hps3.L HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog [Xenopus laevis (African clawed frog)] - Gene

Summary

Official Symbol: hps3.L
Official Full Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog
Primary source: Xenbase:XB-GENE-866533
Locus tag: XELAEV_18027756mg
See related: EnsemblRapid:ENSXLAG00005016993 AllianceGenome:Xenbase:XB-GENE-866533
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: hps3
Summary: Predicted to be located in cytoplasm. Predicted to be part of BLOC-2 complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: chromosome: 5L

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
101	current	Xenopus_laevis_v10.1 (GCF_017654675.1)	5L	NC_054379.1 (130762107..130790039)
100	previous assembly	Xenopus_laevis_v2 (GCF_001663975.1)	5L	NC_030732.1 (120013576..120041036)

Chromosome 5L - NC_054379.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by Xenbase

Component	Evidence Code	Pubs
part_of BLOC-2 complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog

Names: Hermansky-Pudlak syndrome 3 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)

NM_001088947.1 → NP_001082416.1 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog

See identical proteins and their annotated locations for NP_001082416.1

Status: PROVISIONAL

Source sequence(s)

BC073354

UniProtKB/TrEMBL

A0A974HK18, Q6GNZ6

Related

ENSXLAP00005050042.1, ENSXLAT00005051183.1

Conserved Domains (3) summary

pfam14761
Location:3 → 211

HPS3_N; Hermansky-Pudlak syndrome 3

pfam14762
Location:255 → 636

HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region

pfam14763
Location:650 → 996

HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

RefSeqs of Annotated Genomes: Xenopus laevis Annotation Release 101 details...

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

Reference Xenopus_laevis_v10.1 Primary Assembly

Genomic

NC_054379.1 Reference Xenopus_laevis_v10.1 Primary Assembly

Range

130762107..130790039

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_041562106.1 → XP_041418040.1 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog isoform X1

UniProtKB/TrEMBL

A0A8J1KL53, A0A974HK18