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Aliases for BLOC1S4 Gene

Aliases for BLOC1S4 Gene

  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 4, Cappuccino 2 3
  • CNO 3 4 6
  • Protein Cappuccino Homolog 3 4
  • BLOC-1 Subunit 4 3 4
  • BLOS4 3 6
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 4 3
  • Cappuccino Homolog (Mouse) 2
  • Cappuccino Homolog 3
  • BCAS4L 3

External Ids for BLOC1S4 Gene

Previous HGNC Symbols for BLOC1S4 Gene

  • CNO

Summaries for BLOC1S4 Gene

Entrez Gene Summary for BLOC1S4 Gene

  • 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 termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

GeneCards Summary for BLOC1S4 Gene

BLOC1S4 (Biogenesis Of Lysosomal Organelles Complex-1, Subunit 4, Cappuccino) is a Protein Coding gene. Diseases associated with BLOC1S4 include hermansky-pudlak syndrome. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. An important paralog of this gene is BCAS4.

UniProtKB/Swiss-Prot for BLOC1S4 Gene

  • 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.

Gene Wiki entry for BLOC1S4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S4 Gene

Genomics for BLOC1S4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BLOC1S4 Gene

Start:
6,716,055 bp from pter
End:
6,717,671 bp from pter
Size:
1,617 bases
Orientation:
Plus strand

Genomic View for BLOC1S4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLOC1S4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S4 Gene

No data available for Regulatory Elements for BLOC1S4 Gene

Proteins for BLOC1S4 Gene

  • Protein details for BLOC1S4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUP1-BL1S4_HUMAN
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 4
    Protein Accession:
    Q9NUP1
    Secondary Accessions:
    • Q6NVY6
    • Q96G84

    Protein attributes for BLOC1S4 Gene

    Size:
    217 amino acids
    Molecular mass:
    23351 Da
    Quaternary structure:
    • 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.

neXtProt entry for BLOC1S4 Gene

Proteomics data for BLOC1S4 Gene at MOPED

Post-translational modifications for BLOC1S4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLOC1S4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for BLOC1S4 Gene

Domains for BLOC1S4 Gene

Gene Families for BLOC1S4 Gene

HGNC:
  • BLOC1S :Biogenesis of lysosomal organelles complex-1 subunits

Protein Domains for BLOC1S4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NUP1

UniProtKB/Swiss-Prot:

BL1S4_HUMAN :
  • Q9NUP1
Family:
  • Belongs to the BLOC1S4 family.
genes like me logo Genes that share domains with BLOC1S4: view

No data available for Suggested Antigen Peptide Sequences for BLOC1S4 Gene

Function for BLOC1S4 Gene

Molecular function for BLOC1S4 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for BLOC1S4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15102850
genes like me logo Genes that share ontologies with BLOC1S4: view
genes like me logo Genes that share phenotypes with BLOC1S4: view

Animal Model Products

miRNA for BLOC1S4 Gene

miRTarBase miRNAs that target BLOC1S4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLOC1S4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BLOC1S4 Gene

Localization for BLOC1S4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S4 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for BLOC1S4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0031083 BLOC-1 complex IDA 22203680
genes like me logo Genes that share ontologies with BLOC1S4: view

No data available for Subcellular locations from COMPARTMENTS for BLOC1S4 Gene

Pathways for BLOC1S4 Gene

genes like me logo Genes that share pathways with BLOC1S4: view

Gene Ontology (GO) - Biological Process for BLOC1S4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0008089 anterograde axon cargo transport ISS --
GO:0031175 neuron projection development ISS --
GO:0032438 melanosome organization NAS 22203680
GO:0048490 anterograde synaptic vesicle transport ISS --
genes like me logo Genes that share ontologies with BLOC1S4: view

Transcripts for BLOC1S4 Gene

mRNA/cDNA for BLOC1S4 Gene

(104) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BLOC1S4 Gene

Biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLOC1S4

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S4 Gene

No ASD Table

Relevant External Links for BLOC1S4 Gene

GeneLoc Exon Structure for
BLOC1S4
ECgene alternative splicing isoforms for
BLOC1S4

Expression for BLOC1S4 Gene

mRNA expression in normal human tissues for BLOC1S4 Gene

Protein differential expression in normal tissues for BLOC1S4 Gene

This gene is overexpressed in Skin (10.2), Uterus (8.8), CD8 Tcells (7.5), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLOC1S4 Gene

SOURCE GeneReport for Unigene cluster for BLOC1S4 Gene Hs.7570

genes like me logo Genes that share expressions with BLOC1S4: view

Expression partners for BLOC1S4 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BLOC1S4 Gene

Orthologs for BLOC1S4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLOC1S4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CNO 35
  • 84.55 (n)
  • 81.25 (a)
CNO 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLOC1S4 35
  • 84.91 (n)
  • 83.58 (a)
BLOC1S4 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bloc1s4 35
  • 82.75 (n)
  • 82.41 (a)
Bloc1s4 16
Bloc1s4 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNO 35
  • 99.69 (n)
  • 100 (a)
CNO 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bloc1s4 35
  • 80.9 (n)
  • 82.91 (a)
oppossum
(Monodelphis domestica)
Mammalia BLOC1S4 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S4 36
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNO 35
  • 65.05 (n)
  • 59.46 (a)
BLOC1S4 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLOC1S4 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s4 35
  • 54.58 (n)
  • 49.45 (a)
zebrafish
(Danio rerio)
Actinopterygii bloc1s4 35
  • 56.47 (n)
  • 53.01 (a)
bloc1s4 36
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for BLOC1S4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLOC1S4 Gene

ENSEMBL:
Gene Tree for BLOC1S4 (if available)
TreeFam:
Gene Tree for BLOC1S4 (if available)

Paralogs for BLOC1S4 Gene

Paralogs for BLOC1S4 Gene

Selected SIMAP similar genes for BLOC1S4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BLOC1S4: view

Variants for BLOC1S4 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs3172604 -- 6,717,048(+) TCCAA(G/T)TTTAA utr-variant-3-prime
rs3839180 -- 6,717,366(-) AAACT(-/GACT)ATTAG utr-variant-3-prime
rs6830445 -- 6,718,119(+) acagg(C/T)gtgag downstream-variant-500B
rs6834838 -- 6,715,122(+) ggtct(A/G)ggact upstream-variant-2KB
rs6834885 -- 6,715,204(+) gtggc(A/G)tgtgt upstream-variant-2KB

Relevant External Links for BLOC1S4 Gene

HapMap Linkage Disequilibrium report
BLOC1S4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BLOC1S4 Gene

Disorders for BLOC1S4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for BLOC1S4 Gene in MalaCards »

(1) Diseases for BLOC1S4 Gene including...

genes like me logo Genes that share disorders with BLOC1S4: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for BLOC1S4 Gene

Publications for BLOC1S4 Gene

  1. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. (PMID: 11110696) Gwynn B. … Peters L.L. (Blood 2000) 2 3
  2. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (PMID: 12576321) Ciciotte S.L. … Peters L.L. (Blood 2003) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee H.H. … Hurley J.H. (J. Biol. Chem. 2012) 3 4

Products for BLOC1S4 Gene

Sources for BLOC1S4 Gene

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