HPS1 Gene
protein-coding GIFtS: 54
GCID: GC10M100165
|
|
Hermansky-Pudlak syndrome 1(Previous name: Hermansky-Pudlak syndrome ) (Previous symbol: HPS)
| |
Aliases for HPS1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Hermansky-Pudlak Syndrome 11 2 | | HPS1 2 3 | | Hermansky-Pudlak Syndrome1 | | Hermansky-Pudlak Syndrome 1 Protein2 |
Export aliases for HPS1 gene to outside databasesPrevious GC identifers: GC10M099069 GC10M099409 GC10M100307 GC10M099840 GC10M093800 |
Summaries for HPS1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for HPS1: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet densegranules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis oflysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated withHermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified forthis gene; the full-length sequences of some of these have not been determined yet. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902Function: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function.May be involved in intracellular protein sorting Gene Wiki entry for HPS1
|
Genomic Views for HPS1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HPS1 gene promoter: AhR GATA-3 AML1a LCR-F1 GATA-2 GATA-1 C/EBPalpha E47 HFH-1 Hand1 Other transcription factors
Search SABiosciences Chromatin IP Primers for HPS1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPS1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q23.1-q23.3 Ensembl cytogenetic band: 10q24.2 HGNC cytogenetic band: 10q23.1-q23.3HPS1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10M100165: view genomic region
(about GC identifiers)
Start:
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100,175,955 bp from pter |
End:
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100,206,704 bp from pter |
Size:
|
30,750 bases |
Orientation:
|
minus strand |
|
Proteins for HPS1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902 (See
protein sequence)Recommended Name: Hermansky-Pudlak syndrome 1 protein Size: 700 amino acids; 79292 Da
Secondary accessions: A8MRT2 O15402 O15502 Q5TAA3 Q8WXE5Alternative splicing: 4 isoforms: Q92902-1 Q92902-2 Q92902-3 Q92902-4 Explore the universe of human proteins at neXtProt for HPS1: NX_Q92902
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92902 HPS1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000186.2 NP_872577.1 ENSEMBL proteins: ENSP00000326649 ENSP00000355310 ENSP00000352652 ENSP00000343638 ENSP00000392462 Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
HPS1 for ontologies About GeneDecksing
HPS1 Antibody Products: Assay Products for HPS1: |
Protein
Domains / Families for HPS1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HPS1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q92902ProtoNet protein and cluster: Q92902 |
Function for HPS1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902Function: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function.May be involved in intracellular protein sorting
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPS1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPS1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): HPS1 (NM_000195) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HPS1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
HPS1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for HPS1: Animal Models: 13 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Hps1):
HPS1 for phenotypes About GeneDecksing
|
Pathways & Interactions for HPS1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HPS1
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 4 Interacting proteins for HPS1 (Q929021, 3 ENSP000003266494) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
HPS1 for ontologies About GeneDecksing
|
Drugs & Compounds for HPS1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HPS1 for compounds About GeneDecksing
Browse Tocris compounds for HPS1 2 Novoseek chemical compound relationships for HPS1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| protamine |
37.7 |
1 |
2397030 (1) |
| levodopa |
17.5 |
1 |
11564171 (1) |
Search CenterWatch for drugs/clinical trials and news about HPS1 
|
Transcripts for HPS1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for HPS1 gene (4 alternative transcripts): NM_000195.3 NM_182639.2 NM_182637.1 NM_182638.1 Unigene Cluster for HPS1: Hermansky-Pudlak syndrome 1 Hs.404568 [show with all ESTs]Unigene Representative Sequence: NM_00019514 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000325103(uc021pwv.1 uc010qph.1) ENST00000361490 ENST00000467246(uc010qpg.2 uc009xwb.3) ENST00000462743 ENST00000478087 ENST00000359632 ENST00000470095 ENST00000497527 ENST00000498219 ENST00000338546(uc001kpl.3) ENST00000414009 ENST00000480020 ENST00000474873 ENST00000465957
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPS1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPS1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): HPS1 (NM_000195) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HPS1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS1  |
Additional cDNA sequence: AK295821.1 AL833734.1 BC000175.2 BC002514.2 BC127087.1 BX647296.1 U65676.1 U96721.1 24 DOTS entries: DT.116671 DT.451648 DT.101985039 DT.101985040 DT.100814780 DT.433824 DT.95153127 DT.95153140 DT.100759743 DT.100814786 DT.121290327 DT.95109317 DT.95153143 DT.97847486 DT.100658435 DT.100683337 DT.121290326 DT.100814779 DT.95313359 DT.97797952 DT.100814787 DT.116675 DT.121290342 DT.95153126 24/218 AceView cDNA sequences (see all 218): CR593191 CD673355 Z40097 CR600212 BX451587 BM758873 NM_000195 BG388727 NM_182638 AA334371 BU629693 BX092521 AK123386 CA488995 CR609635 AI091137 BX282181 CF125945 AK074429 BE747083 BU196145 AA608965 BQ278880 BU172907 GeneLoc Exon Structure
5/17 Alternative Splicing Database (ASD) splice patterns (SP) for HPS1 (see all 17) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | |
| SP1: | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | - |   | |   | - |   | |   | - |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |
| SP3: | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | - |   | |   | - |   | |   | - |   |
| ExUns: | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | |
| SP1: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for HPS1
|
Expression for HPS1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HPS1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See HPS1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HPS1
SOURCE GeneReport for Unigene cluster: Hs.404568 UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902Tissue specificity: Ubiquitous SABiosciences Custom PCR Arrays for HPS1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPS1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HPS1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPS1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPS1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS1 |
Orthologs for HPS1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for HPS1 gene from 6/16 species (see all 16) About this table
ENSEMBL Gene Tree for HPS1 (if available) TreeFam Gene Tree for HPS1 (if available)  |
Paralogs for HPS1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for HPS1 gene
1 SIMAP similar gene for HPS1 using alignment to 5 protein entries: HPS1_HUMAN (see all proteins):DKFZp666K145
HPS1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for HPS1 PGOHUM00000250325
|
Genomic Variants for HPS1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 10 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for HPS1 (100175955 - 100206704 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for HPS1 1 CNV: 48389 Human Gene Mutation Database (HGMD): HPS1
Locus Specific Mutation Databases (LSDB): HPS1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPS1 |
|
Disorders
/ Diseases for HPS1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HPS1 for disorders About GeneDecksing
OMIM gene information: 604982 OMIM disorders: 203300 UniProtKB/Swiss-Prot: HPS1_HUMAN, Q92902
Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [MIM:203300]. Hermansky-Pudlaksyndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneousalbinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results fromdefects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storagein the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS 20/21 diseases for HPS1 (see all 21): About MalaCardshermansky-pudlak syndrome hermansky-pudlak syndrome 1 platelet storage pool deficiency chediak-higashi syndrome oculocutaneous albinism type 1 oculocutaneous albinism albinism ocular albinism piebaldism systemic lupus erythematosus lupus erythematosus pulmonary function nevus pulmonary fibrosis intestinal disease was-related disorders fibrosis crohn's disease alzheimer's disease melanoma
2 diseases from the University of Copenhagen DISEASES database for HPS1:Hermansky-Pudlak syndrome Piebaldism 6 Novoseek disease relationships for HPS1 gene About this table
GeneTests: HPS1 Hermansky-Pudlak Syndrome Human Genome Epidemiology (HuGE) Navigator: HPS1 (8 documents) Export disorders for HPS1 gene to outside databases
|
Publications for HPS1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HPS1 gene, integrated from 9 sources (see all 81): (articles sorted by number of sources associating them with HPS1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Characterization of a partial pseudogene homologous to the Hermansky- Pudlak syndrome gene HPS-1; relevance for mutation detection. (PubMed id 10798370)1, 2, 9 Huizing M.... Gahl W.A. (2000)
- Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. (PubMed id 9579545)1, 2 Wildenberg S.C.... King R.A. (1998)
- Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. (PubMed id 9497254)1, 2 Oh J.... Spritz R.A. (1998)
- Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. (PubMed id 9182823)1, 2 Bailin T.... Spritz R.A. (1997)
- Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. (PubMed id 8896559)1, 2 Oh J.... Spritz R.A. (1996)
- A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. (PubMed id 7573033)1, 3 Wildenberg S.C....King R.A. (1995)
- Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. (PubMed id 8541858)1, 3 Fukai K....Spritz R.A. (1995)
- Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (PubMed id 11836498)1, 9 Suzuki T.... Spritz R.A. (2002)
- Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (PubMed id 12442288)1, 9 Hermos C.R....Gahl W.A. (2002)
- Compound heterozygous mutations in 2 siblings with He rmansky-Pudlak syndrome type 1 (HPS1). (PubMed id 20514622)1, 9 Sandrock K....Zieger B. (2010)
|
External Searches for HPS1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HPS1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HPS1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HPS1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for HPS1 | Pharmacogenomics, SNPs, Pathways | | Mutations of the HPS gene | http://www.retina-international.org/files/sci-news/epmut.htm | | Albinism database (ADB) | http://albinismdb.med.umn.edu/hps1mut.html | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPS1 |
|
| | |
About This Section
| Patent Information for HPS1 gene: Search GeneIP for patents involving HPS1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for HPS1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for HPS1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HPS1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPS1 | | OriGene Protein Over-expression Lysate for HPS1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for HPS1 | | OriGene 3'-UTR Clone for HPS1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPS1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPS1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for HPS1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for HPS1 | | OriGene Custom Protein Services for HPS1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HPS1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPS1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPS1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HPS1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPS1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPS1 |
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| | | Search Tocris compounds for HPS1 |
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 | | HPS1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS1 |
|  |  |  | | | ThermoFisher Antibodies for HPS1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS1 |
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