UniProtKB - Q8TDH9 (BL1S5_HUMAN)
Biogenesis of lysosome-related organelles complex 1 subunit 5
BLOC1S5
Functioni
GO - Biological processi
- anterograde axonal transport Source: UniProtKB
- anterograde synaptic vesicle transport Source: UniProtKB
- endosome to melanosome transport Source: UniProtKB
- melanosome organization Source: UniProtKB
- melanosome transport Source: UniProtKB
- neuron projection development Source: UniProtKB
- positive regulation of pigment cell differentiation Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8TDH9 |
Names & Taxonomyi
Protein namesi | Recommended name: Biogenesis of lysosome-related organelles complex 1 subunit 5Short name: BLOC-1 subunit 5 Alternative name(s): Protein Muted homolog |
Gene namesi | Name:BLOC1S5 Synonyms:MUTED |
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:ENSG00000188428.17 |
HGNCi | HGNC:18561, BLOC1S5 |
MIMi | 607289, gene |
neXtProti | NX_Q8TDH9 |
Subcellular locationi
Cytosol
- BLOC-1 complex Source: UniProtKB
Other locations
- axon cytoplasm Source: GOC
- transport vesicle Source: UniProtKB
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 63915 |
OpenTargetsi | ENSG00000188428 |
PharmGKBi | PA134921692 |
Miscellaneous databases
Pharosi | Q8TDH9, Tbio |
Polymorphism and mutation databases
BioMutai | BLOC1S5 |
DMDMi | 34582369 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000096651 | 2 – 187 | Biogenesis of lysosome-related organelles complex 1 subunit 5Add BLAST | 186 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q8TDH9 |
jPOSTi | Q8TDH9 |
MassIVEi | Q8TDH9 |
MaxQBi | Q8TDH9 |
PaxDbi | Q8TDH9 |
PeptideAtlasi | Q8TDH9 |
PRIDEi | Q8TDH9 |
ProteomicsDBi | 58830 74287 [Q8TDH9-1] 74288 [Q8TDH9-2] |
PTM databases
iPTMneti | Q8TDH9 |
PhosphoSitePlusi | Q8TDH9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000188428, Expressed in amniotic fluid and 224 other tissues |
ExpressionAtlasi | Q8TDH9, baseline and differential |
Genevisiblei | Q8TDH9, HS |
Organism-specific databases
HPAi | ENSG00000188428, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
Hide detailsQ8TDH9
Protein-protein interaction databases
BioGRIDi | 121986, 23 interactors |
ComplexPortali | CPX-1910, BLOC-1 complex |
CORUMi | Q8TDH9 |
IntActi | Q8TDH9, 20 interactors |
STRINGi | 9606.ENSP00000380598 |
Miscellaneous databases
RNActi | Q8TDH9, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 154 – 186 | Sequence analysisAdd BLAST | 33 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502S2QH, Eukaryota |
GeneTreei | ENSGT00390000016974 |
InParanoidi | Q8TDH9 |
OMAi | IQWEDFM |
OrthoDBi | 1593497at2759 |
PhylomeDBi | Q8TDH9 |
TreeFami | TF332943 |
Family and domain databases
InterProi | View protein in InterPro IPR017243, Bloc1s5 |
PANTHERi | PTHR31784, PTHR31784, 1 hit |
Pfami | View protein in Pfam PF14942, Muted, 1 hit |
PIRSFi | PIRSF037610, BLOC-1_complex_muted_subunit, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 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
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MTN6 | A0A0A0MTN6_HUMAN | Biogenesis of lysosome-related orga... | BLOC1S5 | 90 | Annotation score: | ||
G5E931 | G5E931_HUMAN | Biogenesis of lysosome-related orga... | BLOC1S5 hCG_15560 | 114 | Annotation score: | ||
A0A0D9SEU2 | A0A0D9SEU2_HUMAN | Biogenesis of lysosome-related orga... | BLOC1S5 | 68 | Annotation score: |
Sequence cautioni
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045013 | 1 – 65 | MSGGG…VKEFE → M in isoform 3. 1 PublicationAdd BLAST | 65 | |
Alternative sequenceiVSP_015088 | 109 – 110 | LQ → YS in isoform 2. Curated | 2 | |
Alternative sequenceiVSP_015089 | 111 – 187 | Missing in isoform 2. CuratedAdd BLAST | 77 |
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 |
CCDSi | CCDS4506.1 [Q8TDH9-1] |
RefSeqi | NP_001186251.1, NM_001199322.1 [Q8TDH9-3] NP_958437.1, NM_201280.2 [Q8TDH9-1] |
Genome annotation databases
Ensembli | ENST00000397457; ENSP00000380598; ENSG00000188428 [Q8TDH9-1] |
GeneIDi | 63915 |
KEGGi | hsa:63915 |
UCSCi | uc003mxy.3, human [Q8TDH9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS4506.1 [Q8TDH9-1] |
RefSeqi | NP_001186251.1, NM_001199322.1 [Q8TDH9-3] NP_958437.1, NM_201280.2 [Q8TDH9-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121986, 23 interactors |
ComplexPortali | CPX-1910, BLOC-1 complex |
CORUMi | Q8TDH9 |
IntActi | Q8TDH9, 20 interactors |
STRINGi | 9606.ENSP00000380598 |
PTM databases
iPTMneti | Q8TDH9 |
PhosphoSitePlusi | Q8TDH9 |
Polymorphism and mutation databases
BioMutai | BLOC1S5 |
DMDMi | 34582369 |
Proteomic databases
EPDi | Q8TDH9 |
jPOSTi | Q8TDH9 |
MassIVEi | Q8TDH9 |
MaxQBi | Q8TDH9 |
PaxDbi | Q8TDH9 |
PeptideAtlasi | Q8TDH9 |
PRIDEi | Q8TDH9 |
ProteomicsDBi | 58830 74287 [Q8TDH9-1] 74288 [Q8TDH9-2] |
Protocols and materials databases
Antibodypediai | 34994, 115 antibodies |
Genome annotation databases
Ensembli | ENST00000397457; ENSP00000380598; ENSG00000188428 [Q8TDH9-1] |
GeneIDi | 63915 |
KEGGi | hsa:63915 |
UCSCi | uc003mxy.3, human [Q8TDH9-1] |
Organism-specific databases
CTDi | 63915 |
DisGeNETi | 63915 |
EuPathDBi | HostDB:ENSG00000188428.17 |
GeneCardsi | BLOC1S5 |
HGNCi | HGNC:18561, BLOC1S5 |
HPAi | ENSG00000188428, Low tissue specificity |
MIMi | 607289, gene |
neXtProti | NX_Q8TDH9 |
OpenTargetsi | ENSG00000188428 |
PharmGKBi | PA134921692 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S2QH, Eukaryota |
GeneTreei | ENSGT00390000016974 |
InParanoidi | Q8TDH9 |
OMAi | IQWEDFM |
OrthoDBi | 1593497at2759 |
PhylomeDBi | Q8TDH9 |
TreeFami | TF332943 |
Enzyme and pathway databases
PathwayCommonsi | Q8TDH9 |
Miscellaneous databases
BioGRID-ORCSi | 63915, 2 hits in 843 CRISPR screens |
GeneWikii | MUTED |
GenomeRNAii | 63915 |
Pharosi | Q8TDH9, Tbio |
PROi | PR:Q8TDH9 |
RNActi | Q8TDH9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000188428, Expressed in amniotic fluid and 224 other tissues |
ExpressionAtlasi | Q8TDH9, baseline and differential |
Genevisiblei | Q8TDH9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017243, Bloc1s5 |
PANTHERi | PTHR31784, PTHR31784, 1 hit |
Pfami | View protein in Pfam PF14942, Muted, 1 hit |
PIRSFi | PIRSF037610, BLOC-1_complex_muted_subunit, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BL1S5_HUMAN | |
Accessioni | Q8TDH9Primary (citable) accession number: Q8TDH9 Secondary accession number(s): B4DVM2 Q9NU16 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 9, 2003 |
Last sequence update: | June 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 142 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 chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families