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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 2

Gene

BLOC1S2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 (PubMed:15102850, PubMed:17182842). 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 (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).By similarity4 Publications

GO - Molecular functioni

  • gamma-tubulin binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 2
Short name:
BLOC-1 subunit 2
Alternative name(s):
Centrosome-associated protein
Gene namesi
Name:BLOC1S2
Synonyms:BLOS2, CEAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000196072.11
HGNCiHGNC:20984 BLOC1S2
MIMi609768 gene
neXtProtiNX_Q6QNY1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi282991
OpenTargetsiENSG00000196072
PharmGKBiPA134936108

Polymorphism and mutation databases

BioMutaiBLOC1S2
DMDMi74749300

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002345432 – 142Biogenesis of lysosome-related organelles complex 1 subunit 2Add BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ6QNY1
MaxQBiQ6QNY1
PaxDbiQ6QNY1
PeptideAtlasiQ6QNY1
PRIDEiQ6QNY1
ProteomicsDBi67307
67308 [Q6QNY1-2]
TopDownProteomicsiQ6QNY1-1 [Q6QNY1-1]
Q6QNY1-2 [Q6QNY1-2]

PTM databases

iPTMnetiQ6QNY1
PhosphoSitePlusiQ6QNY1

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000196072 Expressed in 202 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_BLOC1S2
ExpressionAtlasiQ6QNY1 baseline and differential
GenevisibleiQ6QNY1 HS

Organism-specific databases

HPAiHPA048088
HPA055010

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 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi129431, 38 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CPX-1912 BLOC1S2-SNAPN-DTBP1
CORUMiQ6QNY1
IntActiQ6QNY1, 36 interactors
MINTiQ6QNY1
STRINGi9606.ENSP00000359398

Structurei

3D structure databases

ProteinModelPortaliQ6QNY1
SMRiQ6QNY1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili79 – 127Sequence analysisAdd BLAST49

Sequence similaritiesi

Belongs to the BLOC1S2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4559 Eukaryota
ENOG4111XFP LUCA
GeneTreeiENSGT00390000005889
HOGENOMiHOG000111279
HOVERGENiHBG079627
InParanoidiQ6QNY1
KOiK16750
OMAiKYKDMRQ
OrthoDBiEOG091G0V5M
PhylomeDBiQ6QNY1
TreeFamiTF313861

Family and domain databases

InterProiView protein in InterPro
IPR019269 BLOC1_su2
PfamiView protein in Pfam
PF10046 BLOC1_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6QNY1-1) [UniParc]FASTAAdd to basket
Also known as: Ceap-16

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
MAAAAEGVLA TRSDEPARDD AAVETAEEAK EPAEADITEL CRDMFSKMAT
60 70 80 90 100
YLTGELTATS EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG
110 120 130 140
LQPYLDQINV IEEQVAALEQ AAYKLDAYSK KLEAKYKKLE KR
Length:142
Mass (Da):15,961
Last modified:July 5, 2004 - v1
Checksum:i023DDBAC66E1912B
GO
Isoform 2 (identifier: Q6QNY1-2) [UniParc]FASTAAdd to basket
Also known as: Ceap-11

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Show »
Length:99
Mass (Da):11,489
Checksum:i9F88B6AF46B7FCDA
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X1N6A0A087X1N6_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S2 hCG_19416
95Annotation score:
J3QRU7J3QRU7_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S2
117Annotation score:

Sequence cautioni

The sequence AAH20494 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05406813S → R. Corresponds to variant dbSNP:rs33965491Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0183501 – 43Missing in isoform 2. 1 PublicationAdd BLAST43

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.
CCDSiCCDS7490.1 [Q6QNY1-1]
RefSeqiNP_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]
UniGeneiHs.34906
Hs.715064

Genome annotation databases

EnsembliENST00000370372; ENSP00000359398; ENSG00000196072 [Q6QNY1-1]
ENST00000441611; ENSP00000410865; ENSG00000196072 [Q6QNY1-2]
ENST00000614731; ENSP00000481847; ENSG00000196072 [Q6QNY1-2]
GeneIDi282991
KEGGihsa:282991
UCSCiuc001kqv.4 human [Q6QNY1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
CCDSiCCDS7490.1 [Q6QNY1-1]
RefSeqiNP_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]
UniGeneiHs.34906
Hs.715064

3D structure databases

ProteinModelPortaliQ6QNY1
SMRiQ6QNY1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129431, 38 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CPX-1912 BLOC1S2-SNAPN-DTBP1
CORUMiQ6QNY1
IntActiQ6QNY1, 36 interactors
MINTiQ6QNY1
STRINGi9606.ENSP00000359398

PTM databases

iPTMnetiQ6QNY1
PhosphoSitePlusiQ6QNY1

Polymorphism and mutation databases

BioMutaiBLOC1S2
DMDMi74749300

Proteomic databases

EPDiQ6QNY1
MaxQBiQ6QNY1
PaxDbiQ6QNY1
PeptideAtlasiQ6QNY1
PRIDEiQ6QNY1
ProteomicsDBi67307
67308 [Q6QNY1-2]
TopDownProteomicsiQ6QNY1-1 [Q6QNY1-1]
Q6QNY1-2 [Q6QNY1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370372; ENSP00000359398; ENSG00000196072 [Q6QNY1-1]
ENST00000441611; ENSP00000410865; ENSG00000196072 [Q6QNY1-2]
ENST00000614731; ENSP00000481847; ENSG00000196072 [Q6QNY1-2]
GeneIDi282991
KEGGihsa:282991
UCSCiuc001kqv.4 human [Q6QNY1-1]

Organism-specific databases

CTDi282991
DisGeNETi282991
EuPathDBiHostDB:ENSG00000196072.11
GeneCardsiBLOC1S2
HGNCiHGNC:20984 BLOC1S2
HPAiHPA048088
HPA055010
MIMi609768 gene
neXtProtiNX_Q6QNY1
OpenTargetsiENSG00000196072
PharmGKBiPA134936108
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4559 Eukaryota
ENOG4111XFP LUCA
GeneTreeiENSGT00390000005889
HOGENOMiHOG000111279
HOVERGENiHBG079627
InParanoidiQ6QNY1
KOiK16750
OMAiKYKDMRQ
OrthoDBiEOG091G0V5M
PhylomeDBiQ6QNY1
TreeFamiTF313861

Miscellaneous databases

ChiTaRSiBLOC1S2 human
GeneWikiiBLOC1S2
GenomeRNAii282991
PROiPR:Q6QNY1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196072 Expressed in 202 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_BLOC1S2
ExpressionAtlasiQ6QNY1 baseline and differential
GenevisibleiQ6QNY1 HS

Family and domain databases

InterProiView protein in InterPro
IPR019269 BLOC1_su2
PfamiView protein in Pfam
PF10046 BLOC1_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBL1S2_HUMAN
AccessioniPrimary (citable) accession number: Q6QNY1
Secondary accession number(s): B4DQV2, Q5W040, Q8WUI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 131 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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