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

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) Pan paniscus
Analyze
Symbol: HPS1
Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
RGD ID: 11748522
Description: ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN blood coagulation (ortholog); cell morphogenesis (ortholog); eye pigmentation (ortholog); ASSOCIATED WITH genetic disease (ortholog); Hermansky-Pudlak syndrome (ortholog); Hermansky-Pudlak syndrome 1 (ortholog); FOUND IN BLOC-3 complex (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: BLOC-3 complex member HPS1; HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBINHGRI_mPanPan1-v2
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
HPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBINHGRI_mPanPan1-v2
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381098,413,948 - 98,446,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 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
(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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81251,500,427 - 251,526,529 (-)NCBIGRCr8
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_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01256,393,616 - 256,418,400 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01249,046,621 - 249,071,405 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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
(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 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts XM_003825448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008950769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_014346562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_014346563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_014346564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024930365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024930366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_055093273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_057298967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_057298968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_057298970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063607846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063607847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063607848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JARIFH020000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSPPAT00000042704   ⟹   ENSPPAP00000019924
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1098,526,113 - 98,552,922 (-)Ensembl
RefSeq Acc Id: ENSPPAT00000042720   ⟹   ENSPPAP00000019940
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1098,527,479 - 98,552,922 (-)Ensembl
RefSeq Acc Id: ENSPPAT00000042732   ⟹   ENSPPAP00000019951
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1098,539,369 - 98,552,922 (-)Ensembl
RefSeq Acc Id: XM_008950769   ⟹   XP_008949017
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,986 (-)NCBI
NHGRI_mPanPan110110,327,510 - 110,358,304 (-)NCBI
Mhudiblu_PPA_v01095,030,626 - 95,061,412 (-)NCBI
PanPan1.11098,526,127 - 98,556,629 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024930365   ⟹   XP_024786133
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,986 (-)NCBI
NHGRI_mPanPan110110,327,510 - 110,358,304 (-)NCBI
Mhudiblu_PPA_v01095,030,626 - 95,061,412 (-)NCBI
PanPan1.11098,526,127 - 98,556,629 (-)NCBI
Sequence:
RefSeq Acc Id: XM_055093260   ⟹   XP_054949235
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,991 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,304 (-)NCBI
RefSeq Acc Id: XM_055093261   ⟹   XP_054949236
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,303 (-)NCBI
RefSeq Acc Id: XM_055093262   ⟹   XP_054949237
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,969 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,284 (-)NCBI
RefSeq Acc Id: XM_055093263   ⟹   XP_054949238
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,971 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,275 (-)NCBI
RefSeq Acc Id: XM_055093264   ⟹   XP_054949239
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,962 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,148 (-)NCBI
RefSeq Acc Id: XM_055093265   ⟹   XP_054949240
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,986 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,304 (-)NCBI
RefSeq Acc Id: XM_055093266   ⟹   XP_054949241
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBI
NHGRI_mPanPan110110,327,510 - 110,358,302 (-)NCBI
RefSeq Acc Id: XM_055093267   ⟹   XP_054949242
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,969 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,284 (-)NCBI
RefSeq Acc Id: XM_055093268   ⟹   XP_054949243
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,967 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,281 (-)NCBI
RefSeq Acc Id: XM_055093269   ⟹   XP_054949244
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,834 (-)NCBI
NHGRI_mPanPan110110,328,341 - 110,358,152 (-)NCBI
RefSeq Acc Id: XM_055093272   ⟹   XP_054949247
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,335,173 - 110,352,825 (-)NCBI
NHGRI_mPanPan110110,339,184 - 110,358,143 (-)NCBI
RefSeq Acc Id: XM_055093273   ⟹   XP_054949248
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,335,173 - 110,352,822 (-)NCBI
NHGRI_mPanPan110110,339,182 - 110,358,140 (-)NCBI
RefSeq Acc Id: XM_057298967   ⟹   XP_057154950
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBI
NHGRI_mPanPan110110,327,510 - 110,358,302 (-)NCBI
RefSeq Acc Id: XM_057298968   ⟹   XP_057154951
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,352,969 (-)NCBI
NHGRI_mPanPan110110,327,510 - 110,358,283 (-)NCBI
RefSeq Acc Id: XM_057298970   ⟹   XP_057154953
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBI
NHGRI_mPanPan110110,327,510 - 110,358,301 (-)NCBI
RefSeq Acc Id: XM_063607846   ⟹   XP_063463916
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,341,802 (-)NCBI
RefSeq Acc Id: XM_063607847   ⟹   XP_063463917
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,323,009 - 110,341,802 (-)NCBI
RefSeq Acc Id: XM_063607848   ⟹   XP_063463918
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v28110,335,173 - 110,352,967 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_008949017   ⟸   XM_008950769
- Peptide Label: isoform X2
- UniProtKB: A0A2R9AY02 (UniProtKB/TrEMBL),   A0A2R9AVW8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024786133   ⟸   XM_024930365
- Peptide Label: isoform X4
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSPPAP00000019924   ⟸   ENSPPAT00000042704
RefSeq Acc Id: ENSPPAP00000019940   ⟸   ENSPPAT00000042720
RefSeq Acc Id: ENSPPAP00000019951   ⟸   ENSPPAT00000042732
RefSeq Acc Id: XP_054949241   ⟸   XM_055093266
- Peptide Label: isoform X3
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949240   ⟸   XM_055093265
- Peptide Label: isoform X3
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949235   ⟸   XM_055093260
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949236   ⟸   XM_055093261
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949242   ⟸   XM_055093267
- Peptide Label: isoform X3
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949237   ⟸   XM_055093262
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949243   ⟸   XM_055093268
- Peptide Label: isoform X3
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949238   ⟸   XM_055093263
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949244   ⟸   XM_055093269
- Peptide Label: isoform X3
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949239   ⟸   XM_055093264
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054949248   ⟸   XM_055093273
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054949247   ⟸   XM_055093272
- Peptide Label: isoform X7
RefSeq Acc Id: XP_057154950   ⟸   XM_057298967
- Peptide Label: isoform X2
- UniProtKB: A0A2R9AY02 (UniProtKB/TrEMBL),   A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_057154953   ⟸   XM_057298970
- Peptide Label: isoform X4
- UniProtKB: A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_057154951   ⟸   XM_057298968
- Peptide Label: isoform X2
- UniProtKB: A0A2R9AY02 (UniProtKB/TrEMBL),   A0A2R9AVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063463917   ⟸   XM_063607847
- Peptide Label: isoform X6
RefSeq Acc Id: XP_063463916   ⟸   XM_063607846
- Peptide Label: isoform X5
RefSeq Acc Id: XP_063463918   ⟸   XM_063607848
- Peptide Label: isoform X7
Protein Domains
FUZ/MON1/HPS1 first Longin   FUZ/MON1/HPS1 second Longin   FUZ/MON1/HPS1 third Longin


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000033115 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000042704.1 UniProtKB/TrEMBL
  ENSPPAT00000042720.1 UniProtKB/TrEMBL
  ENSPPAT00000042732.1 UniProtKB/TrEMBL
InterPro FUZ/MON1/HPS1_longin_1 UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_2 UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_3 UniProtKB/TrEMBL
  HPS1 UniProtKB/TrEMBL
KEGG Report pps:100989181 UniProtKB/TrEMBL
NCBI Gene HPS1 ENTREZGENE
PANTHER HERMANSKY-PUDLAK SYNDROME 1 PROTEIN UniProtKB/TrEMBL
  PTHR12761 UniProtKB/TrEMBL
Pfam Fuz_longin_1 UniProtKB/TrEMBL
  Fuz_longin_2 UniProtKB/TrEMBL
  Fuz_longin_3 UniProtKB/TrEMBL
UniProt A0A2R9ARI1_PANPA UniProtKB/TrEMBL
  A0A2R9AVW8 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R9AY02 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 HPS1  HPS1 biogenesis of lysosomal organelles complex 3 subunit 1    HPS1, biogenesis of lysosomal organelles complex 3 subunit 1  Symbol and/or name change 5135510 APPROVED