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) Heterocephalus glaber
Analyze
Symbol: Hps1
Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
RGD ID: 18933281
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 protein
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Latest Assembly: HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
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
(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


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSHGLT00000019420   ⟹   ENSHGLP00000019229
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_00462473710,007,777 - 10,041,100 (-)Ensembl
RefSeq Acc Id: ENSHGLT00000019421   ⟹   ENSHGLP00000019230
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_00462473710,009,171 - 10,039,022 (-)Ensembl
RefSeq Acc Id: ENSHGLT00000019422   ⟹   ENSHGLP00000019231
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_00462473710,009,171 - 10,039,022 (-)Ensembl
RefSeq Acc Id: XM_004838640   ⟹   XP_004838697
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,008,807 - 10,042,927 (-)NCBI
RefSeq Acc Id: XM_004838641   ⟹   XP_004838698
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,009,171 - 10,042,928 (-)NCBI
RefSeq Acc Id: XM_013069928   ⟹   XP_012925382
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,008,807 - 10,042,927 (-)NCBI
RefSeq Acc Id: XM_013069929   ⟹   XP_012925383
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,009,171 - 10,039,022 (-)NCBI
RefSeq Acc Id: XM_013069930   ⟹   XP_012925384
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,009,171 - 10,025,206 (-)NCBI
RefSeq Acc Id: XM_021253178   ⟹   XP_021108837
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,009,171 - 10,042,484 (-)NCBI
RefSeq Acc Id: XM_021253179   ⟹   XP_021108838
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462473710,013,657 - 10,042,927 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_012925382   ⟸   XM_013069928
- Peptide Label: isoform X2
- UniProtKB: G5C4V2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_004838697   ⟸   XM_004838640
- Peptide Label: isoform X1
- UniProtKB: G5C4V2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_004838698   ⟸   XM_004838641
- Peptide Label: isoform X1
- UniProtKB: G5C4V2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_021108837   ⟸   XM_021253178
- Peptide Label: isoform X1
- UniProtKB: G5C4V2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012925383   ⟸   XM_013069929
- Peptide Label: isoform X3
- UniProtKB: G5C4V2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012925384   ⟸   XM_013069930
- Peptide Label: isoform X4
RefSeq Acc Id: XP_021108838   ⟸   XM_021253179
- Peptide Label: isoform X5
RefSeq Acc Id: ENSHGLP00000019231   ⟸   ENSHGLT00000019422
RefSeq Acc Id: ENSHGLP00000019229   ⟸   ENSHGLT00000019420
RefSeq Acc Id: ENSHGLP00000019230   ⟸   ENSHGLT00000019421


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSHGLG00000013798 Ensembl, ENTREZGENE
Ensembl Transcript ENSHGLT00000019420 ENTREZGENE
  ENSHGLT00000019421 ENTREZGENE
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
  HERMANSKY-PUDLAK SYNDROME PROTEIN 1 UniProtKB/TrEMBL
Pfam Fuz_longin_1 UniProtKB/TrEMBL
  Fuz_longin_2 UniProtKB/TrEMBL
  Fuz_longin_3 UniProtKB/TrEMBL
UniProt G5C4V2 ENTREZGENE, UniProtKB/TrEMBL