Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Hps1provided by RGD
Official Full Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1provided by RGD
Primary source: RGD:69193
See related: EnsemblRapid:ENSRNOG00000045838 AllianceGenome:RGD:69193
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: Hps
Summary: Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in melanosome assembly. Predicted to act upstream of or within with a negative effect on gene expression. Predicted to act upstream of or within several processes, including intracellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be part of BLOC-3 complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 90.8), Thymus (RPKM 75.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q54

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (251500427..251526529, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (241551180..241577292, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (261989178..262015282, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

RH131943 (e-PCR)
- UniSTS:215226

RH130950 (e-PCR)
- UniSTS:214234

BI302053 (e-PCR)
- UniSTS:247527

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
contributes_to guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within blood coagulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within eye pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_negative_effect gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inflammatory response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intracellular zinc ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lysosome organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within melanocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in melanosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of natural killer cell activation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein secretion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within respiratory system process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina development in camera-type eye	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within secretion of lysosomal enzymes	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within single fertilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-3 complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: BLOC-3 complex member HPS1

Names: Hermansky-Pudlak syndrome 1 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)

NM_001433779.1 → NP_001420708.1 BLOC-3 complex member HPS1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A6JHC0, Q499V9, Q99MK7
NM_001433780.1 → NP_001420709.1 BLOC-3 complex member HPS1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A6JHC0, Q499V9, Q99MK7
NM_001433781.1 → NP_001420710.1 BLOC-3 complex member HPS1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A6JHC0, Q499V9, Q99MK7
NM_040669.2 → NP_414541.2 BLOC-3 complex member HPS1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A6JHC0, Q499V9, Q99MK7

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

251500427..251526529 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006231378.4 → XP_006231440.1 BLOC-3 complex member HPS1 isoform X1

Conserved Domains (3) summary

pfam19036
Location:2 → 159

Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1

pfam19037
Location:204 → 269

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:546 → 701

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
XM_006231380.5 → XP_006231442.1 BLOC-3 complex member HPS1 isoform X1

Related

ENSRNOP00000092869.2, ENSRNOT00000118777.2

Conserved Domains (3) summary

pfam19036
Location:2 → 159

Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1

pfam19037
Location:204 → 269

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:546 → 701

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
XM_006231381.4 → XP_006231443.1 BLOC-3 complex member HPS1 isoform X1

Conserved Domains (3) summary

pfam19036
Location:2 → 159

Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1

pfam19037
Location:204 → 269

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:546 → 701

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
XM_006231379.4 → XP_006231441.1 BLOC-3 complex member HPS1 isoform X1

Conserved Domains (3) summary

pfam19036
Location:2 → 159

Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1

pfam19037
Location:204 → 269

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:546 → 701

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
XM_039108545.2 → XP_038964473.1 BLOC-3 complex member HPS1 isoform X1

UniProtKB/TrEMBL

A6JHC0, Q499V9, Q99MK7

Conserved Domains (3) summary

pfam19036
Location:2 → 159

Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1

pfam19037
Location:204 → 269

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:546 → 701

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
XM_039108489.2 → XP_038964417.1 BLOC-3 complex member HPS1 isoform X1

UniProtKB/TrEMBL

A6JHC0, Q499V9, Q99MK7

Conserved Domains (3) summary

pfam19036
Location:2 → 159

Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1

pfam19037
Location:204 → 269

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:546 → 701

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
XM_039108590.1 → XP_038964518.1 BLOC-3 complex member HPS1 isoform X2

UniProtKB/TrEMBL

A0A0G2JXZ4

Conserved Domains (2) summary

pfam19037
Location:76 → 141

Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1

pfam19038
Location:418 → 573

Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1