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hps4.L HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog [ Xenopus laevis (African clawed frog) ]

Gene ID: 495486, updated on 4-Nov-2024

Summary

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Official Symbol
hps4.L
Official Full Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog
Primary source
Xenbase:XB-GENE-941401
Locus tag
XELAEV_18007501mg
See related
EnsemblRapid:ENSXLAG00005016535 AllianceGenome:Xenbase:XB-GENE-941401
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Xenopus laevis
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus
Also known as
hps4
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within positive regulation of compound eye pigmentation. Predicted to be located in cytoplasmic vesicle and lysosomal membrane. Predicted to be part of BLOC-3 complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See hps4.L in Genome Data Viewer
Location:
chromosome: 1L
Exon count:
16
Annotation release Status Assembly Chr Location
101 current Xenopus_laevis_v10.1 (GCF_017654675.1) 1L NC_054371.1 (160985928..161003525, complement)
100 previous assembly Xenopus_laevis_v2 (GCF_001663975.1) 1L NC_030724.1 (147893154..147910735, complement)

Chromosome 1L - NC_054371.1Genomic Context describing neighboring genes Neighboring gene aspartate beta-hydroxylase domain containing 2 L homeolog Neighboring gene uncharacterized XB5848002 L homeolog Neighboring gene SRR1 domain containing L homeolog Neighboring gene clustered mitochondria protein homolog

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene. Fukuzawa T. Genes Cells, 2021 Jan. PMID 33147376, Free PMC Article
  2. Genetic and genomic tools for Xenopus research: The NIH Xenopus initiative. Klein SL, et al. Dev Dyn, 2002 Dec. PMID 12454917
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by Xenbase

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within melanosome assembly IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of compound eye pigmentation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within protein targeting IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of BLOC-3 complex IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog
Names
Hermansky-Pudlak syndrome 4 L homeolog

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_001095131.1 → NP_001088600.1  HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog

    See identical proteins and their annotated locations for NP_001088600.1

    Status: PROVISIONAL

    Source sequence(s)
    BC085071
    UniProtKB/TrEMBL
    A0A7U3M1D5, Q5U4J4

RefSeqs of Annotated Genomes: Xenopus laevis Annotation Release 101 details...Open this link in a new tab

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

Reference Xenopus_laevis_v10.1 Primary Assembly

Genomic

  1. NC_054371.1 Reference Xenopus_laevis_v10.1 Primary Assembly

    Range
    160985928..161003525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_018248685.2 → XP_018104174.1  HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog isoform X1

    UniProtKB/TrEMBL
    A0A1L8I067, A0A7U3M1D5, A0A974E0U2

  2. XM_018248671.2 → XP_018104160.1  HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog isoform X1

    UniProtKB/TrEMBL
    A0A1L8I067, A0A7U3M1D5, A0A974E0U2

  3. XM_018248678.2 → XP_018104167.1  HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 L homeolog isoform X1

    UniProtKB/TrEMBL
    A0A1L8I067, A0A7U3M1D5, A0A974E0U2
    Related
    ENSXLAP00005048660.1, ENSXLAT00005049797.1
Nucleotide Protein Strain
Heading Accession and Version

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