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Results for the Protein: Q9NP58
13123949

ABCB6_HUMAN RecName: Full=ATP-binding cassette sub-family B member 6, mitochondrial; AltName: Full=Mitochondrial ABC transporter 3; Short=Mt-ABC transporter 3; AltName: Full=P-glycoprotein-related protein; AltName: Full=Ubiquitously-expressed mammalian ABC half transporter

Known Diseases associated with this Protein:
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA, 7 (MCOPCB7)
9
5
7
2
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

SunT - COG2274
COG4178 - COG4178
ArpD - COG4618
MdlB - COG1132
ABC_membrane - pfam00664
CydD - COG4988
CydC - COG4987
PvdE - COG4615
ATM1 - COG5265
Uup - COG0488
COG1123 - COG1123
COG4172 - COG4172
ABCC_SUR2 - cd03288
ABCC_CFTR1 - cd03291
ModF - COG1119
COG4586 - COG4586
Ttg2A - COG1127
ABCC_TAP - cd03248
PhnK - COG4107
PstB - COG1117
COG4674 - COG4674
COG4181 - COG4181
PhnL - COG4778
HisP - COG4598
AppF - COG4608
PotA - COG3842
ZnuC - COG1121
ABCC_NFT1 - cd03369
ABC_Carb_Monos_II - cd03215
MglA - COG1129
CcmA - COG1131
ProV - COG4175
YhbG - COG1137
SapF - COG4167
TagH - COG1134
LivF - COG0410
LivG - COG0411
sufC - COG0396
ABCG_White - cd03234
ABCG_EPDR - cd03213
ABCG_PDR_domain2 - cd03232
TauB - COG1116
CbiO - COG1122
MalK - COG3839
COG3638 - COG3638
DppF - COG1124
COG4152 - COG4152
COG4136 - COG4136
TauB - COG4525
ABCC_Glucan_exporter - cd03254
ABCC_MRP_domain2 - cd03244
ABCG_PDR_domain1 - cd03233
ABCC_bacteriocin_exp - cd03245
ABCC_CFTR2 - cd03289
FepC - COG1120
CysA - COG1118
GlnQ - COG1126
OpuBA - COG1125
DppD - COG0444
AbcC - COG1135
ABC_CysA_sulfate_imp - cd03296
ABC_MetN_methionine_ - cd03258
ABC_RNaseL_inhibitor - cd03236
ABC_NikE_OppD_transp - cd03257
FtsE - COG2884
SalX - COG1136
COG4559 - COG4559
ArtP - COG4161
ThiQ - COG3840
ABC_MalK_N - cd03301
ABC_PotA_N - cd03300
PhnK - COG1101
CcmA - COG4133
CeuD - COG4604
NatA - COG4555
ABC_ModC_like - cd03299
BtuD - COG4138
COG4619 - COG4619
ABC_Org_Solvent_Resi - cd03261
ABCC_MsbA - cd03251
ABCC_MRP_domain1 - cd03250
ABC_MTABC3_MDL1_MDL2 - cd03249
ABCC_cytochrome_bd - cd03247
ABCC_ATM1_transporte - cd03253
ABCC_Hemolysin - cd03252
ABC_ThiQ_thiamine_tr - cd03298
ABC_Carb_Solutes_lik - cd03259
ABC_MJ0796_LolCDE_Ft - cd03255
ABC_PhnC_transporter - cd03256
ABCC_Protease_Secret - cd03246
ABCD_peroxisomal_ALD - cd03223
ABC_KpsT_Wzt - cd03220
ABC_YhbG - cd03218
ABC_FeS_Assembly - cd03217
ABC_Carb_Monos_I - cd03216
ABCF_EF-3 - cd03221
ABC_TM1139_LivF_bran - cd03224
ABC_DR_subfamily_A - cd03230
ABC_Class3 - cd03229
ABCC_MRP_Like - cd03228
ABC_Mj1267_LivG_bran - cd03219
ABC_HisP_GlnQ - cd03262
ABC_PstB_phosphate_t - cd03260
ABC_NrtD_SsuB_transp - cd03293
ABCC_SUR1_N - cd03290
ABC_OpuCA_Osmoprotec - cd03295
ABC_subfamily_A - cd03263
ABC_Pro_Gly_Betaine - cd03294
ABC_NatA_sodium_expo - cd03266
ABC_FtsE_transporter - cd03292
ABC_putative_ATPase - cd03269
ABC_drug_resistance_ - cd03264
ABC_NatA_like - cd03267
ABC_DrrA - cd03265
ABC_BcrA_bacitracin_ - cd03268
ABC_cobalt_CbiO_doma - cd03226
ABC_Metallic_Cations - cd03235
ABC_Iron-Siderophore - cd03214
ABC_cobalt_CbiO_doma - cd03225
ABC_ATPase - cd00267
ABC_ModC_molybdenum_ - cd03297
ModC - COG4148
ABC_UvrA_II - cd03271
ABC_UvrA - cd03238
ABC_Class2 - cd03227
ABC_CcmA_heme_export - cd03231
AAA - smart00382
ABC_tran - pfam00005


Swiss-Prot Protein: Q9NP58
Identical to: NP_005680
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MdlBCOG11322.9e-184243828
UupCOG04885.7e-05348818
COG1123COG11231.6e-11365819
ABCC_SUR2cd032884.4e-28517826
ABCC_CFTR1cd032911.5e-09556842
ModFCOG11192.7e-13560808
Ttg2ACOG11273.1e-13578839
ABCC_TAPcd032483.3e-62581802
PstBCOG11173.3e-13583818
ABC_Carb_Monos_IIcd032155.6e-11586802
ABCC_NFT1cd033696e-32586808
ZnuCCOG11218.6e-13586836
MglACOG11290.00026586842
CcmACOG11319.5e-29586842
YhbGCOG11373.1e-09586824
ABCG_EPDRcd032131.5e-16587806
ABCG_PDR_domain2cd032322.6e-07587806
ABCG_Whitecd032342.8e-09587806
sufCCOG03961e-09587821
LivFCOG04103.6e-15587816
LivGCOG04111.9e-11587810
TauBCOG11161.6e-14587831
CbiOCOG11222e-35587833
DppFCOG11243.2e-22587835
TagHCOG11342e-07587829
ABCG_PDR_domain1cd032332.3e-06588806
ABCC_MRP_domain2cd032442.7e-62588808
ABCC_bacteriocin_expcd032456.1e-64588806
ABCC_Glucan_exportercd032541.6e-123588816
ABCC_CFTR2cd032892.4e-15588840
CysACOG11184.7e-08588842
FepCCOG11201.3e-22588837
GlnQCOG11261.9e-16588816
ABC_RNaseL_inhibitorcd032360.00032589814
ABC_NikE_OppD_transpcd032571.3e-29589806
ABC_MetN_methionine_cd032584.9e-18589816
ABC_CysA_sulfate_impcd032963.4e-15589823
DppDCOG04447.3e-11589841
OpuBACOG11254.3e-10589841
AbcCCOG11351.3e-12589842
SalXCOG11362.6e-26589809
ABC_Carb_Monos_Icd032163.7e-19590805
ABC_FeS_Assemblycd032171.8e-09590817
ABC_YhbGcd032181.2e-08590815
ABC_KpsT_Wztcd032204.7e-10590806
ABCF_EF-3cd032214.3e-09590801
ABC_TM1139_LivF_brancd032243.1e-17590814
ABC_Mj1267_LivG_brancd032191.8e-15590817
ABCC_MRP_Likecd032288.5e-120590801
ABC_Class3cd032291.3e-40590801
ABC_DR_subfamily_Acd032302.5e-30590802
ABCD_peroxisomal_ALDcd032232.4e-11590802
ABCC_Protease_Secretcd032462.5e-72590802
ABCC_cytochrome_bdcd032471.2e-60590806
ABC_MTABC3_MDL1_MDL2cd032492.6e-113590825
ABCC_MRP_domain1cd032503.3e-19590801
ABCC_MsbAcd032512.4e-131590822
ABCC_ATM1_transportecd032536.1e-184590825
ABCC_Hemolysincd032521.5e-98590825
ABC_PhnC_transportercd032569.4e-17590818
ABC_MJ0796_LolCDE_Ftcd032553.3e-23590802
ABC_Carb_Solutes_likcd032596.3e-32590806
ABC_PstB_phosphate_tcd032607.6e-32590811
ABC_Org_Solvent_Resicd032611.6e-16590818
ABC_HisP_GlnQcd032621.1e-18590802
ABC_subfamily_Acd032635.9e-12590798
ABC_drug_resistance_cd032646.9e-14590806
ABC_DrrAcd032652.3e-11590812
ABC_NatA_likecd032671.3e-07590806
ABC_BcrA_bacitracin_cd032684.6e-11590806
ABC_putative_ATPasecd032693.1e-11590806
ABC_NatA_sodium_expocd032661.7e-13590806
ABCC_SUR1_Ncd032901.1e-17590801
ABC_NrtD_SsuB_transpcd032931.8e-20590810
ABC_FtsE_transportercd032926.9e-19590802
ABC_Pro_Gly_Betainecd032947.8e-15590817
ABC_OpuCA_Osmoproteccd032953.4e-13590828
ABC_ThiQ_thiamine_trcd032982.8e-12590806
ABC_ModC_likecd032991.1e-13590814
ABC_PotA_Ncd033002.4e-13590815
ABC_MalK_Ncd033017.4e-13590806
PhnKCOG11018.7e-08590825
ABC_ATPasecd002671.5e-63591801
ABC_Iron-Siderophorecd032142.4e-28591806
ABC_cobalt_CbiO_domacd032252.9e-40591801
ABC_cobalt_CbiO_domacd032261.2e-17591803
ABC_Metallic_Cationscd032356.3e-18591805
ABC_ModC_molybdenum_cd032977.9e-12594806
ABC_UvrAcd032389.5e-05595806
ABC_UvrA_IIcd032710.0005595808
ABC_Class2cd032270.00016598803
ABC_CcmA_heme_exportcd032312.2e-07601803
SunTCOG22742e-78101826
COG4178COG41780.00041214814
ArpDCOG46186.2e-20240842
ABC_membranepfam006646.1e-21265544
CydDCOG49881.3e-35268833
CydCCOG49871.4e-19276825
PvdECOG46154.7e-07289820
ATM1COG52657e-255329824
COG4172COG41721.5e-06475823
COG4586COG45862.4e-05569842
PhnKCOG41072.5e-08583829
COG4181COG41817.4e-12585806
COG4674COG46741.4e-05585810
PotACOG38429.3e-11586842
ProVCOG41753e-07586815
SapFCOG41678.7e-08586826
HisPCOG45981.1e-08586830
AppFCOG46083.3e-13586834
PhnLCOG47781.3e-09586796
COG3638COG36387.7e-16587841
MalKCOG38391.2e-11587842
COG4136COG41368.5e-09588805
COG4152COG41522.7e-06588836
TauBCOG45252.1e-10588833
FtsECOG28847.2e-22589810
ThiQCOG38405.7e-12589825
ArtPCOG41616.3e-16589824
COG4559COG45597.2e-11589828
CcmACOG41331e-08590805
BtuDCOG41382.2e-06590835
NatACOG45554.5e-17590830
CeuDCOG46047.9e-09590820
COG4619COG46195.3e-24590810
ModCCOG41481.1e-05594835
ABC_tranpfam000059.2e-34630755
AAAsmart003824.7e-36615816

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067394Diseasep.ALA57THRMicrophthalmia, isolated, with coloboma, 7 (MCOPCB7)
dbSNPrs60322991 Polymorphismp.ARG343GLNN/A
Swiss-ProtVAR_029749Polymorphismp.ARG648GLNN/A
Swiss-ProtVAR_035732Polymorphismp.ARG69GLYN/A
Swiss-ProtVAR_047552Polymorphismp.LEU293VALN/A
Swiss-ProtVAR_067395Diseasep.LEU811VALMicrophthalmia, isolated, with coloboma, 7 (MCOPCB7)
dbSNPrs61733629 Polymorphismp.VAL454ALAN/A
OMIM605452.0007 Diseasep.ALA57THRMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
OMIM605452.0003 Diseasep.ARG648TERLANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
OMIM605452.0001 Diseasep.GLN239TERLANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
OMIM605452.0010 Diseasep.GLY579GLUDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
OMIM605452.0008 Diseasep.LEU356PRODYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
OMIM605452.0006 Diseasep.LEU811VALMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
OMIM605452.0009 Diseasep.SER170GLYDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3



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