Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Hps5provided by RGD
Official Full Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2provided by RGD
Primary source: RGD:1311916
See related: EnsemblRapid:ENSRNOG00000055531 AllianceGenome:RGD:1311916
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Aa2-028; Ab1-018
Summary: Predicted to be involved in developmental pigmentation. Predicted to act upstream of or within blood coagulation and pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2). [provided by Alliance of Genome Resources, Jan 2025]
Expression: Biased expression in Spleen (RPKM 102.7), Thymus (RPKM 64.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q22

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (106417902..106457220, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (97281626..97320945, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (102810114..102849430, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

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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Markers

RH134835 (e-PCR)
- UniSTS:218113

BF406831 (e-PCR)
- UniSTS:248394

BI293524 (e-PCR)
- UniSTS:245656

BF418212 (e-PCR)
- UniSTS:243394

Gene Ontology Provided by RGD

Process	Evidence Code	Pubs
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood coagulation	ISO Inferred from Sequence Orthology more info
involved_in developmental pigmentation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BLOC-2 complex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of high-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BLOC-2 complex member HPS5

Names: Hermansky-Pudlak syndrome 5

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_001135612.1 → NP_001129084.1 BLOC-2 complex member HPS5

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

F1LS35

Related

ENSRNOP00000075429.1, ENSRNOT00000086856.3

Conserved Domains (1) summary

sd00039
Location:37 → 75

7WD40; WD40 repeat [structural motif]