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UniProtKB - Q8TDH9 (BL1S5_HUMAN)

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 5

Gene

BLOC1S5

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. 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. Plays a role in intracellular vesicle trafficking.1 Publication

<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 - Biological processi

View the complete GO annotation on QuickGO ...

<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_and_taxonomy_section">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 5
Short name:
BLOC-1 subunit 5
Alternative name(s):
Protein Muted homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:BLOC1S5
Synonyms:MUTED
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000188428.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:18561 BLOC1S5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607289 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TDH9

<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; Source: COMPARTMENTS

<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		63915

Open Targets

More...OpenTargetsi		ENSG00000188428

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134921692

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BLOC1S5

Domain mapping of disease mutations (DMDM)

More...DMDMi		34582369

<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_processing_section">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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000966512 – 187Biogenesis of lysosome-related organelles complex 1 subunit 5Add BLAST186

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-acetylserineCombined sources1

<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 - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8TDH9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TDH9

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

More...PaxDbi		Q8TDH9

PeptideAtlas

More...PeptideAtlasi		Q8TDH9

PRoteomics IDEntifications database

More...PRIDEi		Q8TDH9

ProteomicsDB human proteome resource

More...ProteomicsDBi		74287
74288 [Q8TDH9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TDH9

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

More...PhosphoSitePlusi		Q8TDH9

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000188428 Expressed in 211 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TDH9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TDH9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB025613

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BLOC1S4, DTNBP1/BLOC1S7 and PI4K2A (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 BLOC1S6.By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		121986, 15 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1910 BLOC-1 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8TDH9

Protein interaction database and analysis system

More...IntActi		Q8TDH9, 14 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000380598

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8TDH9

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 coili154 – 186Sequence analysisAdd BLAST33

<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 BLOC1S5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEDX Eukaryota
ENOG4111SZ9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000016974

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000290689

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG045594

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TDH9

KEGG Orthology (KO)

More...KOi		K20187

Identification of Orthologs from Complete Genome Data

More...OMAi		EQYSEME

Database of Orthologous Groups

More...OrthoDBi		EOG091G0QDK

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TDH9

TreeFam database of animal gene trees

More...TreeFami		TF332943

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017243 Bloc1s5

The PANTHER Classification System

More...PANTHERi		PTHR31784 PTHR31784, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14942 Muted, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037610 BLOC-1_complex_muted_subunit, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TDH9-1) [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
MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR 
        60         70         80         90        100
PVIQGETRYF VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD 
       110        120        130        140        150
SLSQVLQRLQ AANDSVCRLQ QREQERKKIH SDHLVASEKQ HMLQWDNFMK 
       160        170        180 
EQPNKRAEVD EEHRKAMERL KEQYAEMEKD LAKFSTF
Length:187
Mass (Da):21,609
Last modified:June 1, 2002 - 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:i790D4DE8E97D83D1
GO
Isoform 2 (identifier: Q8TDH9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-110: LQ → YS
     111-187: Missing.

Note: Gene prediction based on EST data. No experimental confirmation available.
Show »
Length:110
Mass (Da):12,305
Checksum:i3B1A7044492F2A1E
GO
Isoform 3 (identifier: Q8TDH9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFE → M

Note: No experimental confirmation available.
Show »
Length:123
Mass (Da):14,893
Checksum:iF6D7D10D6C28EEF7
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTN6A0A0A0MTN6_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S5
90Annotation 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>
G5E931G5E931_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S5 hCG_15560
114Annotation 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>
A0A0D9SEU2A0A0D9SEU2_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S5
68Annotation 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 AAH32438 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0450131 – 65MSGGG…VKEFE → M in isoform 3. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_015088109 – 110LQ → YS in isoform 2. Curated2
Alternative sequenceiVSP_015089111 – 187Missing in isoform 2. CuratedAdd BLAST77

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
AF426434 mRNA Translation: AAL99385.1
AK301142 mRNA Translation: BAG62734.1
CR749569 mRNA Translation: CAH18364.1
AL023694 Genomic DNA No translation available.
AL096800 Genomic DNA No translation available.
BC032438 mRNA Translation: AAH32438.1 Different initiation.
BC119644 mRNA Translation: AAI19645.1
BC119645 mRNA Translation: AAI19646.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4506.1 [Q8TDH9-1]

NCBI Reference Sequences

More...RefSeqi		NP_001186251.1, NM_001199322.1 [Q8TDH9-3]
NP_958437.1, NM_201280.2 [Q8TDH9-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.719272

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000397457; ENSP00000380598; ENSG00000188428 [Q8TDH9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		63915

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:63915

UCSC genome browser

More...UCSCi		uc003mxy.3 human [Q8TDH9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF426434 mRNA Translation: AAL99385.1
AK301142 mRNA Translation: BAG62734.1
CR749569 mRNA Translation: CAH18364.1
AL023694 Genomic DNA No translation available.
AL096800 Genomic DNA No translation available.
BC032438 mRNA Translation: AAH32438.1 Different initiation.
BC119644 mRNA Translation: AAI19645.1
BC119645 mRNA Translation: AAI19646.1
CCDSiCCDS4506.1 [Q8TDH9-1]
RefSeqiNP_001186251.1, NM_001199322.1 [Q8TDH9-3]
NP_958437.1, NM_201280.2 [Q8TDH9-1]
UniGeneiHs.719272

3D structure databases

ProteinModelPortaliQ8TDH9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121986, 15 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CORUMiQ8TDH9
IntActiQ8TDH9, 14 interactors
STRINGi9606.ENSP00000380598

PTM databases

iPTMnetiQ8TDH9
PhosphoSitePlusiQ8TDH9

Polymorphism and mutation databases

BioMutaiBLOC1S5
DMDMi34582369

Proteomic databases

EPDiQ8TDH9
MaxQBiQ8TDH9
PaxDbiQ8TDH9
PeptideAtlasiQ8TDH9
PRIDEiQ8TDH9
ProteomicsDBi74287
74288 [Q8TDH9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397457; ENSP00000380598; ENSG00000188428 [Q8TDH9-1]
GeneIDi63915
KEGGihsa:63915
UCSCiuc003mxy.3 human [Q8TDH9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		63915
DisGeNETi63915
EuPathDBiHostDB:ENSG00000188428.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		BLOC1S5
HGNCiHGNC:18561 BLOC1S5
HPAiCAB025613
MIMi607289 gene
neXtProtiNX_Q8TDH9
OpenTargetsiENSG00000188428
PharmGKBiPA134921692

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEDX Eukaryota
ENOG4111SZ9 LUCA
GeneTreeiENSGT00390000016974
HOGENOMiHOG000290689
HOVERGENiHBG045594
InParanoidiQ8TDH9
KOiK20187
OMAiEQYSEME
OrthoDBiEOG091G0QDK
PhylomeDBiQ8TDH9
TreeFamiTF332943

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MUTED

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

More...GenomeRNAii		63915

Protein Ontology

More...PROi		PR:Q8TDH9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000188428 Expressed in 211 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ8TDH9 baseline and differential
GenevisibleiQ8TDH9 HS

Family and domain databases

InterProiView protein in InterPro
IPR017243 Bloc1s5
PANTHERiPTHR31784 PTHR31784, 1 hit
PfamiView protein in Pfam
PF14942 Muted, 1 hit
PIRSFiPIRSF037610 BLOC-1_complex_muted_subunit, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiBL1S5_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: Q8TDH9
Secondary accession number(s): B4DVM2
, Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: June 1, 2002
Last modified: November 7, 2018
This is version 128 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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