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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 4

Gene

BLOC1S4

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

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 4
Short name:
BLOC-1 subunit 4
Alternative name(s):
Protein cappuccino homolog
Gene namesi
Name:BLOC1S4
Synonyms:CNO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000186222.4
HGNCiHGNC:24206 BLOC1S4
MIMi605695 gene
neXtProtiNX_Q9NUP1

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

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi55330
OpenTargetsiENSG00000186222
PharmGKBiPA142672088

Polymorphism and mutation databases

BioMutaiBLOC1S4
DMDMi34395560

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000899751 – 217Biogenesis of lysosome-related organelles complex 1 subunit 4Add BLAST217

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei165PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NUP1
MaxQBiQ9NUP1
PaxDbiQ9NUP1
PeptideAtlasiQ9NUP1
PRIDEiQ9NUP1

PTM databases

iPTMnetiQ9NUP1
PhosphoSitePlusiQ9NUP1

Expressioni

Gene expression databases

BgeeiENSG00000186222
CleanExiHS_CNO
GenevisibleiQ9NUP1 HS

Organism-specific databases

HPAiHPA043840

Interactioni

Subunit structurei

Interacts with BLOC1S5 and BLOC1S6 (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.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BLOC1S6Q9UL455EBI-465852,EBI-465781

Protein-protein interaction databases

BioGridi120611, 12 interactors
CORUMiQ9NUP1
IntActiQ9NUP1, 7 interactors
MINTiQ9NUP1
STRINGi9606.ENSP00000318128

Structurei

3D structure databases

ProteinModelPortaliQ9NUP1
SMRiQ9NUP1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili136 – 165Sequence analysisAdd BLAST30

Sequence similaritiesi

Belongs to the BLOC1S4 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IWCU Eukaryota
ENOG4111T9K LUCA
GeneTreeiENSGT00390000006790
HOGENOMiHOG000276542
HOVERGENiHBG039408
InParanoidiQ9NUP1
KOiK08366
OMAiEINPLCT
OrthoDBiEOG091G0YEV
PhylomeDBiQ9NUP1
TreeFamiTF326629

Family and domain databases

InterProiView protein in InterPro
IPR024857 Cappuccino
PANTHERiPTHR16230 PTHR16230, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NUP1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEGSFSDGGA LPEGLAEEAE PQGAAWSGDS GTVSQSHSSA SGPWEDEGAE
60 70 80 90 100
DGAPGRDLPL LRRAAAGYAA CLLPGAGARP EVEALDASLE DLLTRVDEFV
110 120 130 140 150
GMLDMLRGDS SHVVSEGVPR IHAKAAEMRR IYSRIDRLEA FVRMVGGRVA
160 170 180 190 200
RMEEQVTKAE AELGTFPRAF KKLLHTMNVP SLFSKSAPSR PQQAGYEAPV
210
LFRTEDYFPC CSERPQL
Length:217
Mass (Da):23,351
Last modified:October 1, 2000 - v1
Checksum:i46CFA7105DAF1071
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti61L → H in AAH67815 (PubMed:15815621).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK002092 mRNA Translation: BAA92080.1
AC093323 Genomic DNA No translation available.
BC067815 mRNA Translation: AAH67815.1
BC001818 mRNA No translation available.
BC009890 mRNA No translation available.
CCDSiCCDS3393.1
RefSeqiNP_060836.1, NM_018366.2
UniGeneiHs.7570

Genome annotation databases

EnsembliENST00000320776; ENSP00000318128; ENSG00000186222
GeneIDi55330
KEGGihsa:55330
UCSCiuc003gjp.2 human

Similar proteinsi

Entry informationi

Entry nameiBL1S4_HUMAN
AccessioniPrimary (citable) accession number: Q9NUP1
Secondary accession number(s): Q6NVY6, Q96G84
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: October 1, 2000
Last modified: February 28, 2018
This is version 116 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
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Main funding by: National Institutes of Health