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

Gene ID: 55330, updated on 8-Jul-2021

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
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
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Genomic context

See BLOC1S4 in Genome Data Viewer
Location:
4p16.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (6716174..6717664)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6717901..6719391)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378240 Neighboring gene Morf4 family associated protein 1 like 1 Neighboring gene Sharpr-MPRA regulatory region 12223 Neighboring gene uncharacterized LOC105374367

Genomic regions, transcripts, and products

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
part_of BLOC-1 complex IDA
Inferred from Direct Assay
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)

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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
    Q9NUP1
    Related
    ENSP00000318128.3, ENST00000320776.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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