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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 4

Gene

BLOC1S4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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

Complete GO annotation...

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

HGNCiHGNC:24206. BLOC1S4.

Subcellular locationi

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • BLOC-1 complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672088.

Polymorphism and mutation databases

BioMutaiBLOC1S4.
DMDMi34395560.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 217217Biogenesis of lysosome-related organelles complex 1 subunit 4PRO_0000089975Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei165 – 1651PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NUP1.
MaxQBiQ9NUP1.
PaxDbiQ9NUP1.
PeptideAtlasiQ9NUP1.
PRIDEiQ9NUP1.

PTM databases

iPTMnetiQ9NUP1.
PhosphoSiteiQ9NUP1.

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. 9 interactions.
IntActiQ9NUP1. 7 interactions.
MINTiMINT-8247510.
STRINGi9606.ENSP00000318128.

Structurei

3D structure databases

ProteinModelPortaliQ9NUP1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili136 – 16530Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the BLOC1S4 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiIPR024857. Cappuccino.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti61 – 611L → H in AAH67815 (PubMed:15815621).Curated

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NUP1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120611. 9 interactions.
IntActiQ9NUP1. 7 interactions.
MINTiMINT-8247510.
STRINGi9606.ENSP00000318128.

PTM databases

iPTMnetiQ9NUP1.
PhosphoSiteiQ9NUP1.

Polymorphism and mutation databases

BioMutaiBLOC1S4.
DMDMi34395560.

Proteomic databases

EPDiQ9NUP1.
MaxQBiQ9NUP1.
PaxDbiQ9NUP1.
PeptideAtlasiQ9NUP1.
PRIDEiQ9NUP1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55330.
GeneCardsiBLOC1S4.
HGNCiHGNC:24206. BLOC1S4.
HPAiHPA043840.
MIMi605695. gene.
neXtProtiNX_Q9NUP1.
PharmGKBiPA142672088.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GeneWikiiCNO_(gene).
GenomeRNAii55330.
PROiQ9NUP1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186222.
CleanExiHS_CNO.
GenevisibleiQ9NUP1. HS.

Family and domain databases

InterProiIPR024857. Cappuccino.
[Graphical view]
PANTHERiPTHR16230. PTHR16230. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiBL1S4_HUMAN
AccessioniPrimary (citable) accession number: Q9NUP1
Secondary accession number(s): Q6NVY6, Q96G84
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: October 1, 2000
Last modified: September 7, 2016
This is version 108 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 4
    Human chromosome 4: 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.