Aliases for LOC100500719 Gene

Aliases for LOC100500719 Gene

  • HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1 Pseudogene 3
  • Hermansky-Pudlak Syndrome 1 Pseudogene 3

External Ids for LOC100500719 Gene

Previous GeneCards Identifiers for LOC100500719 Gene

  • GC22U900715
  • GC22M036933

Summaries for LOC100500719 Gene

GeneCards Summary for LOC100500719 Gene

LOC100500719 (HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1 Pseudogene) is a Pseudogene. Diseases associated with LOC100500719 include Hermansky-Pudlak Syndrome and Hermansky-Pudlak Syndrome 1.

Additional gene information for LOC100500719 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC100500719 Gene

Genomics for LOC100500719 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOC100500719 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J036536 Enhancer 0.5 Ensembl 600.7 +1.0 955 0.4 USF1 ZFHX2 FEZF1 EGR2 USF2 ENSG00000188078 LOC100500719 EIF3D CACNG2
GH22J036541 Enhancer 0.9 Ensembl ENCODE 0.7 -4.3 -4345 2.2 IKZF1 KDM1A JUND ZFX EP300 SCRT2 CTBP1 HDAC2 FOS MYC IFT27 LOC100500719 EIF3D ENSG00000229971 CACNG2
GH22J036546 Enhancer 0.7 ENCODE 0.4 -8.6 -8643 0.2 CTCF IKZF1 PATZ1 REST RAD21 DPF2 MGA THRA MNT MYC ENSG00000229971 LOC100500719 EIF3D CACNG2
GH22J036547 Enhancer 0.6 ENCODE 0.4 -9.4 -9415 1 ZNF24 CTCF DPF2 RAD21 SP1 JUND ZNF10 OSR2 FOS ZKSCAN1 ENSG00000229971 LOC100500719 EIF3D CACNG2
GH22J036545 Enhancer 0.6 Ensembl ENCODE 0.4 -7.0 -7045 1.2 ZFP91 ZFP36 ESRRA ENSG00000229971 LOC100500719 EIF3D CACNG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC100500719 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for LOC100500719 Gene

Genomic Locations for LOC100500719 Gene
1,148 bases
Minus strand
1,063 bases
Minus strand

Genomic View for LOC100500719 Gene

Genes around LOC100500719 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC100500719 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100500719 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100500719 Gene

Proteins for LOC100500719 Gene

Post-translational modifications for LOC100500719 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100500719 Gene

Domains & Families for LOC100500719 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100500719 Gene

Function for LOC100500719 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC100500719 Gene

Localization for LOC100500719 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC100500719 Gene

Pathways & Interactions for LOC100500719 Gene

PathCards logo

SuperPathways for LOC100500719 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC100500719 Gene


No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC100500719 Gene

Drugs & Compounds for LOC100500719 Gene

No Compound Related Data Available

Transcripts for LOC100500719 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100500719 Gene

No ASD Table

Relevant External Links for LOC100500719 Gene

GeneLoc Exon Structure for

No data available for mRNA/cDNA for LOC100500719 Gene

Expression for LOC100500719 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LOC100500719 Gene

genes like me logo Genes that share expression patterns with LOC100500719: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC100500719 Gene

Orthologs for LOC100500719 Gene

No data available for Orthologs and Evolution for LOC100500719 Gene

Paralogs for LOC100500719 Gene

No data available for Paralogs for LOC100500719 Gene

Variants for LOC100500719 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC100500719 Gene

Disorders for LOC100500719 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC100500719 Gene - From: GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
hermansky-pudlak syndrome 1
  • hps1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC100500719: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100500719 Gene

Publications for LOC100500719 Gene

  1. Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. (PMID: 10798370) Huizing M … Gahl WA (Human genetics 2000) 3

No data available for Mastermind for LOC100500719 Gene

Products for LOC100500719 Gene

Sources for LOC100500719 Gene