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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 5

Gene

BLOC1S5

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. 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

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

Organism-specific databases

EuPathDBiHostDB:ENSG00000188428.17
HGNCiHGNC:18561 BLOC1S5
MIMi607289 gene
neXtProtiNX_Q8TDH9

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

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
HPA077525

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

Show more details

Protein-protein interaction databases

BioGridi121986, 15 interactors
CORUMiQ8TDH9
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

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

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

Similar proteinsi

Entry informationi

Entry nameiBL1S5_HUMAN
AccessioniPrimary (citable) accession number: Q8TDH9
Secondary accession number(s): B4DVM2
, Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: June 1, 2002
Last modified: May 23, 2018
This is version 124 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. 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

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