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Results for the Protein: O95477
308153644
19

ABCA1_HUMAN RecName: Full=ATP-binding cassette sub-family A member 1; AltName: Full=ATP-binding cassette transporter 1; Short=ABC-1; Short=ATP-binding cassette 1; AltName: Full=Cholesterol efflux regulatory protein

Known Diseases associated with this Protein:
  AGAINST
  CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  HIGH DENSITY LIPOPROTEIN DEFICIENCY 1 (HDLD1)
  HIGH DENSITY LIPOPROTEIN DEFICIENCY 2 (HDLD2)
  TANGIER DISEASE
  TANGIER DISEASE, VARIANT
47
39
15
6
65
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

SunT - COG2274
MdlB - COG1132
ATM1 - COG5265
CydD - COG4988
CydC - COG4987
ModF - COG1119
COG4181 - COG4181
MglA - COG1129
COG4674 - COG4674
PhnK - COG4107
Ttg2A - COG1127
ProV - COG4175
ABCC_NFT1 - cd03369
PstB - COG1117
ABCC_TAP - cd03248
YhbG - COG1137
HisP - COG4598
PotA - COG3842
AppF - COG4608
COG1123 - COG1123
ZnuC - COG1121
COG3845 - COG3845
SapF - COG4167
ABC_Carb_Monos_II - cd03215
COG3638 - COG3638
COG4619 - COG4619
DppF - COG1124
TauB - COG1116
Uup - COG0488
ABCG_EPDR - cd03213
CbiO - COG1122
TagH - COG1134
MalK - COG3839
COG4152 - COG4152
CcmA - COG4133
ArtP - COG4161
FepC - COG1120
ABC_CysA_sulfate_imp - cd03296
CysA - COG1118
GlnQ - COG1126
CcmA - COG1131
LivG - COG0411
FtsE - COG2884
ABCC_CFTR2 - cd03289
ABC_NikE_OppD_transp - cd03257
ABCC_MRP_domain2 - cd03244
ABC_MetN_methionine_ - cd03258
OpuBA - COG1125
DppD - COG0444
COG4559 - COG4559
AbcC - COG1135
SalX - COG1136
ABC_PotA_N - cd03300
ABC_Pro_Gly_Betaine - cd03294
ABC_ModC_like - cd03299
ABC_NrtD_SsuB_transp - cd03293
ABCC_SUR1_N - cd03290
ABC_FtsE_transporter - cd03292
NatA - COG4555
ABC_putative_ATPase - cd03269
CeuD - COG4604
COG4136 - COG4136
PhnK - COG1101
LivF - COG0410
ABC_OpuCA_Osmoprotec - cd03295
ABC_MalK_N - cd03301
ABCG_White - cd03234
ABCD_peroxisomal_ALD - cd03223
ABCC_Hemolysin - cd03252
ABCC_Protease_Secret - cd03246
ABCC_cytochrome_bd - cd03247
ABC_CcmA_heme_export - cd03231
ABC_PstB_phosphate_t - cd03260
ABCC_ATM1_transporte - cd03253
ABCC_MRP_Like - cd03228
ABC_DR_subfamily_A - cd03230
ABC_MJ0796_LolCDE_Ft - cd03255
ABC_Carb_Solutes_lik - cd03259
ABC_RNaseL_inhibitor - cd03222
ABC_Mj1267_LivG_bran - cd03219
ABC_TM1139_LivF_bran - cd03224
ABC_Org_Solvent_Resi - cd03261
ABC_KpsT_Wzt - cd03220
ABC_YhbG - cd03218
ABC_Carb_Monos_I - cd03216
ABC_FeS_Assembly - cd03217
ABCC_bacteriocin_exp - cd03245
ABCC_MRP_domain1 - cd03250
ABCC_Glucan_exporter - cd03254
ABC_NatA_sodium_expo - cd03266
ABC_NatA_like - cd03267
ABC_drug_resistance_ - cd03264
ABC_subfamily_A - cd03263
ABCF_EF-3 - cd03221
ABC_PhnC_transporter - cd03256
ABC_DrrA - cd03265
ABC_Class3 - cd03229
ABC_BcrA_bacitracin_ - cd03268
ABC_MTABC3_MDL1_MDL2 - cd03249
ABC_HisP_GlnQ - cd03262
ABCC_MsbA - cd03251
ABC_ATPase - cd00267
ABC_Iron-Siderophore - cd03214
sufC - COG0396
ABC_cobalt_CbiO_doma - cd03226
ABC_Metallic_Cations - cd03235
ABC_cobalt_CbiO_doma - cd03225
BtuD - COG4138
ABC_ThiQ_thiamine_tr - cd03298
ABC_Class2 - cd03227
ABC_ModC_molybdenum_ - cd03297
TauB - COG4525
ThiQ - COG3840
AAA - smart00382
ABC_tran - pfam00005
COG4586 - COG4586
PhnL - COG4778
ABCG_PDR_domain2 - cd03232
ABCG_PDR_domain1 - cd03233


Swiss-Prot Protein: O95477
Identical to: NP_005493
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ModFCOG11193.9e-138701115
MglACOG11296e-098881273
Ttg2ACOG11271.5e-168891146
ABCC_TAPcd032489.7e-078921109
ABCC_NFT1cd033693.3e-058921115
PstBCOG11176e-108921132
YhbGCOG11371.1e-148921130
ABC_Carb_Monos_IIcd032159.6e-158951109
COG1123COG11232.2e-088951303
ZnuCCOG11211.4e-178951146
ABCG_EPDRcd032134.7e-138961113
UupCOG04880.000128961339
TauBCOG11167e-148961145
DppFCOG11242.3e-118961142
CbiOCOG11224.2e-388961125
TagHCOG11344.8e-098961138
ABC_CysA_sulfate_impcd032964.2e-188971124
CysACOG11181.7e-098971225
FepCCOG11206.3e-158971147
GlnQCOG11262e-118971132
ABCC_MRP_domain2cd032448.7e-128981115
ABC_MetN_methionine_cd032581.3e-158981121
ABC_NikE_OppD_transpcd032571.6e-178981113
ABCC_CFTR2cd032890.000288981167
LivGCOG04112.3e-158981124
DppDCOG04441.9e-118981174
OpuBACOG11252.3e-148981204
CcmACOG11318.1e-878981224
SalXCOG11364.2e-248981116
AbcCCOG11356.4e-118981234
ABC_Carb_Monos_Icd032167.1e-228991112
ABC_FeS_Assemblycd032176.2e-088991127
ABC_YhbGcd032181.7e-138991129
ABC_KpsT_Wztcd032203e-128991113
ABC_RNaseL_inhibitorcd032220.000478991136
ABC_Mj1267_LivG_brancd032192e-188991115
ABC_TM1139_LivF_brancd032241.3e-188991120
ABCD_peroxisomal_ALDcd032230.00018991109
ABCC_MRP_Likecd032283.4e-308991108
ABC_DR_subfamily_Acd032301.3e-858991109
ABC_CcmA_heme_exportcd032313.8e-088991108
ABCG_Whitecd032345.3e-118991113
ABCC_cytochrome_bdcd032471e-118991113
ABCC_MsbAcd032511.2e-088991131
ABC_MTABC3_MDL1_MDL2cd032497.5e-088991134
ABCC_MRP_domain1cd032501.9e-068991108
ABCC_Glucan_exportercd032544e-098991123
ABCC_ATM1_transportecd032531.1e-088991134
ABCC_Hemolysincd032521.1e-078991134
ABCC_Protease_Secretcd032461.1e-088991109
ABC_MJ0796_LolCDE_Ftcd032556.1e-308991109
ABC_Carb_Solutes_likcd032597.1e-308991113
ABC_PstB_phosphate_tcd032609.7e-148991118
ABC_Org_Solvent_Resicd032611.9e-188991126
ABC_HisP_GlnQcd032621.7e-138991109
ABC_subfamily_Acd032633.5e-1318991119
ABC_drug_resistance_cd032643.4e-448991113
ABC_NatA_likecd032674.8e-138991113
ABC_NatA_sodium_expocd032661.2e-358991113
ABCF_EF-3cd032214.6e-098991108
ABC_PhnC_transportercd032563.2e-148991127
ABC_BcrA_bacitracin_cd032683.4e-338991113
ABC_Class3cd032293.2e-428991108
ABC_DrrAcd032651.5e-548991119
ABCC_bacteriocin_expcd032457.1e-138991113
ABC_putative_ATPasecd032694.9e-198991113
ABCC_SUR1_Ncd032900.000368991108
ABC_FtsE_transportercd032922.6e-158991109
ABC_NrtD_SsuB_transpcd032931.5e-228991114
ABC_Pro_Gly_Betainecd032947.5e-148991126
ABC_ModC_likecd032998.1e-138991127
ABC_PotA_Ncd033005.5e-148991123
ABC_MalK_Ncd033014e-138991113
ABC_OpuCA_Osmoproteccd032952.4e-158991137
LivFCOG04102.1e-158991130
PhnKCOG11012.2e-108991139
ABC_ATPasecd002671.3e-639001108
ABC_cobalt_CbiO_domacd032253.9e-459001108
ABC_cobalt_CbiO_domacd032263.8e-129001110
ABC_Metallic_Cationscd032353.1e-179001113
ABC_Iron-Siderophorecd032144.3e-249001113
sufCCOG03963.5e-089001135
ABC_ThiQ_thiamine_trcd032983.1e-099031113
ABC_ModC_molybdenum_cd032979.5e-099061113
ABC_Class2cd032274.2e-059061108
CcmACOG11318.5e-7819082223
ZnuCCOG11211.3e-1119082155
ABCG_PDR_domain2cd032321.8e-0619092120
CbiOCOG11223.9e-1219092134
FepCCOG11207.7e-1319102158
ABCG_PDR_domain1cd032332.1e-0519112126
ABC_NikE_OppD_transpcd032578.6e-1319112126
ABC_NatA_sodium_expocd032665e-2119112126
ABC_Carb_Monos_Icd032163.4e-1519122125
ABC_Mj1267_LivG_brancd032191e-1519122137
ABCC_MRP_Likecd032282.9e-1219122121
ABC_DR_subfamily_Acd032302.8e-7019122122
ABC_MJ0796_LolCDE_Ftcd032555.9e-1519122122
ABC_Carb_Solutes_likcd032591.1e-1319122126
ABC_subfamily_Acd032631.5e-13319122132
ABC_drug_resistance_cd032642e-3019122126
ABC_BcrA_bacitracin_cd032683.2e-2519122126
ABC_Class3cd032291.3e-1219122121
ABC_DrrAcd032651e-4719122132
ABC_putative_ATPasecd032692.9e-1719122126
ABC_CysA_sulfate_impcd032967e-0819122148
ABC_ATPasecd002671.1e-5119132121
ABC_cobalt_CbiO_domacd032252.5e-2219132121
ABC_cobalt_CbiO_domacd032261.7e-1019132123
ABC_Metallic_Cationscd032351.1e-1119132126
ABC_Iron-Siderophorecd032142.6e-1719132126
SunTCOG22740.000754801135
ATM1COG52650.00076271133
CydDCOG49881.7e-086391144
CydCCOG49870.000366401134
PhnKCOG41071.3e-058881137
COG4181COG41817.5e-098881112
COG4674COG46745.3e-098881127
ProVCOG41757e-078911204
HisPCOG45986e-078931127
PotACOG38421.5e-128941232
COG3845COG38451.5e-078951269
SapFCOG41670.000118951140
AppFCOG46083e-118951154
COG3638COG36386.1e-128961141
MalKCOG38392.6e-158961228
COG4619COG46191.1e-088961120
COG4152COG41522.3e-138971210
ArtPCOG41611.1e-088971132
CcmACOG41337.2e-128971112
FtsECOG28841.9e-128981117
COG4559COG45595.1e-068981140
COG4136COG41364.1e-058991107
NatACOG45555.6e-418991139
CeuDCOG46044.4e-098991114
BtuDCOG41383.7e-069021145
TauBCOG45256.6e-109121139
ThiQCOG38408.6e-099131132
ABC_tranpfam000057.7e-389401061
COG4586COG45866.1e-1118992221
PhnKCOG41070.000319052150
PhnLCOG47784.6e-0619082124
NatACOG45552.4e-2119112153
ArtPCOG41612.3e-0719122145
ABC_tranpfam000053.5e-1619532073
AAAsmart003821.2e-099251108
AAAsmart003825.4e-0719382123

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012627Diseasep.ALA1046ASPHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_035726Polymorphismp.ALA1407THRN/A
Swiss-ProtVAR_062499Polymorphismp.ALA1670THRN/A
Swiss-ProtVAR_035727Polymorphismp.ALA2109THRN/A
Swiss-ProtVAR_012620Diseasep.ALA255THRHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_009151Diseasep.ALA937VALHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062493Diseasep.ARG1068CYSHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_012619Diseasep.ARG230CYSHigh density lipoprotein deficiency 2 (HDLD2)
Swiss-ProtVAR_062498Polymorphismp.ARG1615GLNN/A
Swiss-ProtVAR_062500Polymorphismp.ARG1680GLNN/A
Swiss-ProtVAR_062502Diseasep.ARG1851GLNHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062505Polymorphismp.ARG1925GLNN/A
Swiss-ProtVAR_062488Polymorphismp.ARG638GLNN/A
dbSNPrs2230806 Polymorphismp.ARG219LYSN/A
Swiss-ProtVAR_062504Diseasep.ARG1901SERHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062495Polymorphismp.ARG1341THRN/A
Swiss-ProtVAR_037970Diseasep.ARG1680TRPHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062503Polymorphismp.ARG1897TRPN/A
Swiss-ProtVAR_012635Diseasep.ARG2081TRPHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062486Polymorphismp.ARG496TRPN/A
Swiss-ProtVAR_009146Diseasep.ARG587TRPHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_012632Polymorphismp.ASN1611ASPN/A
Swiss-ProtVAR_009155Diseasep.ASN1800HISHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_037968Diseasep.ASN935HISHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_009150Diseasep.ASN935SERHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_009152Diseasep.ASP1289ASNHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062508Polymorphismp.ASP2243GLUN/A
Swiss-ProtVAR_017530Diseasep.ASP1099TYRHigh density lipoprotein deficiency 2 (HDLD2)
Swiss-ProtVAR_035725Polymorphismp.ASP917TYRN/A
Swiss-ProtVAR_009153Diseasep.CYS1477ARGHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_009148Diseasep.GLN597ARGHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062507Diseasep.GLN2196HISHigh density lipoprotein deficiency 1 (HDLD1)
dbSNPrs33918808 Polymorphismp.GLU1172ASPN/A
Swiss-ProtVAR_035724Polymorphismp.GLU210ASPN/A
Swiss-ProtVAR_062490Polymorphismp.GLU815GLYN/A
Swiss-ProtVAR_062482Diseasep.GLU284LYSHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062494Polymorphismp.GLY1216VALN/A
Swiss-ProtVAR_009154Diseasep.ILE1517ARGHigh density lipoprotein deficiency 1 (HDLD1)
dbSNPrs2066714 Polymorphismp.ILE883METN/A
Swiss-ProtVAR_012638Polymorphismp.ILE1555THRN/A
Swiss-ProtVAR_062497Diseasep.LEU1379PHEHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_012639Polymorphismp.LEU1648PRON/A
Swiss-ProtVAR_012637Polymorphismp.LEU2168PRON/A
dbSNPrs2230808 Polymorphismp.LYS1587ARGN/A
Swiss-ProtVAR_012623Polymorphismp.LYS776ASNN/A
Swiss-ProtVAR_062484Polymorphismp.LYS401GLNN/A
Swiss-ProtVAR_012628Diseasep.MET1091THRHigh density lipoprotein deficiency 2 (HDLD2)
Swiss-ProtVAR_037971Diseasep.PHE2009SERHigh density lipoprotein deficiency 2 (HDLD2)
Swiss-ProtVAR_062506Polymorphismp.PHE2163SERN/A
Swiss-ProtVAR_062481Polymorphismp.PRO248ALAN/A
Swiss-ProtVAR_012636Diseasep.PRO2150LEUHigh density lipoprotein deficiency 2 (HDLD2)
Swiss-ProtVAR_017529Diseasep.PRO85LEUHigh density lipoprotein deficiency 2 (HDLD2)
Swiss-ProtVAR_062492Polymorphismp.PRO1065SERN/A
Swiss-ProtVAR_012633Polymorphismp.SER1731CYSN/A
Swiss-ProtVAR_062483Polymorphismp.SER364CYSN/A
Swiss-ProtVAR_062496Polymorphismp.SER1376GLYN/A
Swiss-ProtVAR_012630Diseasep.SER1506LEUHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_017016Polymorphismp.SER1181PHEN/A
Swiss-ProtVAR_012626Diseasep.THR929ILEHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_012622Polymorphismp.THR774PRON/A
Swiss-ProtVAR_062489Polymorphismp.THR774SERN/A
Swiss-ProtVAR_062491Diseasep.TRP840ARGHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062487Diseasep.TRP590LEUHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_009147Diseasep.TRP590SERHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_062485Diseasep.TYR482CYSHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_009145Polymorphismp.VAL399ALAN/A
Swiss-ProtVAR_062501Diseasep.VAL1704ASPHigh density lipoprotein deficiency 1 (HDLD1)
Swiss-ProtVAR_037969Polymorphismp.VAL1054ILEN/A
Swiss-ProtVAR_062509Polymorphismp.VAL2244ILEN/A
dbSNPrs2066715 Polymorphismp.VAL825ILEN/A
dbSNPrs2066718 Polymorphismp.VAL771METN/A
OMIM600046.0007 Diseasep.ALA877VALTANGIER DISEASE
OMIM600046.0024 Diseasep.ARG219LYSCORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION||AGAINST
OMIM600046.0017 Diseasep.ARG1680TRPTANGIER DISEASE, VARIANT
OMIM600046.0021 Diseasep.ARG2021TRPTANGIER DISEASE
OMIM600046.0015 Diseasep.ASN935HISTANGIER DISEASE
OMIM600046.0006 Diseasep.ASN875SERTANGIER DISEASE
OMIM600046.0014 Diseasep.ASN935SERTANGIER DISEASE
OMIM600046.0020 Diseasep.ASP1229ASNTANGIER DISEASE
OMIM600046.0018 Diseasep.ASP1099TYRHIGH DENSITY LIPOPROTEIN DEFICIENCY
OMIM600046.0001 Diseasep.CYS1417ARGTANGIER DISEASE
OMIM600046.0003 Diseasep.GLN537ARGTANGIER DISEASE
OMIM600046.0019 Diseasep.PHE2009SERHIGH DENSITY LIPOPROTEIN DEFICIENCY
OMIM600046.0013 Diseasep.SER1446LEUTANGIER DISEASE
OMIM600046.0008 Diseasep.TRP530SERTANGIER DISEASE
OMIM600046.0023 Diseasep.TYR573TERTANGIER DISEASE



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