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UniProtKB - Q6QNY1 (BL1S2_HUMAN)

Entry version 145 (02 Dec 2020)
Sequence version 1 (05 Jul 2004)
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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 2

Gene

BLOC1S2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6QNY1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BLOC1S2
Synonyms:BLOS2, CEAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000196072.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:20984, BLOC1S2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609768, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6QNY1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		282991

Open Targets

More...OpenTargetsi		ENSG00000196072

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134936108

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6QNY1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BLOC1S2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74749300

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002345432 – 142Biogenesis of lysosome-related organelles complex 1 subunit 2Add BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6QNY1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6QNY1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6QNY1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6QNY1

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6QNY1

PeptideAtlas

More...PeptideAtlasi		Q6QNY1

PRoteomics IDEntifications database

More...PRIDEi		Q6QNY1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67307 [Q6QNY1-1]
67308 [Q6QNY1-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q6QNY1-1 [Q6QNY1-1]
Q6QNY1-2 [Q6QNY1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6QNY1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6QNY1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196072, Expressed in anterior cingulate cortex and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6QNY1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6QNY1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000196072, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		129431, 56 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1910, BLOC-1 complex
CPX-5029, BORC complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q6QNY1

Protein interaction database and analysis system

More...IntActi		Q6QNY1, 52 interactors

Molecular INTeraction database

More...MINTi		Q6QNY1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359398

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6QNY1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6QNY1

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili79 – 127Sequence analysisAdd BLAST49

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the BLOC1S2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4559, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005889

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_110820_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6QNY1

Identification of Orthologs from Complete Genome Data

More...OMAi		KYKDMRQ

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6QNY1

TreeFam database of animal gene trees

More...TreeFami		TF313861

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019269, BLOC1_su2

The PANTHER Classification System

More...PANTHERi		PTHR46479, PTHR46479, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10046, BLOC1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRU7J3QRU7_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S2
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH20494 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05406813S → R. Corresponds to variant dbSNP:rs33965491Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0183501 – 43Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7490.1 [Q6QNY1-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000370372; ENSP00000359398; ENSG00000196072 [Q6QNY1-1]
ENST00000441611; ENSP00000410865; ENSG00000196072 [Q6QNY1-2]
ENST00000614731; ENSP00000481847; ENSG00000196072 [Q6QNY1-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		282991

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:282991

UCSC genome browser

More...UCSCi		uc001kqv.4, human [Q6QNY1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ6QNY1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi129431, 56 interactors
ComplexPortaliCPX-1910, BLOC-1 complex
CPX-5029, BORC complex
CORUMiQ6QNY1
IntActiQ6QNY1, 52 interactors
MINTiQ6QNY1
STRINGi9606.ENSP00000359398

PTM databases

iPTMnetiQ6QNY1
PhosphoSitePlusiQ6QNY1

Polymorphism and mutation databases

BioMutaiBLOC1S2
DMDMi74749300

Proteomic databases

EPDiQ6QNY1
jPOSTiQ6QNY1
MassIVEiQ6QNY1
MaxQBiQ6QNY1
PaxDbiQ6QNY1
PeptideAtlasiQ6QNY1
PRIDEiQ6QNY1
ProteomicsDBi67307 [Q6QNY1-1]
67308 [Q6QNY1-2]
TopDownProteomicsiQ6QNY1-1 [Q6QNY1-1]
Q6QNY1-2 [Q6QNY1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		55739, 104 antibodies

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

Comparative Toxicogenomics Database

More...CTDi		282991
DisGeNETi282991
EuPathDBiHostDB:ENSG00000196072.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		BLOC1S2
HGNCiHGNC:20984, BLOC1S2
HPAiENSG00000196072, Low tissue specificity
MIMi609768, gene
neXtProtiNX_Q6QNY1
OpenTargetsiENSG00000196072
PharmGKBiPA134936108

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4559, Eukaryota
GeneTreeiENSGT00390000005889
HOGENOMiCLU_110820_2_1_1
InParanoidiQ6QNY1
OMAiKYKDMRQ
PhylomeDBiQ6QNY1
TreeFamiTF313861

Enzyme and pathway databases

PathwayCommonsiQ6QNY1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		282991, 11 hits in 849 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		BLOC1S2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BLOC1S2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		282991
PharosiQ6QNY1, Tbio

Protein Ontology

More...PROi		PR:Q6QNY1
RNActiQ6QNY1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196072, Expressed in anterior cingulate cortex and 215 other tissues
ExpressionAtlasiQ6QNY1, baseline and differential
GenevisibleiQ6QNY1, HS

Family and domain databases

InterProiView protein in InterPro
IPR019269, BLOC1_su2
PANTHERiPTHR46479, PTHR46479, 1 hit
PfamiView protein in Pfam
PF10046, BLOC1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBL1S2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6QNY1
Secondary accession number(s): B4DQV2, Q5W040, Q8WUI8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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