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

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: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (6716174..6717664)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (6691231..6692721)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (6717901..6719391)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Melanoma cells depleted of cappuccino protein have increased nuclear localization of cis-diaminedichloroplatinum II, increased nuclear DNA damage by platination, and increased apoptosis, resulting in increased treatment sensitivity.
Title: Targeting protein-trafficking pathways alters melanoma treatment sensitivity.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67821 (e-PCR)
- UniSTS:2850

SHGC-32908 (e-PCR)
- UniSTS:5351

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

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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.