubulin binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 129431, 56 interactors |
ComplexPortali | CPX-1910, BLOC-1 complex CPX-5029, BORC complex |
CORUMi | Q6QNY1 |
IntActi | Q6QNY1, 52 interactors |
MINTi | Q6QNY1 |
STRINGi | 9606.ENSP00000359398 |
Miscellaneous databases
RNActi | Q6QNY1, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 79 – 127 | Sequence analysisAdd BLAST | 49 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4559, Eukaryota |
GeneTreei | ENSGT00390000005889 |
HOGENOMi | CLU_110820_2_1_1 |
InParanoidi | Q6QNY1 |
OMAi | KYKDMRQ |
PhylomeDBi | Q6QNY1 |
TreeFami | TF313861 |
Family and domain databases
InterProi | View protein in InterPro IPR019269, BLOC1_su2 |
PANTHERi | PTHR46479, PTHR46479, 1 hit |
Pfami | View protein in Pfam PF10046, BLOC1_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAAEGVLA TRSDEPARDD AAVETAEEAK EPAEADITEL CRDMFSKMAT
60 70 80 90 100
YLTGELTATS EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG
110 120 130 140
LQPYLDQINV IEEQVAALEQ AAYKLDAYSK KLEAKYKKLE KR
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X1N6 | A0A087X1N6_HUMAN | Biogenesis of lysosome-related orga... | BLOC1S2 hCG_19416 | 95 | Annotation score: | ||
J3QRU7 | J3QRU7_HUMAN | Biogenesis of lysosome-related orga... | BLOC1S2 | 117 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054068 | 13 | S → R. Corresponds to variant dbSNP:rs33965491Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_018350 | 1 – 43 | Missing in isoform 2. 1 PublicationAdd BLAST | 43 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY531265 mRNA Translation: AAT00461.1 AY278457 mRNA Translation: AAQ19606.1 AK298969 mRNA Translation: BAG61064.1 AL138921 Genomic DNA No translation available. AL139819 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49836.1 BC020494 mRNA Translation: AAH20494.1 Different initiation. |
CCDSi | CCDS7490.1 [Q6QNY1-1] |
RefSeqi | NP_001001342.1, NM_001001342.2 [Q6QNY1-2] NP_001269366.1, NM_001282437.1 [Q6QNY1-2] NP_001269367.1, NM_001282438.1 [Q6QNY1-2] NP_776170.2, NM_173809.4 [Q6QNY1-1] |
Genome annotation databases
Ensembli | ENST00000370372; ENSP00000359398; ENSG00000196072 [Q6QNY1-1] ENST00000441611; ENSP00000410865; ENSG00000196072 [Q6QNY1-2] ENST00000614731; ENSP00000481847; ENSG00000196072 [Q6QNY1-2] |
GeneIDi | 282991 |
KEGGi | hsa:282991 |
UCSCi | uc001kqv.4, human [Q6QNY1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY531265 mRNA Translation: AAT00461.1 AY278457 mRNA Translation: AAQ19606.1 AK298969 mRNA Translation: BAG61064.1 AL138921 Genomic DNA No translation available. AL139819 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49836.1 BC020494 mRNA Translation: AAH20494.1 Different initiation. |
CCDSi | CCDS7490.1 [Q6QNY1-1] |
RefSeqi | NP_001001342.1, NM_001001342.2 [Q6QNY1-2] NP_001269366.1, NM_001282437.1 [Q6QNY1-2] NP_001269367.1, NM_001282438.1 [Q6QNY1-2] NP_776170.2, NM_173809.4 [Q6QNY1-1] |
3D structure databases
SMRi | Q6QNY1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 129431, 56 interactors |
ComplexPortali | CPX-1910, BLOC-1 complex CPX-5029, BORC complex |
CORUMi | Q6QNY1 |
IntActi | Q6QNY1, 52 interactors |
MINTi | Q6QNY1 |
STRINGi | 9606.ENSP00000359398 |
PTM databases
iPTMneti | Q6QNY1 |
PhosphoSitePlusi | Q6QNY1 |
Polymorphism and mutation databases
BioMutai | BLOC1S2 |
DMDMi | 74749300 |
Proteomic databases
EPDi | Q6QNY1 |
jPOSTi | Q6QNY1 |
MassIVEi | Q6QNY1 |
MaxQBi | Q6QNY1 |
PaxDbi | Q6QNY1 |
PeptideAtlasi | Q6QNY1 |
PRIDEi | Q6QNY1 |
ProteomicsDBi | 67307 [Q6QNY1-1] 67308 [Q6QNY1-2] |
TopDownProteomicsi | Q6QNY1-1 [Q6QNY1-1] Q6QNY1-2 [Q6QNY1-2] |
Protocols and materials databases
Antibodypediai | 55739, 104 antibodies |
Genome annotation databases
Ensembli | ENST00000370372; ENSP00000359398; ENSG00000196072 [Q6QNY1-1] ENST00000441611; ENSP00000410865; ENSG00000196072 [Q6QNY1-2] ENST00000614731; ENSP00000481847; ENSG00000196072 [Q6QNY1-2] |
GeneIDi | 282991 |
KEGGi | hsa:282991 |
UCSCi | uc001kqv.4, human [Q6QNY1-1] |
Organism-specific databases
CTDi | 282991 |
DisGeNETi | 282991 |
EuPathDBi | HostDB:ENSG00000196072.11 |
GeneCardsi | BLOC1S2 |
HGNCi | HGNC:20984, BLOC1S2 |
HPAi | ENSG00000196072, Low tissue specificity |
MIMi | 609768, gene |
neXtProti | NX_Q6QNY1 |
OpenTargetsi | ENSG00000196072 |
PharmGKBi | PA134936108 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4559, Eukaryota |
GeneTreei | ENSGT00390000005889 |
HOGENOMi | CLU_110820_2_1_1 |
InParanoidi | Q6QNY1 |
OMAi | KYKDMRQ |
PhylomeDBi | Q6QNY1 |
TreeFami | TF313861 |
Enzyme and pathway databases
PathwayCommonsi | Q6QNY1 |
Miscellaneous databases
BioGRID-ORCSi | 282991, 11 hits in 849 CRISPR screens |
ChiTaRSi | BLOC1S2, human |
GeneWikii | BLOC1S2 |
GenomeRNAii | 282991 |
Pharosi | Q6QNY1, Tbio |
PROi | PR:Q6QNY1 |
RNActi | Q6QNY1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196072, Expressed in anterior cingulate cortex and 215 other tissues |
ExpressionAtlasi | Q6QNY1, baseline and differential |
Genevisiblei | Q6QNY1, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019269, BLOC1_su2 |
PANTHERi | PTHR46479, PTHR46479, 1 hit |
Pfami | View protein in Pfam PF10046, BLOC1_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BL1S2_HUMAN | |
Accessioni | Q6QNY1Primary (citable) accession number: Q6QNY1 Secondary accession number(s): B4DQV2, Q5W040, Q8WUI8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | July 5, 2004 | |
Last modified: | December 2, 2020 | |
This is version 145 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations