BLOC1S4 Gene
protein-coding GIFtS: 47
GCID: GC04P006718
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biogenesis of lysosomal organelles complex-1, subunit 4,...(Previous name: cappuccino homolog (mouse) ) (Previous symbol: CNO)
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Aliases for BLOC1S4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Biogenesis Of Lysosomal Organelles Complex-1, Subunit 4, Cappuccino1 2 | | FLJ112301 | | CNO1 2 3 5 | | Cappuccino Homolog (Mouse)1 | | BCAS4L1 2 | | Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 42 | | Protein Cappuccino Homolog2 3 | | Cappuccino Homolog2 | | BLOC-1 Subunit 42 3 | | |
Export aliases for BLOC1S4 gene to outside databases |
Summaries for BLOC1S4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for BLOC1S4: This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes,platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termedbiogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. Theencoded protein may play a role in intracellular vesicular trafficking. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: BL1S4_HUMAN, Q9NUP1Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-relatedorganelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery intoneurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicle trafficking Gene Wiki entry for BLOC1S4 (CNO)
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Genomic Views for BLOC1S4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_006051.18
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for BLOC1S4 Other transcription factors
Search SABiosciences Chromatin IP Primers for BLOC1S4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLOC1S4 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4p16.1 Ensembl cytogenetic band: 4p16.1 HGNC cytogenetic band: 4p16.1BLOC1S4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P006718: view genomic region
(about GC identifiers)
Start:
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6,717,842 bp from pter |
End:
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6,719,387 bp from pter |
Size:
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1,546 bases |
Orientation:
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plus strand |
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Proteins for BLOC1S4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: BL1S4_HUMAN, Q9NUP1 (See
protein sequence)Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 4 Size: 217 amino acids; 23351 Da
Subunit: Interacts with BLOC1S5 and BLOC1S6 (By similarity). Component of the biogenesis of lysosome-related organellescomplex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 andSNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: Q6NVY6 Q96G84Explore the universe of human proteins at neXtProt for BLOC1S4: NX_Q9NUP1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NUP1 BLOC1S4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060836.1 ENSEMBL proteins: ENSP00000318128 Reactome Protein details: Q9NUP1 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
BLOC1S4 for ontologies About GeneDecksing
BLOC1S4 Antibody Products: Assay Products for BLOC1S4: |
Protein
Domains / Families for BLOC1S4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BLOC1S4 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NUP1ProtoNet protein and cluster: Q9NUP1 UniProtKB/Swiss-Prot: BL1S4_HUMAN, Q9NUP1Similarity: Belongs to the BLOC1S4 family |
Function for BLOC1S4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: BL1S4_HUMAN, Q9NUP1Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-relatedorganelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery intoneurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicle trafficking
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for BLOC1S4 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BLOC1S4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLOC1S4  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S4 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- |
BLOC1S4 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for BLOC1S4: Animal Models: 10 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Bloc1s4):
BLOC1S4 for phenotypes About GeneDecksing
|
Pathways & Interactions for BLOC1S4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Clathrin derived vesicle budding | | | 2 | Membrane Trafficking | |
Pathway sources See GeneCards unified pathways Show all pathways
4
Reactome Pathways for BLOC1S4
BLOC1S4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BLOC1S4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)
 5/23 Interacting proteins for BLOC1S4 (Q9NUP11, 2, 3 ENSP000003181284) via UniProtKB, MINT, STRING, and/or I2D (see all 23)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006892 | post-Golgi vesicle-mediated transport |
TAS | -- | | GO:0008089 | anterograde axon cargo transport |
ISS | -- | | GO:0016044 | cellular membrane organization |
TAS | -- | | GO:0031175 | neuron projection development |
ISS | -- | | GO:0032438 | melanosome organization |
NAS | -- |
BLOC1S4 for ontologies About GeneDecksing
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Drugs & Compounds for BLOC1S4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for BLOC1S4 Search CenterWatch for drugs/clinical trials and news about BLOC1S4 / BL1S4 
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Transcripts for BLOC1S4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for BLOC1S4 gene: NM_018366.2 Unigene Cluster for BLOC1S4: Biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino Hs.7570 [show with all ESTs]Unigene Representative Sequence: NM_0183661 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000320776(uc003gjp.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for BLOC1S4 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BLOC1S4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLOC1S4  |
Additional cDNA sequence: AF085849.1 AK002092.1 BC001818.2 BC009890.2 BC067815.1 5 DOTS entries: DT.111572 DT.100663270 DT.100663286 DT.40236235 DT.100663285 24/104 AceView cDNA sequences (see all 104): BG479247 BM843183 AF085849 BM844808 BU849885 AL543436 BX104396 CR625701 BM760698 BQ020453 CR599774 CR626399 BC001818 BI833261 BQ061216 BM761699 AI679712 C01626 CR603319 BM916494 CR613059 NM_018366 AW294343 BF197408 GeneLoc Exon Structure
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Expression for BLOC1S4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| See probesets specificity/sensitivity at GeneAnnot CGAP TAG: --
See BLOC1S4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BLOC1S4
SOURCE GeneReport for Unigene cluster: Hs.7570 SABiosciences Custom PCR Arrays for BLOC1S4
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BLOC1S4 Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat BLOC1S4 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BLOC1S4 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BLOC1S4 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S4 |
Orthologs for BLOC1S4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BLOC1S4 gene from 5/15 species (see all 15) About this table
ENSEMBL Gene Tree for BLOC1S4 (if available) TreeFam Gene Tree for BLOC1S4 (if available)  |
Paralogs for BLOC1S4 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for BLOC1S4 gene
- BCAS42
1 SIMAP similar gene for BLOC1S4 using alignment to 1 protein entry: BL1S4_HUMAN:BCAS4
BLOC1S4 for paralogs About GeneDecksing
|
Genomic Variants for BLOC1S4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLOC1S4 |
|
Disorders
/ Diseases for BLOC1S4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BLOC1S4 for disorders About GeneDecksing
OMIM gene information: 605695
OMIM disorders: --
4 diseases for BLOC1S4: About MalaCardshermansky-pudlak syndrome breast carcinoma schizophrenia carcinoma Export disorders for BLOC1S4 gene to outside databases
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Publications for BLOC1S4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BLOC1S4 gene, integrated from 9 sources (see all 16): (articles sorted by number of sources associating them with BLOC1S4) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (PubMed id 12576321)1, 3 Ciciotte S.L....Peters L.L. (2003)
- Defects in the cappuccino (cno) gene on mouse chromos ome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mecha nism. (PubMed id 11110696)1, 3 Gwynn B....Peters L.L. (2000)
- Targeting protein-trafficking pathways alters melanoma treatment sensitivity. (PubMed id 22203954)1 Huang Z.M....Wei M.L. (2012)
- Assembly and architecture of biogenesis of lysosome-re lated organelles complex-1 (BLOC-1). (PubMed id 22203680)2 Lee H.H....Hurley J.H. (2012)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- BLOC-1 is required for cargo-specific sorting from va cuolar early endosomes toward lysosome-related organelles. (PubMed id 17182842)2 Setty S.R....Marks M.S. (2007)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome- related organelles complex-1 (BLOC-1). (PubMed id 15102850)1 Starcevic M. and Dell'Angelica E.C. (2004)
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External Searches for BLOC1S4 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BLOC1S4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BLOC1S4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BLOC1S4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for BLOC1S4 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for BLOC1S4 gene: Search GeneIP for patents involving BLOC1S4
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for BLOC1S4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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 | |
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| | | Search Tocris compounds for BLOC1S4 |
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 | | BLOC1S4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S4 |
|  |  |  | | | Search ThermoFisher Antibodies for BLOC1S4 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLOC1S4 |
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