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Results for the Protein: Q86UK0
269849713

ABCAC_HUMAN RecName: Full=ATP-binding cassette sub-family A member 12; AltName: Full=ATP-binding cassette transporter 12; Short=ATP-binding cassette 12

Known Diseases associated with this Protein:
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (ARCI4A)
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (ARCI4B)
24
12
9
7
20
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

SunT - COG2274
MdlB - COG1132
CydD - COG4988
ModF - COG1119
ProV - COG4175
COG4181 - COG4181
COG4674 - COG4674
Ttg2A - COG1127
PhnK - COG4107
MglA - COG1129
YhbG - COG1137
PstB - COG1117
ABCC_TAP - cd03248
sufC - COG0396
PotA - COG3842
HisP - COG4598
ZnuC - COG1121
ABC_Carb_Monos_II - cd03215
COG3845 - COG3845
AppF - COG4608
TauB - COG1116
ABCG_EPDR - cd03213
Uup - COG0488
LivG - COG0411
MalK - COG3839
CbiO - COG1122
COG3638 - COG3638
COG4136 - COG4136
ArtP - COG4161
CcmA - COG4133
GlnQ - COG1126
ABC_CysA_sulfate_imp - cd03296
FepC - COG1120
COG4559 - COG4559
ABCG_PDR_domain1 - cd03233
FtsE - COG2884
ThiQ - COG3840
ABC_MetN_methionine_ - cd03258
OpuBA - COG1125
CcmA - COG1131
SalX - COG1136
ABC_NikE_OppD_transp - cd03257
ABC_MalK_N - cd03301
ABC_ThiQ_thiamine_tr - cd03298
ABC_PotA_N - cd03300
ABC_NrtD_SsuB_transp - cd03293
LivF - COG0410
ABC_FtsE_transporter - cd03292
NatA - COG4555
CeuD - COG4604
ABC_Pro_Gly_Betaine - cd03294
ABC_OpuCA_Osmoprotec - cd03295
ABCC_Hemolysin - cd03252
ABC_PhnC_transporter - cd03256
ABC_MJ0796_LolCDE_Ft - cd03255
ABCC_ATM1_transporte - cd03253
ABCC_MsbA - cd03251
ABC_PstB_phosphate_t - cd03260
ABC_MTABC3_MDL1_MDL2 - cd03249
ABC_subfamily_A - cd03263
ABC_drug_resistance_ - cd03264
ABCF_EF-3 - cd03221
ABCC_cytochrome_bd - cd03247
ABCC_bacteriocin_exp - cd03245
ABC_YhbG - cd03218
ABC_FeS_Assembly - cd03217
ABC_Carb_Monos_I - cd03216
ABC_Mj1267_LivG_bran - cd03219
ABC_RNaseL_inhibitor - cd03222
ABCC_MRP_Like - cd03228
ABC_DR_subfamily_A - cd03230
ABC_TM1139_LivF_bran - cd03224
ABC_Class3 - cd03229
ABC_DrrA - cd03265
ABC_BcrA_bacitracin_ - cd03268
ABC_NatA_sodium_expo - cd03266
ABC_Carb_Solutes_lik - cd03259
ABC_putative_ATPase - cd03269
ABC_HisP_GlnQ - cd03262
ABC_Org_Solvent_Resi - cd03261
ABC_cobalt_CbiO_doma - cd03226
ABC_Metallic_Cations - cd03235
ABCG_White - cd03234
ABC_cobalt_CbiO_doma - cd03225
ABC_ATPase - cd00267
ABC_Iron-Siderophore - cd03214
ABCC_Glucan_exporter - cd03254
ABC_Class2 - cd03227
BtuD - COG4138
ABCC_MRP_domain2 - cd03244
ABCC_NFT1 - cd03369
ABC_ModC_like - cd03299
AAA - smart00382
ABC_tran - pfam00005
COG1123 - COG1123
COG4586 - COG4586
TagH - COG1134
ABCD_peroxisomal_ALD - cd03223
TauB - COG4525
ABCC_MRP_domain1 - cd03250
ABCG_PDR_domain2 - cd03232
PhnL - COG4778
DppF - COG1124
SapD - COG4170
COG4152 - COG4152
AbcC - COG1135
PhnK - COG1101
SapF - COG4167
ABC_KpsT_Wzt - cd03220
ABC_NatA_like - cd03267
ABCC_Protease_Secret - cd03246
ABCC_SUR1_N - cd03290
COG4619 - COG4619
DppD - COG0444
CysA - COG1118
ABC_RNaseL_inhibitor - cd03236
ABC_ModC_molybdenum_ - cd03297
ABC_CcmA_heme_export - cd03231


Swiss-Prot Protein: Q86UK0
Identical to: NP_775099
   Default View:
































































































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MdlBCOG11329.3e-069791578
ModFCOG11191.4e-1413041561
Ttg2ACOG11277.5e-1413341593
MglACOG11293.1e-0613381691
ABCC_TAPcd032489.6e-0713391555
PstBCOG11174.2e-0913391569
YhbGCOG11376.1e-1513391574
sufCCOG03965.7e-0913401580
ABC_Carb_Monos_IIcd032152e-1113421555
ZnuCCOG11211.5e-2213421587
ABCG_EPDRcd032139e-1413431559
LivGCOG04113.8e-1713431560
UupCOG04880.0004613431781
TauBCOG11161.5e-1313431581
CbiOCOG11223.8e-3313431592
ABC_CysA_sulfate_impcd032962.7e-1713441579
FepCCOG11204.1e-2213441589
GlnQCOG11263e-1213441573
ABCG_PDR_domain1cd032333.5e-0613451553
ABC_MetN_methionine_cd032587.9e-1313451562
ABC_NikE_OppD_transpcd032572.6e-1413451559
OpuBACOG11257.2e-1113451638
SalXCOG11364.9e-1513451562
CcmACOG11313.7e-7713451667
ABC_Carb_Monos_Icd032169e-1813461558
ABC_FeS_Assemblycd032172.8e-0913461572
ABC_YhbGcd032184.6e-1413461569
ABC_Mj1267_LivG_brancd032193.8e-2013461561
ABC_RNaseL_inhibitorcd032223.2e-0513461577
ABC_TM1139_LivF_brancd032242.7e-1713461567
ABC_DR_subfamily_Acd032302.3e-7713461555
ABCC_MRP_Likecd032283.8e-2013461554
ABCC_bacteriocin_expcd032451e-1113461559
ABCC_cytochrome_bdcd032471.3e-1013461559
ABCC_MsbAcd032512.8e-0913461575
ABCC_ATM1_transportecd032531.2e-0713461579
ABC_MJ0796_LolCDE_Ftcd032553.5e-1513461555
ABC_PhnC_transportercd032566.5e-1413461572
ABC_PstB_phosphate_tcd032606.3e-1313461564
ABC_MTABC3_MDL1_MDL2cd032491.4e-0613461580
ABCF_EF-3cd032217.2e-0913461554
ABC_drug_resistance_cd032641.2e-3313461559
ABC_subfamily_Acd032631.2e-11013461565
ABC_DrrAcd032652e-5213461565
ABC_NatA_sodium_expocd032663.4e-2513461559
ABC_BcrA_bacitracin_cd032684e-3513461559
ABC_putative_ATPasecd032693.7e-1813461559
ABC_Carb_Solutes_likcd032593.9e-2413461559
ABC_HisP_GlnQcd032621.3e-1513461555
ABC_Org_Solvent_Resicd032614.3e-1613461572
ABC_Class3cd032295.2e-3413461554
ABCC_Hemolysincd032521.4e-0713461580
ABC_FtsE_transportercd032923.8e-1213461555
ABC_ThiQ_thiamine_trcd032987.4e-0913461559
ABC_NrtD_SsuB_transpcd032931.6e-1913461555
ABC_MalK_Ncd033011e-1213461559
ABC_PotA_Ncd033002.5e-1513461569
ABC_OpuCA_Osmoproteccd032953.2e-1313461574
ABC_Pro_Gly_Betainecd032947.5e-1313461576
LivFCOG04102e-1413461576
ABC_ATPasecd002677.8e-5913471554
ABC_Iron-Siderophorecd032146.5e-2913471559
ABC_cobalt_CbiO_domacd032253.3e-4213471554
ABC_cobalt_CbiO_domacd032265.4e-1413471556
ABC_Metallic_Cationscd032358.5e-1813471559
ABCG_Whitecd032342.9e-1113471559
ABCC_Glucan_exportercd032541.7e-0913501569
ABC_Class2cd032276.9e-0513511556
ABCC_MRP_domain2cd032443.8e-0913571561
ABCC_NFT1cd033697.4e-0513581561
ABC_ModC_likecd032991.4e-1013591575
COG1123COG11234.9e-0820882482
TagHCOG11342.3e-0922342491
ABCD_peroxisomal_ALDcd032230.000322372467
ABCC_MRP_domain1cd032503.7e-0722422466
ABCG_PDR_domain2cd032322.7e-0622462471
ABCG_Whitecd032341.7e-0922462471
ABCG_EPDRcd032132.1e-1122482471
ZnuCCOG11212.9e-1322502498
CcmACOG11312e-7322502568
DppFCOG11245.4e-1122512495
ABC_NatA_sodium_expocd032663.6e-2222532471
ABC_NikE_OppD_transpcd032573.4e-1422532471
PhnKCOG11012e-0722532507
SalXCOG11363.8e-1322532474
AbcCCOG11352.2e-0922532564
ABC_Carb_Monos_Icd032161.8e-1722542472
ABC_YhbGcd032181.6e-1322542481
ABC_KpsT_Wztcd032201.7e-1422542471
ABC_Mj1267_LivG_brancd032192.2e-1522542486
ABC_DR_subfamily_Acd032307.4e-6922542467
ABCC_MRP_Likecd032285.8e-1322542466
ABC_MJ0796_LolCDE_Ftcd032552.7e-1222542467
ABC_PstB_phosphate_tcd032606.9e-1122542476
ABCF_EF-3cd032211.2e-0722542466
ABC_drug_resistance_cd032641.1e-3122542471
ABC_subfamily_Acd032631e-11122542477
ABC_DrrAcd032654e-3422542477
ABC_NatA_likecd032673.5e-1422542469
ABC_BcrA_bacitracin_cd032682e-2322542471
ABC_putative_ATPasecd032692.5e-1822542471
ABC_Carb_Solutes_likcd032595.1e-1522542471
ABC_Class3cd032292.3e-1922542466
ABC_NrtD_SsuB_transpcd032938e-1622542475
ABC_MalK_Ncd033011.2e-1022542471
ABC_CysA_sulfate_impcd032962.4e-1422542487
CbiOCOG11225.9e-1622542479
ABC_ATPasecd002671.2e-5322552466
ABCC_Protease_Secretcd032463.1e-0722562467
ABCC_SUR1_Ncd032900.00122572466
DppDCOG04445.1e-0922582524
ABC_cobalt_CbiO_domacd032251.3e-2722592466
ABC_cobalt_CbiO_domacd032265.2e-1322592468
FepCCOG11209.8e-1222602502
ABC_Metallic_Cationscd032359.5e-1222612471
ABC_Iron-Siderophorecd032142.1e-1322622471
CysACOG11186.7e-1222622575
ABC_RNaseL_inhibitorcd032360.0001322652498
ABC_ModC_molybdenum_cd032977e-1122662471
ABC_CcmA_heme_exportcd032318.2e-0822702464
SunTCOG22740.000599311579
CydDCOG49882e-0710561579
COG4181COG41814e-0613301556
ProVCOG41754.4e-0613301683
COG4674COG46746.4e-0913321569
PhnKCOG41070.0001413351583
PotACOG38422.8e-1113411659
HisPCOG45985.5e-0813411585
COG3845COG38451.1e-0613421750
AppFCOG46082.5e-0913421615
COG3638COG36388.3e-1313431580
MalKCOG38397.3e-1413431641
CcmACOG41332.3e-0913441556
COG4136COG41361.1e-0613441553
ArtPCOG41616.3e-1413441578
FtsECOG28846.1e-1013451563
ThiQCOG38401.1e-0613451581
COG4559COG45591.5e-0513451593
NatACOG45556.8e-3213461585
CeuDCOG46049.8e-0813461579
BtuDCOG41382.2e-0513511579
ABC_tranpfam000058.9e-2313851507
COG4586COG45863.1e-1222292557
TauBCOG45251.6e-0822392507
PhnKCOG41070.0004922482492
PhnLCOG47782.2e-0822502469
SapDCOG41700.0007822512530
COG4152COG41525e-1522522571
SapFCOG41671.3e-0622532493
NatACOG45555e-2722532495
ArtPCOG41613.4e-1222562492
COG4619COG46193e-0722572478
ABC_tranpfam000058.4e-2222972418
AAAsmart003821.3e-1013701554
AAAsmart003822e-0922822467

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062663Polymorphismp.ALA476VALN/A
Swiss-ProtVAR_027447Polymorphismp.ARG1546CYSN/A
dbSNPrs11891778 Polymorphismp.ARG287GLYN/A
Swiss-ProtVAR_019600Diseasep.ARG1514HISIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
dbSNPrs11890512 Polymorphismp.ASN237HISN/A
Swiss-ProtVAR_019598Diseasep.ASN1380SERIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
dbSNPrs726070 Polymorphismp.ASP2365ASNN/A
Swiss-ProtVAR_027449Diseasep.ASP2365ASNIchthyosis, congenital, autosomal recessive 4B (ARCI4B)
dbSNPrs11890468 Polymorphismp.GLN274ARGN/A
dbSNPrs16853149 Polymorphismp.GLU550GLYN/A
Swiss-ProtVAR_019601Diseasep.GLU1539LYSIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_027448Polymorphismp.GLU2064LYSN/A
Swiss-ProtVAR_067078Diseasep.GLY1179ARGIchthyosis, congenital, autosomal recessive 4B (ARCI4B)
Swiss-ProtVAR_067077Diseasep.GLY1136ASPIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
dbSNPrs13414448 Polymorphismp.GLY1251ASPN/A
Swiss-ProtVAR_019599Diseasep.GLY1381GLUIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_019602Diseasep.GLY1651SERIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_067081Diseasep.GLY1559VALIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_067080Diseasep.ILE1494THRIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_067082Diseasep.PRO1798LEUIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_067076Diseasep.SER387ASNIchthyosis, congenital, autosomal recessive 4B (ARCI4B)
Swiss-ProtVAR_019597Polymorphismp.SER459THRN/A
Swiss-ProtVAR_027445Polymorphismp.SER777THRN/A
Swiss-ProtVAR_067083Diseasep.THR1980LYSIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
Swiss-ProtVAR_067075Diseasep.THR345PROIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
dbSNPrs16853238 Polymorphismp.TRP199CYSN/A
Swiss-ProtVAR_067079Diseasep.TRP1235SERIchthyosis, congenital, autosomal recessive 4A (ARCI4A)
OMIM607800.0004 Diseasep.ARG1514HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
OMIM607800.0009 Diseasep.ARG2203TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
OMIM607800.0012 Diseasep.ARG287TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
OMIM607800.0002 Diseasep.ASN1380SERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
OMIM607800.0008 Diseasep.ASP2363ASNICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
OMIM607800.0005 Diseasep.GLU1539LYSICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
OMIM607800.0010 Diseasep.GLY1179ARGICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
OMIM607800.0001 Diseasep.GLY1381GLUICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
OMIM607800.0003 Diseasep.GLY1651SERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A



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