Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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-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. 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

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
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124796-MONOMER.

Names & Taxonomyi

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
Gene namesi
Name:BLOC1S5
Synonyms:MUTED
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:18561. BLOC1S5.

Subcellular locationi

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • BLOC-1 complex Source: UniProtKB
  • transport vesicle Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi63915.
OpenTargetsiENSG00000188428.
PharmGKBiPA134921692.

Polymorphism and mutation databases

BioMutaiBLOC1S5.
DMDMi34582369.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000966512 – 187Biogenesis of lysosome-related organelles complex 1 subunit 5Add BLAST186

Amino acid modifications

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

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8TDH9.
MaxQBiQ8TDH9.
PaxDbiQ8TDH9.
PeptideAtlasiQ8TDH9.
PRIDEiQ8TDH9.

PTM databases

iPTMnetiQ8TDH9.
PhosphoSitePlusiQ8TDH9.

Expressioni

Gene expression databases

BgeeiENSG00000188428.
ExpressionAtlasiQ8TDH9. baseline and differential.
GenevisibleiQ8TDH9. HS.

Organism-specific databases

HPAiCAB025613.

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BLOC1S2Q6QNY12EBI-465861,EBI-465872
BLOC1S6Q9UL452EBI-465861,EBI-465781
DTNBP1Q96EV83EBI-465861,EBI-465804
TSNAXQ995983EBI-465861,EBI-742638

Protein-protein interaction databases

BioGridi121986. 15 interactors.
IntActiQ8TDH9. 10 interactors.
STRINGi9606.ENSP00000380598.

Structurei

3D structure databases

ProteinModelPortaliQ8TDH9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili154 – 186Sequence analysisAdd BLAST33

Sequence similaritiesi

Belongs to the BLOC1S5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiIPR017243. Bloc1s5.
[Graphical view]
PANTHERiPTHR31784. PTHR31784. 1 hit.
PfamiPF14942. Muted. 1 hit.
[Graphical view]
PIRSFiPIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Sequence cautioni

The sequence AAH32438 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI20106 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI21645 differs from that shown. Reason: Erroneous gene model prediction.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
EMBLi
GenBanki
DDBJi
Links Updated
AF426434 mRNA. Translation: AAL99385.1.
AK301142 mRNA. Translation: BAG62734.1.
CR749569 mRNA. Translation: CAH18364.1.
AL096800, AL023694 Genomic DNA. Translation: CAI20106.1. Sequence problems.
AL023694, AL096800 Genomic DNA. Translation: CAI21645.1. Sequence problems.
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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.
AL096800, AL023694 Genomic DNA. Translation: CAI20106.1. Sequence problems.
AL023694, AL096800 Genomic DNA. Translation: CAI21645.1. Sequence problems.
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.
IntActiQ8TDH9. 10 interactors.
STRINGi9606.ENSP00000380598.

PTM databases

iPTMnetiQ8TDH9.
PhosphoSitePlusiQ8TDH9.

Polymorphism and mutation databases

BioMutaiBLOC1S5.
DMDMi34582369.

Proteomic databases

EPDiQ8TDH9.
MaxQBiQ8TDH9.
PaxDbiQ8TDH9.
PeptideAtlasiQ8TDH9.
PRIDEiQ8TDH9.

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

CTDi63915.
DisGeNETi63915.
GeneCardsiBLOC1S5.
HGNCiHGNC:18561. BLOC1S5.
HPAiCAB025613.
MIMi607289. gene.
neXtProtiNX_Q8TDH9.
OpenTargetsiENSG00000188428.
PharmGKBiPA134921692.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124796-MONOMER.

Miscellaneous databases

GeneWikiiMUTED.
GenomeRNAii63915.
PROiQ8TDH9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188428.
ExpressionAtlasiQ8TDH9. baseline and differential.
GenevisibleiQ8TDH9. HS.

Family and domain databases

InterProiIPR017243. Bloc1s5.
[Graphical view]
PANTHERiPTHR31784. PTHR31784. 1 hit.
PfamiPF14942. Muted. 1 hit.
[Graphical view]
PIRSFiPIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiBL1S5_HUMAN
AccessioniPrimary (citable) accession number: Q8TDH9
Secondary accession number(s): B4DVM2
, Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: June 1, 2002
Last modified: November 30, 2016
This is version 119 of the entry and version 1 of the sequence. [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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.