Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Hps6provided by RGD
Official Full Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3provided by RGD
Primary source: RGD:631341
See related: AllianceGenome:RGD:631341
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Hsp6
Summary: Predicted to enable GTP-dependent protein binding activity and small GTPase binding activity. Predicted to be involved in lysosome localization and protein localization to membrane. Predicted to act upstream of or within several processes, including blood coagulation; lipid homeostasis; and protein secretion. Predicted to be located in cytosol; early endosome membrane; and endoplasmic reticulum. Predicted to be part of BLOC-2 complex. Predicted to be active in lysosomal membrane. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 6. Orthologous to human HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: 1q54

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (254802250..254804859)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (244853256..244855865)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (265761818..265764427)

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

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 RGD

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	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 lipid homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in organelle organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info
involved_in protein localization to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein secretion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BLOC-2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-2 complex	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: BLOC-2 complex member HPS6

Names: hermansky-Pudlak syndrome 6 protein homolog; ru; ruby-eye protein homolog; ruby-eye-like protein

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_181432.2 → NP_852097.1 BLOC-2 complex member HPS6

See identical proteins and their annotated locations for NP_852097.1

Status: PROVISIONAL

Source sequence(s)

BC086975

UniProtKB/Swiss-Prot

Q7M733

UniProtKB/TrEMBL

A6JHK5

Conserved Domains (1) summary

pfam15702
Location:1 → 766

HPS6; Hermansky-Pudlak syndrome 6 protein