Review Article

Genetics of Proteasome Diseases

Table 1

Names and characteristics of human proteasome genes.

Gene nameProtein nameOther namesChromosome locationSequence length MW (Da)First methionine removed PolymorphismsReference

20S subunits
PSMA1 C2, Pro- , _sc, nu, Pros30, p30k, Pre5, HC2, PSC211p15.126329556Nors17850016 (G37V)[36, 37]
PSMA2 C3, Pro- , _sc, Pre8, Prs4, Y7, HC3, PSC3, Lmpc37p14.123325767Yes(L110V)[38, 39]
PSMA3 C8, Pro- , _sc, Pre10, Prs1, C1, Prc1, HC8, PSC814q2325428302Yes[40]
PSMA4 C9, Pro- , _sc, Pre9, Prs5, Y13, HC9, PSC915q25.126129484No[41]
PSMA5 Zeta, Pro- , _sc, Pip2, Doa5, Pup2 1p1324126411No[42]
PSMA6 Iota, Pro- , _sc, Pros27, pre27k, C7, Prs2, Y8, Scl114q1324627399Nors1048990 (-8C-G), rs15434 (A233S)[37, 43, 44]
PSMA7 C6, Pro- , _sc, XAPC-7, Pre620q13.3324827887No335C-A (A112D)[38, 45]
PSMA8PSMA7L18q11.225628530 No[46]
PSMB1 C5, gamma, Psc5, Pre7, Prs3, Pts16q2724126489Nors12717 (P11A), rs10541 (I208N)[36, 47]
PSMB2 C7, Pre1, C11, C7-I, HC7-I1p34.220122836No[48]
PSMB3 C10, theta, Pup3, C10-II17q1220422818Yesrs4907 (M34L)[48, 49]
PSMB4 N3, beta, Pros26, HsN3, Pre4, Rn3, Lmp31q21264/219*29204/24392*Nors1804241 (M95I), rs4603 (I234T)[46, 4851]
PSMB5 X, epsilon, LmpX, MB1, Pre2, Doa3, Prg114q11.2263/204*28480/22458*Nors11543947 (R24C)[44, 48, 52]
PSMB6 Y, delta, LmpY, Pre3, Lmp1917p13239/205*25358/21904*Yesrs2304974 (P107A)[44, 52]
PSMB7 Z, alpha, Pup1, Mmc149q34.11-q34.12277/234*29965/25295*Nors4574 (V39A)[36, 53]
PSMB8 Lmp7, Psmb5i, Ring10, Y2, C13, Mc136p21.3 276/204*30354/22660*Nors114772012 (G8R), (PGH30-32RPD), rs2071543 (Q49K), rs17220206 (T74S), (T75M), (G201V)[46, 5457]
PSMB9 Lmp2, Psmb6i, Ring126p21.3219/199*23264/21276*Nors35100697 (G9E), rs241419 (V32I), rs17587 (R60H), rs17213861 (R173C)[58, 59]
PSMB10 MECL-1, Lmp1016q22.1273/234*28936/24648*No[60]
PSMB11 beta5i-like, beta5t14q11.2300/251*32530/27232*Nors34457782 (G49S)[34]

19S proteasome
PSMC1Rpt2S4, Yhs4, Yta5, P26s414q32.1144049185Yes[38]
PSMC2Rpt1S7, Mss1, Yta3, Cim5, Nbla100587q22.1-q22.343248503Yes[61]
PSMC3Rpt5S6a, S6′, p50, Tbp1, Yta1, Sata11p11.243949204No[61]
PSMC4Rpt3S6b, S6, Mip224, Tbp7, Yta2, Ynt1, Cip2119q13.11-q13.1341847336No[61]
PSMC5Rpt6S8, p45, Trip1, Sug1, Cim3, Crl3, Tbpy, Tby117q23.340545495Yes(R60Q), rs11543211 (R258W)[39, 44]
PSMC6Rpt4S10b, p42, Sug2, Prs10, Pcs1, Crl13, CADP44, P4414q22.138944173No[38]
PSMD1Rpn2S1, p112, Sen32q37.1953105836No[60]
PSMD2Rpn1S2, p97, Trap2, Hrd2, Nas1, Rpd1, Protein 55.113q27.1 908100200Nors11545172 (A176T), rs11545169 (E313D), rs17856236 (N724Y)[44, 61]
PSMD3Rpn3S3, p58, Sun2, P91a, Tstap91a17q21.153460978No[60]
PSMD4Rpn10S5a, ASF1, Mcb1, Sun11q21.337740737No[61]
PSMD5S5b, KIAA00729q34.1150356065Yesrs2297575 (E21G), rs17282618 (L72H)[60, 61]
PSMD6Rpn7S10a, SGA-113M, p44S10, p42A, PFAAP4, KIAA01073p21.138945531No[60]
PSMD7Rpn8S12, p40, Mov34L16q23-q2432437025No[62]
PSMD8Rpn12S14, p31, Nin119q13.235039612No[60]
PSMD9S15, p2712q24.31-q24.3222324682Nors2230681 (V17A), rs2291116 (T74I), rs1177573 (R134W), rs1177573 (E197G)[50, 6365]
PSMD10Gank-yrinp28, p28(GANK)Xq22.3 22624428No[38]
PSMD11Rpn6S9, p44.5, Nas417q11.242147333Yes[38]
PSMD12Rpn5p55, Nas517q24.3 45552773Yesrs2230680 (V358A)[60]
PSMD13Rpn9S11, p40.5, Les1, Nas711p15.537642945Nors1045288 (N13S), rs28927679 (S150L), rs1794108 (G204E), rs1794109 (L205F)[36, 6668]
PSMD14Rpn11Poh1, Mpr1, Mad1, Pad1, PAD1 homolog 1,2q24.231034577No[38]

Proteasome activators
PSME1PA PA28A, IFI5111, 1S REG-alpha14q11.224928723Nors1803830 (S55N), rs14930 (T244K)[48, 52]
PSME2PA PA28B, 1S REG-beta14q1223827270Yesrs7146672 (H89P)[48, 60, 69]
PSME3PA PA28G17q21.3125329375Yes[60, 70]
PSME4PA200KIAA0077, 1S REG-gamma2p16.21843211334Nors2302878 (I872V), rs805408 (S1371T), rs35903236 (T1825A)[38, 44]

Proteasome inhibitor
PSMF1PI3120p1327129817Nors1803415 (F36C), rs2235587 (H176R)[60, 71]

Mature form of protein after propeptide is removed. When the first residue (methionine) of some proteins is removed, the molecular weights and sequence length given represent the mature forms of the proteasome subunit with the methionine removed.