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- Table of Contents
Facts about Hermansky-Pudlak syndrome 5 protein.
May be involved in the regulation of overall functions of integrins. .
| Human | |
|---|---|
| Gene Name: | HPS5 |
| Uniprot: | Q9UPZ3 |
| Entrez: | 11234 |

| Belongs to: |
|---|
| HPS5 family |

Hermansky-Pudlak syndrome 5 protein
Mass (kDA):
127.449 kDA

| Human | |
|---|---|
| Location: | 11p15.1 |
| Sequence: | 11; NC_000011.10 (18278670..18322498, complement) |
Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.
Cytoplasm, cytosol.



PMID: 12548288 by Zhang Q., et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
PMID: 10094488 by Wixler V., et al. Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains.