Format

Send to:

Choose Destination

Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 192236, updated on 23-Jun-2021

Summary

Official Symbol
Hps1provided by MGI
Official Full Name
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1provided by MGI
Primary source
MGI:MGI:2177763
See related
Ensembl:ENSMUSG00000025188
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ep; Hps; Gm21361; BB405864; 6030422N11Rik
Expression
Ubiquitous expression in adrenal adult (RPKM 15.3), ovary adult (RPKM 9.4) and 28 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Hps1 in Genome Data Viewer
Location:
19 C3; 19 36.56 cM
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (42743629..42770013, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (42755190..42780015, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (42829686..42854466, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25216 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene predicted gene, 19437 Neighboring gene predicted gene 16244 Neighboring gene heparanase 2 Neighboring gene high mobility group box 3 pseudogene Neighboring gene leucine zipper transcription factor-like 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC102063

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
acts_upstream_of_or_within blood coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular zinc ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within eye pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within_negative_effect gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inflammatory response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lung development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lung morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in melanosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in melanosome assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within organelle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of natural killer cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within respiratory system process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within secretion of lysosomal enzymes IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within single fertilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
part_of BLOC-3 complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
PubMed 

General protein information

Preferred Names
Hermansky-Pudlak syndrome 1 protein homolog
Names
Hermansky-Pudlak syndrome 1 homolog
Hermansky-Pudlak syndrome protein homolog
pale ear

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001346703.2NP_001333632.1  Hermansky-Pudlak syndrome 1 protein homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC125458
    Consensus CDS
    CCDS84439.1
    UniProtKB/TrEMBL
    Q3U309
    Related
    ENSMUSP00000125662.2, ENSMUST00000160455.8
  2. NM_001362410.1NP_001349339.1  Hermansky-Pudlak syndrome 1 protein homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC125458
    Consensus CDS
    CCDS89393.1
    Related
    ENSMUSP00000124209.2, ENSMUST00000162061.2
  3. NM_019424.3NP_062297.1  Hermansky-Pudlak syndrome 1 protein homolog isoform 1

    See identical proteins and their annotated locations for NP_062297.1

    Status: VALIDATED

    Source sequence(s)
    AC125458, BB843487, BC058332, BG062886, U97149
    Consensus CDS
    CCDS37992.1
    UniProtKB/Swiss-Prot
    O08983
    UniProtKB/TrEMBL
    A0A0R4J062
    Related
    ENSMUSP00000125226.2, ENSMUST00000162004.8

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    42743629..42770013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006526770.5XP_006526833.1  Hermansky-Pudlak syndrome 1 protein homolog isoform X1

    See identical proteins and their annotated locations for XP_006526833.1

    UniProtKB/TrEMBL
    Q3U309
  2. XM_030250777.2XP_030106637.1  Hermansky-Pudlak syndrome 1 protein homolog isoform X2

  3. XM_030250778.2XP_030106638.1  Hermansky-Pudlak syndrome 1 protein homolog isoform X4

  4. XM_036161466.1XP_036017359.1  Hermansky-Pudlak syndrome 1 protein homolog isoform X3

    Related
    ENSMUSP00000071069.7, ENSMUST00000069298.13
    Conserved Domains (3) summary
    pfam19036
    Location:2159
    Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
    pfam19037
    Location:204249
    Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
    pfam19038
    Location:552596
    Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
  5. XM_006526774.5XP_006526837.1  Hermansky-Pudlak syndrome 1 protein homolog isoform X4

    See identical proteins and their annotated locations for XP_006526837.1

    UniProtKB/TrEMBL
    E9PYL0
  6. XM_006526775.5XP_006526838.1  Hermansky-Pudlak syndrome 1 protein homolog isoform X5

RNA

  1. XR_386447.5 RNA Sequence

  2. XR_877667.4 RNA Sequence

  3. XR_386448.5 RNA Sequence

  4. XR_386449.5 RNA Sequence

  5. XR_001782561.3 RNA Sequence

Support Center