Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BLOC1S4 Gene

Aliases for BLOC1S4 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 4 2 3 5
  • Protein Cappuccino Homolog 3 4
  • BLOC-1 Subunit 4 3 4
  • CNO 3 4
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 4, Cappuccino 3
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 4 3
  • Cappuccino Homolog (Mouse) 2
  • Cappuccino Homolog 3
  • BCAS4L 3
  • BLOS4 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) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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

Additional gene information for BLOC1S4 Gene

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

Genomics for BLOC1S4 Gene

GeneHancer (GH) Regulatory Elements for BLOC1S4 Gene

Promoters and enhancers for BLOC1S4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I006715 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.7 701 3.3 HDGF MLX ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 BLOC1S4 GC04M006718 LOC93622 GC04P006621
GH04I006687 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 36.2 -23.3 -23342 9.9 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B S100P ENSG00000279859 LINC002481 BLOC1S4 EVC2 LOC93622 LINC02482 GC04P006638 GC04P006634 GC04P006621
GH04I006672 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 26.5 -41.5 -41546 3.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 LINC02482 LOC93622 BLOC1S4 MRFAP1L1 KIAA0232 S100P LINC002481 GC04P006638 GC04P006634 GC04P006621
GH04I006639 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.4 -74.7 -74684 3.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B MRFAP1 GC04P006648 PIR59900 BLOC1S4 LINC02482 LOC93622 GC04P006638 GC04P006633 GC04P006634 GC04P006621
GH04I007066 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15 +351.7 351698 3.3 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF207 ZNF143 GRPEL1 BLOC1S4 LOC105374368
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BLOC1S4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BLOC1S4 Gene

Genomic Locations for BLOC1S4 Gene
chr4:6,716,055-6,717,671
(GRCh38/hg38)
Size:
1,617 bases
Orientation:
Plus strand
chr4:6,717,842-6,719,387
(GRCh37/hg19)

Genomic View for BLOC1S4 Gene

Genes around BLOC1S4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for BLOC1S4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLOC1S4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BLOC1S4 Gene

Domains & Families for BLOC1S4 Gene

Gene Families for BLOC1S4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BLOC1S4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLOC1S4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NUP1

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for BLOC1S4 Gene

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BLOC1S4 Gene

Localization for BLOC1S4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S4 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLOC1S4 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

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 IEA,IDA 22203680
GO:1904115 axon cytoplasm IEA --
genes like me logo Genes that share ontologies with BLOC1S4: view

Pathways & Interactions 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:0008089 anterograde axonal transport ISS,IEA --
GO:0031175 neuron projection development ISS --
GO:0032438 melanosome organization IEA,NAS 22203680
GO:0046907 intracellular transport IBA --
GO:0048490 anterograde synaptic vesicle transport IEA,ISS --
genes like me logo Genes that share ontologies with BLOC1S4: view

No data available for SIGNOR curated interactions for BLOC1S4 Gene

Drugs & Compounds for BLOC1S4 Gene

No Compound Related Data Available

Transcripts for BLOC1S4 Gene

mRNA/cDNA for BLOC1S4 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(104) Selected AceView cDNA sequences:
(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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BLOC1S4 Gene

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BLOC1S4 Gene



Protein tissue co-expression partners for BLOC1S4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BLOC1S4 Gene:

BLOC1S4

SOURCE GeneReport for Unigene cluster for BLOC1S4 Gene:

Hs.7570
genes like me logo Genes that share expression patterns with BLOC1S4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CNO 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia BLOC1S4 33 34
  • 84.91 (n)
cow
(Bos Taurus)
Mammalia CNO 33 34
  • 84.55 (n)
mouse
(Mus musculus)
Mammalia Bloc1s4 33 16 34
  • 82.75 (n)
rat
(Rattus norvegicus)
Mammalia Bloc1s4 33
  • 80.9 (n)
oppossum
(Monodelphis domestica)
Mammalia BLOC1S4 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S4 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNO 33
  • 65.05 (n)
BLOC1S4 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLOC1S4 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s4 33
  • 54.58 (n)
zebrafish
(Danio rerio)
Actinopterygii bloc1s4 33 34
  • 56.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for BLOC1S4 was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs1000477244 -- 6,715,103(+) C/T upstream_transcript_variant
rs1001527974 -- 6,716,079(+) G/A upstream_transcript_variant
rs1003029427 -- 6,714,859(+) G/C upstream_transcript_variant
rs1003497961 -- 6,716,159(+) G/T 5_prime_UTR_variant
rs1003524854 -- 6,718,136(+) G/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S4 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER inversion 12058347

Variation tolerance for BLOC1S4 Gene

Gene Damage Index Score: 1.23; 24.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLOC1S4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLOC1S4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S4 Gene

Disorders for BLOC1S4 Gene

Additional Disease Information for BLOC1S4

No disorders were found for BLOC1S4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BLOC1S4 Gene

Publications for BLOC1S4 Gene

  1. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee HH … Hurley JH (The Journal of biological chemistry 2012) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. 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 SL … Peters LL (Blood 2003) 2 3 58
  5. 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 LL (Blood 2000) 2 3 58

Products for BLOC1S4 Gene

Sources for BLOC1S4 Gene

Content
Loading form....