Hps1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1) - Rat Genome Database

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Gene: Hps1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1) Mus musculus
Analyze
Symbol: Hps1
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
RGD ID: 69205
MGI Page MGI
Description: Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Acts upstream of or within with a negative effect on gene expression. Acts 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. Used to study Hermansky-Pudlak syndrome 1 and platelet storage pool deficiency. 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 6030422N11Rik; BB405864; BLOC-3 complex member HPS1; ep; Gm21361; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 1 homolog; Hermansky-Pudlak syndrome 1 protein homolog; Hermansky-Pudlak syndrome protein homolog; Hps; MGC102063; pale ear; predicted gene, 21361
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391942,743,629 - 42,770,013 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1942,743,544 - 42,768,417 (-)EnsemblGRCm39 Ensembl
GRCm381942,755,190 - 42,780,015 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1942,755,105 - 42,779,978 (-)EnsemblGRCm38mm10GRCm38
MGSCv371942,829,686 - 42,854,466 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361942,806,145 - 42,831,956 (-)NCBIMGSCv36mm8
Celera1943,550,308 - 43,575,036 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.56NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. Ito S, etal., J Invest Dermatol. 2005 Oct;125(4):715-20.
2. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
3. MGDs mouse GO annotations MGD data from the GO Consortium
4. MGD IEA MGD IEA
5. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Oh J, etal., Nat Genet. 1996 Nov;14(3):300-6.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Mouse MP Annotation Import Pipeline RGD automated import pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:102659   PMID:115747   PMID:2369371   PMID:2379821   PMID:3516713   PMID:3922995   PMID:4436535   PMID:5297683   PMID:5713631   PMID:6031677   PMID:6232310   PMID:6696991  
PMID:6776948   PMID:6971254   PMID:7089489   PMID:7274657   PMID:7448413   PMID:7835879   PMID:8043950   PMID:8557335   PMID:9107690   PMID:9158155   PMID:9256409   PMID:9256466  
PMID:9714600   PMID:10193444   PMID:10349636   PMID:10441736   PMID:10922068   PMID:11041359   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11353395   PMID:11544199   PMID:11836498  
PMID:11861280   PMID:12445206   PMID:12466851   PMID:12477932   PMID:12663659   PMID:12777251   PMID:12847290   PMID:15702992   PMID:15743322   PMID:15782199   PMID:15790974   PMID:16141072  
PMID:16141073   PMID:16249233   PMID:16547274   PMID:16760431   PMID:17068483   PMID:17363777   PMID:18715234   PMID:19010779   PMID:19155314   PMID:20048159   PMID:21052544   PMID:21267068  
PMID:21677750   PMID:21873635   PMID:22905720   PMID:23043085   PMID:23174301   PMID:23364476   PMID:24361037   PMID:25160823   PMID:25375251   PMID:25917818   PMID:26121745   PMID:26719147  
PMID:27777976   PMID:27889498   PMID:29074498   PMID:29190429   PMID:29427412   PMID:30710063   PMID:30786955   PMID:31272455   PMID:32554809   PMID:33224134   PMID:33513603  


Genomics

Comparative Map Data
Hps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391942,743,629 - 42,770,013 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1942,743,544 - 42,768,417 (-)EnsemblGRCm39 Ensembl
GRCm381942,755,190 - 42,780,015 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1942,755,105 - 42,779,978 (-)EnsemblGRCm38mm10GRCm38
MGSCv371942,829,686 - 42,854,466 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361942,806,145 - 42,831,956 (-)NCBIMGSCv36mm8
Celera1943,550,308 - 43,575,036 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.56NCBI
HPS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381098,413,948 - 98,446,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1098,410,939 - 98,446,963 (-)EnsemblGRCh38hg38GRCh38
GRCh3710100,175,955 - 100,206,692 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610100,165,946 - 100,196,694 (-)NCBINCBI36Build 36hg18NCBI36
Celera1093,912,577 - 93,943,330 (-)NCBICelera
Cytogenetic Map10q24.2NCBI
HuRef1093,800,790 - 93,831,456 (-)NCBIHuRef
CHM1_110100,457,816 - 100,488,565 (-)NCBICHM1_1
T2T-CHM13v2.01099,296,171 - 99,326,913 (-)NCBIT2T-CHM13v2.0
Hps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21241,551,180 - 241,577,292 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1241,551,175 - 241,577,268 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1249,696,451 - 249,721,235 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01256,393,616 - 256,418,400 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01249,046,621 - 249,071,405 (-)NCBIRnor_WKY
Rnor_6.01261,989,178 - 262,015,282 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1261,989,178 - 262,015,153 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01269,441,344 - 269,467,562 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41248,109,643 - 248,134,450 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11248,224,231 - 248,249,039 (+)NCBI
Celera1237,383,206 - 237,407,908 (-)NCBICelera
Cytogenetic Map1q54NCBI
Hps1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555074,409,035 - 4,429,348 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555074,408,428 - 4,433,219 (-)NCBIChiLan1.0ChiLan1.0
HPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan110110,327,510 - 110,358,304 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01095,030,626 - 95,061,415 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11098,526,127 - 98,556,629 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1098,526,113 - 98,552,922 (-)Ensemblpanpan1.1panPan2
HPS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12811,547,457 - 11,572,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2811,547,741 - 11,571,613 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2811,730,977 - 11,755,779 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02811,874,100 - 11,898,877 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2811,874,114 - 11,895,578 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12811,557,831 - 11,582,599 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02811,594,730 - 11,619,480 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02811,734,462 - 11,759,221 (-)NCBIUU_Cfam_GSD_1.0
Hps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721335,368,475 - 35,391,569 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366361,410,589 - 1,430,124 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366361,407,666 - 1,430,683 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14109,730,598 - 109,751,985 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114109,730,597 - 109,755,288 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HPS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1991,575,408 - 91,606,514 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl991,576,600 - 91,604,972 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604852,478,171 - 52,509,267 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hps1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473710,007,777 - 10,041,100 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473710,008,807 - 10,042,928 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Hps1
1127 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2041
Count of miRNA genes:696
Interacting mature miRNAs:852
Transcripts:ENSMUST00000026194, ENSMUST00000069298, ENSMUST00000159974, ENSMUST00000160455, ENSMUST00000160621, ENSMUST00000161252, ENSMUST00000161761, ENSMUST00000162004, ENSMUST00000162061
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301228Iba4_minduction of brown adipocytes 4 (mouse)Not determined19930571543305821Mouse
1302019Pgia23_mproteoglycan induced arthritis 23 (mouse)Not determined19978745343787602Mouse
14928311Manh85_mmandible shape 85 (mouse)191191478945914789Mouse
10413881Moe2_mmodifier of epilepsy 2 (mouse)191492301648923138Mouse
1301336Alcp23_malcohol preference locus 23 (mouse)Not determined191591260749912719Mouse
1301633Alcp24_malcohol preference locus 24 (mouse)Not determined191591260749912719Mouse
1302063Eae19_mexperimental allergic encephalomyelitis 19 (mouse)Not determined191829516252295381Mouse
1302004Lfp2_mlong free running period 2 (mouse)Not determined191829516252295381Mouse
4142343Moen2_mmodifier of engrailed QTL 2 (mouse)Not determined192023431454234461Mouse
10412251Mnp_mmodifier of Niemann Pick type C1 (mouse)Not determined192023431454234461Mouse
4141659Pbwg20_mpostnatal body weight growth 20 (mouse)Not determined192137870555378928Mouse
1558876W3q14_mweight 3 weeks QTL 14 (mouse)Not determined192231332653911504Mouse
12790634Ebm1_mEpidermolysis Bullosa modifier 1 (mouse)192498843958988439Mouse
1301451Ath16_matherosclerosis 16 (mouse)Not determined192542691759427005Mouse
13506250Renmq1_mrenal mercury accumulation QTL 1 (mouse)192738559461385705Mouse
4141138Femwf11_mfemur work to failure 11 (mouse)Not determined2814034861420004Mouse
1300683Fembm7_mfemoral bone morphometry 7 (mouse)Not determined193014122461420004Mouse
1301942Pas13_mpulmonary adenoma susceptibility 13 (mouse)Not determined193014123161420004Mouse
1301410Cd8mts6_mCD8 memory T cell subset 6 (mouse)Not determined193014123161420004Mouse
1300856Nobq2_mNew Zealand obese QTL 2 (mouse)Not determined193089788061420004Mouse
1301741Lith2_mlithogenic gene 2 (mouse)Not determined193299215861420004Mouse
1301639Stnn_mstriatal neuron number (mouse)Not determined193395195261420004Mouse
4141019Tgq29_mtriglyceride QTL 29 (mouse)Not determined3459678661420004Mouse
1301479Sluc1_msusceptibility to lung cancer 1 (mouse)Not determined193601694446761521Mouse
1302170Tanidd1_mtally ho associated non-insulin dependednt diabetes mellitus 1 (mouse)Not determined193675259761420004Mouse
13504736Ifvrq6_minfluenza virus resistance QTL 6 (mouse)193690291044913949Mouse
4141650Chldq9_mcholesterol and HDL QTL 9 (mouse)Not determined193788298261420004Mouse
1301466T2dm2_mtype 2 diabetes mellitus 2 (mouse)Not determined193837605061420004Mouse
1302104Lfp1_mlong free running period 1 (mouse)Not determined193918406461420004Mouse
10043896Bw21_mbody weight QTL 21 (mouse)Not determined193959606661420004Mouse
1300585Pgia12_mproteoglycan induced arthritis 12 (mouse)Not determined194258685961420004Mouse

Markers in Region
BB405864  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381942,755,209 - 42,755,303UniSTSGRCm38
MGSCv371942,829,699 - 42,829,793UniSTSGRCm37
Celera1943,550,321 - 43,550,415UniSTS
Cytogenetic Map19C3UniSTS
cM Map1942.0UniSTS
Whitehead/MRC_RH19426.98UniSTS
px-30f4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4A5UniSTS
Cytogenetic Map12C3UniSTS
Cytogenetic Map3B-DUniSTS
Cytogenetic Map19C3UniSTS
Cytogenetic Map4C6UniSTS
cM Map1942.0UniSTS
px-58e10  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4A5UniSTS
Cytogenetic Map12C3UniSTS
Cytogenetic Map6G1UniSTS
Cytogenetic Map1E3-E4UniSTS
Cytogenetic Map3B-DUniSTS
Cytogenetic Map2F2UniSTS
Cytogenetic Map19C3UniSTS
Cytogenetic Map4C6UniSTS
cM Map1942.0UniSTS
cM Map275.0UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001346703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006526770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006526774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006526775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030250777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030250778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036161466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001782561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_386447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_386448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_386449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_877667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC125458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK031397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK053974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK154994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK171225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK177483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK181298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK181435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK181595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK183600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK205063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK207948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK209858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK211068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK212868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB843487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG062886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U97149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000026194   ⟹   ENSMUSP00000026194
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,743,635 - 42,767,086 (-)Ensembl
GRCm38.p6 Ensembl1942,755,196 - 42,778,647 (-)Ensembl
RefSeq Acc Id: ENSMUST00000069298   ⟹   ENSMUSP00000071069
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,746,520 - 42,768,404 (-)Ensembl
GRCm38.p6 Ensembl1942,758,081 - 42,779,965 (-)Ensembl
RefSeq Acc Id: ENSMUST00000159974
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,743,635 - 42,768,398 (-)Ensembl
GRCm38.p6 Ensembl1942,755,196 - 42,779,959 (-)Ensembl
RefSeq Acc Id: ENSMUST00000160455   ⟹   ENSMUSP00000125662
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,743,637 - 42,768,415 (-)Ensembl
GRCm38.p6 Ensembl1942,755,198 - 42,779,976 (-)Ensembl
RefSeq Acc Id: ENSMUST00000160621
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,748,804 - 42,752,315 (-)Ensembl
GRCm38.p6 Ensembl1942,760,365 - 42,763,876 (-)Ensembl
RefSeq Acc Id: ENSMUST00000161252   ⟹   ENSMUSP00000125483
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,744,022 - 42,746,268 (-)Ensembl
GRCm38.p6 Ensembl1942,755,583 - 42,757,829 (-)Ensembl
RefSeq Acc Id: ENSMUST00000161761
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,755,250 - 42,758,249 (-)Ensembl
GRCm38.p6 Ensembl1942,766,811 - 42,769,810 (-)Ensembl
RefSeq Acc Id: ENSMUST00000162004   ⟹   ENSMUSP00000125226
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,743,544 - 42,768,417 (-)Ensembl
GRCm38.p6 Ensembl1942,755,105 - 42,779,978 (-)Ensembl
RefSeq Acc Id: ENSMUST00000162061   ⟹   ENSMUSP00000124209
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1942,746,919 - 42,766,702 (-)Ensembl
GRCm38.p6 Ensembl1942,758,480 - 42,778,263 (-)Ensembl
RefSeq Acc Id: NM_001346703   ⟹   NP_001333632
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,629 - 42,768,417 (-)NCBI
GRCm381942,755,190 - 42,779,978 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362410   ⟹   NP_001349339
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,746,520 - 42,767,085 (-)NCBI
GRCm381942,758,081 - 42,778,646 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019424   ⟹   NP_062297
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,629 - 42,768,417 (-)NCBI
GRCm381942,755,190 - 42,779,978 (-)NCBI
MGSCv371942,829,686 - 42,854,466 (-)RGD
Celera1943,550,308 - 43,575,036 (-)RGD
cM Map19 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006526770   ⟹   XP_006526833
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,634 - 42,770,013 (-)NCBI
GRCm381942,755,195 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006526774   ⟹   XP_006526837
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,746,518 - 42,770,013 (-)NCBI
GRCm381942,758,079 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006526775   ⟹   XP_006526838
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,747,602 - 42,770,013 (-)NCBI
GRCm381942,759,201 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XM_030250777   ⟹   XP_030106637
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,635 - 42,770,013 (-)NCBI
GRCm381942,755,196 - 42,779,971 (-)NCBI
Sequence:
RefSeq Acc Id: XM_030250778   ⟹   XP_030106638
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,746,261 - 42,770,013 (-)NCBI
GRCm381942,757,822 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XM_036161466   ⟹   XP_036017359
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,746,261 - 42,770,013 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001782561
RefSeq Status:
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,634 - 42,770,013 (-)NCBI
GRCm381942,755,191 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XR_386447
RefSeq Status:
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,630 - 42,770,013 (-)NCBI
GRCm381942,755,191 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XR_386448
RefSeq Status:
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,630 - 42,770,013 (-)NCBI
GRCm381942,755,196 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XR_386449
RefSeq Status:
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,634 - 42,770,013 (-)NCBI
GRCm381942,755,195 - 42,780,015 (-)NCBI
Sequence:
RefSeq Acc Id: XR_877667
RefSeq Status:
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391942,743,630 - 42,770,013 (-)NCBI
GRCm381942,755,191 - 42,780,015 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_062297   ⟸   NM_019424
- Peptide Label: isoform 1
- UniProtKB: O08983 (UniProtKB/Swiss-Prot),   A0A0R4J062 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006526833   ⟸   XM_006526770
- Peptide Label: isoform X1
- UniProtKB: Q3U309 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006526837   ⟸   XM_006526774
- Peptide Label: isoform X4
- UniProtKB: E9PYL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006526838   ⟸   XM_006526775
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001333632   ⟸   NM_001346703
- Peptide Label: isoform 2
- UniProtKB: Q3U309 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_030106637   ⟸   XM_030250777
- Peptide Label: isoform X2
- UniProtKB: A0A0R4J062 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_030106638   ⟸   XM_030250778
- Peptide Label: isoform X4
- UniProtKB: E9PYL0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349339   ⟸   NM_001362410
- Peptide Label: isoform 3
- UniProtKB: E9PYL0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSMUSP00000026194   ⟸   ENSMUST00000026194
RefSeq Acc Id: ENSMUSP00000125662   ⟸   ENSMUST00000160455
RefSeq Acc Id: ENSMUSP00000071069   ⟸   ENSMUST00000069298
RefSeq Acc Id: ENSMUSP00000124209   ⟸   ENSMUST00000162061
RefSeq Acc Id: ENSMUSP00000125226   ⟸   ENSMUST00000162004
RefSeq Acc Id: ENSMUSP00000125483   ⟸   ENSMUST00000161252
RefSeq Acc Id: XP_036017359   ⟸   XM_036161466
- Peptide Label: isoform X3
- UniProtKB: E9Q045 (UniProtKB/TrEMBL)
Protein Domains
FUZ/MON1/HPS1 first Longin   FUZ/MON1/HPS1 second Longin   FUZ/MON1/HPS1 third Longin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O08983-F1-model_v2 AlphaFold O08983 1-704 view protein structure

Promoters
RGD ID:13679538
Promoter ID:EPDNEW_M23917
Type:initiation region
Name:Hps1_1
Description:Mus musculus HPS1, biogenesis of lysosomal organelles complex3 subunit 1 , transcript variant 2, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381942,779,954 - 42,780,014EPDNEW
RGD ID:6829746
Promoter ID:MM_KWN:27110
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0
Transcripts:OTTMUST00000080949,   OTTMUST00000080951,   OTTMUST00000082765,   OTTMUST00000083393
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361942,853,766 - 42,854,266 (+)MPROMDB
RGD ID:6830124
Promoter ID:MM_KWN:27111
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000080945,   OTTMUST00000080946,   OTTMUST00000080947,   OTTMUST00000080948,   UC008HOB.1,   UC008HOC.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361942,854,186 - 42,854,686 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2177763 AgrOrtholog
Ensembl Genes ENSMUSG00000025188 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSMUSP00000026194.9 UniProtKB/TrEMBL
  ENSMUSP00000071069 ENTREZGENE
  ENSMUSP00000071069.7 UniProtKB/TrEMBL
  ENSMUSP00000124209 ENTREZGENE
  ENSMUSP00000124209.2 UniProtKB/TrEMBL
  ENSMUSP00000125226 ENTREZGENE
  ENSMUSP00000125226.2 UniProtKB/TrEMBL
  ENSMUSP00000125483.2 UniProtKB/TrEMBL
  ENSMUSP00000125662 ENTREZGENE
  ENSMUSP00000125662.2 UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000026194.15 UniProtKB/TrEMBL
  ENSMUST00000069298 ENTREZGENE
  ENSMUST00000069298.13 UniProtKB/TrEMBL
  ENSMUST00000160455 ENTREZGENE
  ENSMUST00000160455.8 UniProtKB/TrEMBL
  ENSMUST00000161252.2 UniProtKB/TrEMBL
  ENSMUST00000162004 ENTREZGENE
  ENSMUST00000162004.8 UniProtKB/TrEMBL
  ENSMUST00000162061 ENTREZGENE
  ENSMUST00000162061.2 UniProtKB/TrEMBL
InterPro FUZ/MON1/HPS1_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HPS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:192236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:2177763 ENTREZGENE
NCBI Gene 192236 ENTREZGENE
PANTHER HERMANSKY-PUDLAK SYNDROME 1 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12761 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fuz_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuz_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuz_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Hps1 PhenoGen
UniProt A0A0R4J062 ENTREZGENE, UniProtKB/TrEMBL
  E9PYL0 ENTREZGENE, UniProtKB/TrEMBL
  E9Q045 ENTREZGENE, UniProtKB/TrEMBL
  F7BWJ7_MOUSE UniProtKB/TrEMBL
  HPS1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q3TBI2_MOUSE UniProtKB/TrEMBL
  Q3U309 ENTREZGENE, UniProtKB/TrEMBL
  Q5FWJ4_MOUSE UniProtKB/TrEMBL
  Q80VD7_MOUSE UniProtKB/TrEMBL
UniProt Secondary O35155 UniProtKB/Swiss-Prot
  O35725 UniProtKB/Swiss-Prot
  O35950 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-21 Hps1  HPS1, biogenesis of lysosomal organelles complex 3 subunit 1    Hermansky-Pudlak syndrome 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 Hps1  Hermansky-Pudlak syndrome 1  Gm21361  predicted gene, 21361  Data Merged 737654 PROVISIONAL
2015-12-29 Hps1  Hermansky-Pudlak syndrome 1    Hermansky-Pudlak syndrome 1 homolog (human)  Symbol and/or name change 5135510 APPROVED