Reviewed March 2010
What is the official name of the HPS1 gene?
The official name of this gene is “Hermansky-Pudlak syndrome 1.”
HPS1 is the gene's official symbol. The HPS1 gene is also known by other names, listed below.
What is the normal function of the HPS1 gene?
The HPS1 gene provides instructions for making a protein that forms part of a complex called biogenesis of lysosome-related organelles complex-3 (BLOC-3). Although the specific function of BLOC-3 is not well understood, it plays a role in the formation and movement (trafficking) of a group of cellular structures called lysosome-related organelles (LROs). LROs are very similar to compartments within the cell called lysosomes, which digest and recycle materials. However, LROs perform specialized functions and are found only in certain cell types.
Within pigment cells (melanocytes), LROs called melanosomes produce and distribute melanin, which is the substance that gives skin, hair, and eyes their color. A different type of LRO is found in platelets, the blood cells involved in normal blood clotting. These LROs, called dense granules, release chemical signals that cause platelets to stick together and form a blood clot. LROs are also found in other specialized cells, including certain cells of the lungs.
How are changes in the HPS1 gene related to health conditions?
- Hermansky-Pudlak syndrome - caused by mutations in the HPS1 gene
At least 27 mutations in the HPS1 gene have been found to cause Hermansky-Pudlak syndrome type 1. These mutations impair the normal function of BLOC-3, disrupting the size, structure, and function of LROs in cells throughout the body. The most common mutation causes a duplication of genetic material within the HPS1 gene and is found in people from northwest Puerto Rico. Specifically, this mutation results in an extra 16 DNA building blocks (nucleotides) within the gene (written as 1470_1468dup16).
People with Hermansky-Pudlak syndrome have abnormally light coloring of the skin, hair, and eyes because melanosomes do not distribute melanin properly. The absence of dense granules within platelets leads to bleeding problems in affected individuals. A severe lung disease called pulmonary fibrosis may also develop due to abnormal LROs in certain lung cells.
Where is the HPS1 gene located?
Cytogenetic Location: 10q23.1-q23.3
Molecular Location on chromosome 10: base pairs 100,175,954 to 100,206,703
The HPS1 gene is located on the long (q) arm of chromosome 10 between positions 23.1 and 23.3.
More precisely, the HPS1 gene is located from base pair 100,175,954 to base pair 100,206,703 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about HPS1?
You and your healthcare professional may find the following resources about HPS1 helpful.
- MedlinePlus - Health information
Encyclopedia: Melanin (http://www.nlm.nih.gov/medlineplus/ency/imagepages/9620.htm)
- Educational resources - Information pages
Molecular Biology of the Cell (fourth edition, 2002): Some Lysosomes May Undergo Exocytosis (http://www.ncbi.nlm.nih.gov/books/NBK26844/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1287/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for HPS1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3257%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((HPS1%5BTIAB%5D)%20OR%20(Hermansky-Pudlak%20syndrome%201%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20NOT%20(Alzheimer)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604982)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3257)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=3257)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=5163)
- International Albinism Center at the University of Minnesota: HPS1 Mutation Database (http://albinismdb.med.umn.edu/hps1mut.html)
What other names do people use for the HPS1 gene or gene products?
- Hermansky-Pudlak syndrome 1 protein
- Hermansky-Pudlak syndrome 1 protein isoform a
- Hermansky-Pudlak syndrome 1 protein isoform c
- Hermansky-Pudlak syndrome type 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding HPS1?
blood clotting ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19555431?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3257)
- Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18):1258-64. (http://www.ncbi.nlm.nih.gov/pubmed/9562579?dopt=Abstract)
- Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18544035?dopt=Abstract)
- Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets. 2007 Mar;18(2):150-7. (http://www.ncbi.nlm.nih.gov/pubmed/17365864?dopt=Abstract)
- Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct;125(4):715-20. (http://www.ncbi.nlm.nih.gov/pubmed/16185271?dopt=Abstract)
- Li W, Feng Y, Hao C, Guo X, Cui Y, He M, He X. The BLOC interactomes form a network in endosomal transport. J Genet Genomics. 2007 Aug;34(8):669-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17707211?dopt=Abstract)
- OMIM: HPS1 GENE (http://omim.org/entry/604982)
- Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muńoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan;126(1):85-90. (http://www.ncbi.nlm.nih.gov/pubmed/16417222?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.