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    BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 [ Homo sapiens (human) ]

    Gene ID: 55330, updated on 27-Nov-2024

    Summary

    Official Symbol
    BLOC1S4provided by HGNC
    Official Full Name
    biogenesis of lysosomal organelles complex 1 subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:24206
    See related
    Ensembl:ENSG00000186222 MIM:605695; AllianceGenome:HGNC:24206
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNO; BLOS4; BCAS4L
    Summary
    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]
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BLOC1S4 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6716174..6717664)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6691231..6692721)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6717901..6719391)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6710044-6711243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21261 Neighboring gene uncharacterized LOC105378240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:6718303-6718942 Neighboring gene Morf4 family associated protein 1 like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6728408-6728987 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:6733860-6735059 Neighboring gene Sharpr-MPRA regulatory region 12223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6749910-6750687 Neighboring gene uncharacterized LOC105374367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6765388-6765903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15238 Neighboring gene KIAA0232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15239

    Genomic regions, transcripts, and products

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11230

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in melanosome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BLOC-1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    biogenesis of lysosome-related organelles complex 1 subunit 4
    Names
    BLOC-1 subunit 4
    biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
    cappuccino homolog
    protein cappuccino homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018366.3NP_060836.1  biogenesis of lysosome-related organelles complex 1 subunit 4

      See identical proteins and their annotated locations for NP_060836.1

      Status: REVIEWED

      Source sequence(s)
      AC093323, AI679712, AK002092, BC001818
      Consensus CDS
      CCDS3393.1
      UniProtKB/Swiss-Prot
      Q6NVY6, Q96G84, Q9NUP1
      Related
      ENSP00000318128.3, ENST00000320776.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      6716174..6717664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      6691231..6692721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)