TABLE 2.
Disease-associated genes in humans and their model systems.
| zHuman gene | Alternative human gene names |
Affected protein complex/subunit |
Human disease |
Rodent model | Drosophila model |
Other models |
|---|---|---|---|---|---|---|
| BLOC1S1 | BLOS1, BORCS1, RT14, GCN5L1 | BLOC-1 and BORC subunit BLOS1 | Blos1Ell-Cre/loxp; Blos1nestin-Cre/loxp | blos1 |
bloc1s1ihb815 (z) blos-1(-) (c) |
|
| BLOC1S2 | BLOS2, BORCS2, CEAP, CEAP11 | BLOC-1 and BORC subunit BLOS2 | Bloc1s2−/− |
bloc1s2ihb818(z) p-Translucent (op) (d) |
||
| BLOC1S3 | Reduced Pigmentation (RP), BLOS3, HPS8 | BLOC-1 subunit BLOS3 | HPS8 | reduced pigmentation | ||
| BLOC1S4 | CNO, BLOS4, BCAS4L | BLOC-1 subunit Cappuccino | cappuccino | |||
| BLOC1S5 | MUTED, BLOS5, MU | BLOC-1 subunit Muted | muted | Tanaka’s mottled translucent (otm) (b) | ||
| BLOC1S6 |
PLDN, PALLID, BLOS6, HPS9 |
BLOC-1 subunit Pallidin | HPS9 | pallid | glo-2(-) (c) | |
| SNAPIN | BLOC1S7, BLOS7, BORCS3, SNAPAP | BLOC-1 and BORC subunit Snapin | snapin−/− | snpn-1 (c) | ||
| DTNBP1 | BLOC1S8, DBND, SNDY, HPS7 | BLOC-1 subunit Dysbindin | HPS7 | sandy | Mottled translucent of var (ov) (d) | |
| HPS3 | BLOC2S1, SUTAL | BLOC-2 subunit | HPS3 | cocoa | ||
| HPS5 | BLOC2S2, AIBP63 | BLOC-2 subunit | HPS5 | ruby-eye 2 | pink |
snow white (z) Aojuku translucent (oa) (d) |
| HPS6 | BLOC2S3 | BLOC-2 subunit | HPS6 | ruby-eye | no privacy (x) | |
| HPS1 | BLOC3S1, HPS | BLOC-3 subunit | HPS1 | pale ear | ||
| HPS4 | BLOC3S2, LE | BLOC-3 subunit | HPS4 | light ear | ||
| AP3B1 | ADTB3A, HPS2, PE | AP-3 β3A subunit | HPS2 | pearl; Ap3b1LN | ruby | apt-6(-) (c) |
| AP3D1 | ADTD, HPS10 | AP-3 δ subunit | HPS10 | mocha | garnet | apt-5(-) (c) |
| AP3M1 | AP-3 μ3A subunit | carmine | apt-7(-) (c) | |||
| AP3M2 | P47B, AP47B, CLA20 | AP-3 μ2 subunit | ||||
| AP3S1 | CLAPS3 | AP-3 σ3A subunit | orange | |||
| AP3S2 | AP3S3 | AP-3 σ2 subunit | ||||
| VPS33A | MPSPS | HOPS/CORVET subunit VPS33A | buff | carnation | vps-33.1(-) (c) | |
| VPS11 | END1, PEP5, RNF108, HLD12 | HOPS/CORVET subunit VPS11 |
vps-11(-) (c) platinum (z) |
|||
| VPS16 | HOPS/CORVET subunit VPS16A | maroon | vps-16(-) (c) | |||
| VPS18 | PEP3 | HOPS/CORVET subunit VPS18 | deep orange |
vps-18(-) (c) vps18(hi2499A) (z) |
||
| VPS41 | HOPS subunit VPS41 | light | vps-41(-) (c) | |||
| VPS39 | VAM6, TLP | HOPS subunit VPS39 |
vps-39(-) (c) lbk/vam6 (z) |
|||
| RAB38 | NY-MEL1 | RAB38 | Chocolate mouse; Ruby rat | lightoid | glo-1(-) (c) | |
| RAB32 | RAB32 | lightoid | glo-1(-) (c) | |||
| RABGGTA | PTAR3, RGGTA | Rab geranylgeranyltransferase II subunit α | gunmetal | |||
| SLC7A11 | XCT, CCBR1 | SLC7A11 | subtle gray | |||
| LYST | CHS1 | LYST | CHS | beige | mauve |
lvsA, lvsB (d) lyst-1(-) (c) |
| VPS33B | CHEVI complex subunit VPS33B | ARC | Vps33bfl/fl |
vps33.2(-) (c) vps33b MO (z) |
||
| VIPAS39 | VIPAR, VPS16B, SPE-39, C14orf133 | CHEVI complex subunit VPS16B | ARC | Vipas39fl/fl | full of bacteria |
spe39(-) (c) vipar MO (z) |
| NBEAL2 | GPS, BDPLT4 | NBEAL2 | GPS | nbeal2−/− | ||
| MYOVA | MYH12, MYR12, MYOV | Myosin Va | GS1 | dilute | ||
| RAB27A | RAM | Rab GTPase RAB27A | GS2 | ashen | ||
| MLPH | SLC2-A | Melanophilin | GS3 | leaden | ||
| UNC13D | Munc13-4 | Munc13-4 | FHL3 | Jinx | ||
| STX11 | Syntaxin-11 | FHL4 | Stx11−/− | |||
| STXBP2 | Munc18-2, UNC18-2, UNC18B | Munc18-2 (Munc18b) | FHL5 | Munc18b+/− |
Key:
(z): zebrafish; (c): C. elegans; (x): Xenopus laevis; (d): D. discoideum; (b): Bombyx mori.
Colored highlights indicate subunits of the same multisubunit protein complex.
Targeted gene knockouts in mice are indicated as −/−; mice with conditional knockouts in specific cell types through Cre/loxp technology are indicated as fl/fl.