Table I.
Genes Associated with Hermansky-Pudlak Syndrome1
| HPS type | Gene | GeneID; mRNA2 (# exons) | Locus | Protein | Protein ID2 (# aa; Mw) | Complex | ~ # variants reported3 |
|---|---|---|---|---|---|---|---|
| HPS-1 | HPS1 | ID:3257; NM_000195 (20 exons) |
10q24.2 | HPS1 |
NP_000186 (700 aa; 79.3 kD) |
BLOC-3 | 64 |
| HPS-2 | AP3B1 | ID:8546; NM_003664 (27 exons) |
5q14.1 | AP-3 Beta 3A subunit |
NP_003655 (1094 aa; 121.3 kD) |
AP-3 | 38 |
| HPS-3 | HPS3 | ID:84343; NM_032383 (17 exons) |
3q24 | HPS3 |
NP_115759 (1004 aa; 113.7 kD) |
BLOC-2 | 23 |
| HPS-4 | HPS4 | ID:89781; NM_022081 (14 exons) |
22q12.1 | HPS4 |
NP_071364 (708 aa; 76.9 kD) |
BLOC-3 | 30 |
| HPS-5 | HPS5 | ID:11234; NM_181507 (23 exons) |
11p15.1 | HPS5 |
NP_852608 (1129 aa; 127.4kD) |
BLOC-2 | 31 |
| HPS-6 | HPS6 | ID:79803; NM_024747 (1 exon) |
10q24.32 | HPS6 |
NP_079023 (775 aa; 83.0 kD) |
BLOC-2 | 40 |
| HPS-7 | DTNBP1 | ID:84062; NM_032122 (10 exons) |
6p22.3 | Dysbindin |
NP_115498 (351 aa; 39.5 kD) |
BLOC-1 | 3 |
| HPS-8 | BLOC1S3 | ID:388552; NM_212550 (2 exons) |
19q13.32 | BLOC-1 subunit 3 |
NP_997715 (202 aa; 21.3 kD) |
BLOC-1 | 4 |
| HPS-9 | PLDN | ID:26258; NM_001311255 (5 exons) |
15q21.1 | Pallidin |
NP_001298184 (177 aa; 20.3 kD) |
BLOC-1 | 2 |
| HPS-10 | AP3D1 | ID:8943; NM_001261826 (32 exons) |
19p13.3 | AP-3 delta subunit |
NP_001248755 (1215 aa; 136.7 kD) |
AP-3 | 1 |
Abbreviations: aa, amino acids; AP, Adaptor Protein; BLOC, Biogenesis of Lysosome-related Organelles Complex; kD, kilodaltons; Mw, molecular weight.
1
As of July 2019
2
Genbank accession numbers of the mRNA and protein product encoding the longest isoform (often transcript variant 1), its number of exons, amino acids and predicted protein molecular weight.
3
Reported in the Human Gene Mutation Database (Professional 2019.1; http://www.hgmd.cf.ac.uk/) and additional literature reports.