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) Chinchilla lanigera
Analyze
Symbol: Hps1
Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
RGD ID: 8903505
Description: ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); protein dimerization 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); cytoplasm (ortholog); cytoplasmic vesicle (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: Hermansky-Pudlak syndrome 1; HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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
(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


Reference Sequences
RefSeq Acc Id: ENSCLAT00000004844   ⟹   ENSCLAP00000004756
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_0049555074,409,035 - 4,429,348 (-)Ensembl
RefSeq Acc Id: XM_013506202   ⟹   XP_013361656
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049555074,408,428 - 4,433,219 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013506203   ⟹   XP_013361657
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049555074,408,428 - 4,433,181 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013506204   ⟹   XP_013361658
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049555074,408,428 - 4,433,219 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001231634
Type: NON-CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049555074,410,220 - 4,433,219 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_013361656 (Get FASTA)   NCBI Sequence Viewer  
  XP_013361657 (Get FASTA)   NCBI Sequence Viewer  
  XP_013361658 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCLAP00000004756
  ENSCLAP00000004756.1
Reference Protein Sequences
RefSeq Acc Id: XP_013361658   ⟸   XM_013506204
- Peptide Label: isoform X2
- UniProtKB: A0A8C2UXK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013361656   ⟸   XM_013506202
- Peptide Label: isoform X1
- UniProtKB: A0A8C2UXK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013361657   ⟸   XM_013506203
- Peptide Label: isoform X1
- UniProtKB: A0A8C2UXK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCLAP00000004756   ⟸   ENSCLAT00000004844
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 ENSCLAG00000003379 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000004844 ENTREZGENE
  ENSCLAT00000004844.1 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
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 A0A8C2UXK2 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
2016-08-03 Hps1  HPS1, biogenesis of lysosomal organelles complex 3 subunit 1    Hermansky-Pudlak syndrome 1  Symbol and/or name change 5135510 APPROVED