Results for the protein: Q9NP58

Results for the Protein: Q9NP58

13123949

10058

ABCB6

NCBI, UniProt

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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Swiss-Prot Protein: Q9NP58

Identical to: NP_005680

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Uup	COG0488	5.7e-05	348	818
COG1123	COG1123	1.6e-11	365	819
ABCC_SUR2	cd03288	4.4e-28	517	826
ABCC_CFTR1	cd03291	1.5e-09	556	842
ModF	COG1119	2.7e-13	560	808
Ttg2A	COG1127	3.1e-13	578	839
ABCC_TAP	cd03248	3.3e-62	581	802
PstB	COG1117	3.3e-13	583	818
ABC_Carb_Monos_II	cd03215	5.6e-11	586	802
ABCC_NFT1	cd03369	6e-32	586	808
ZnuC	COG1121	8.6e-13	586	836
MglA	COG1129	0.00026	586	842
CcmA	COG1131	9.5e-29	586	842
YhbG	COG1137	3.1e-09	586	824
ABCG_EPDR	cd03213	1.5e-16	587	806
ABCG_PDR_domain2	cd03232	2.6e-07	587	806
ABCG_White	cd03234	2.8e-09	587	806
sufC	COG0396	1e-09	587	821
LivF	COG0410	3.6e-15	587	816
LivG	COG0411	1.9e-11	587	810
TauB	COG1116	1.6e-14	587	831
CbiO	COG1122	2e-35	587	833
DppF	COG1124	3.2e-22	587	835
TagH	COG1134	2e-07	587	829
ABCG_PDR_domain1	cd03233	2.3e-06	588	806
ABCC_MRP_domain2	cd03244	2.7e-62	588	808
ABCC_bacteriocin_exp	cd03245	6.1e-64	588	806
ABCC_Glucan_exporter	cd03254	1.6e-123	588	816
ABCC_CFTR2	cd03289	2.4e-15	588	840
CysA	COG1118	4.7e-08	588	842
FepC	COG1120	1.3e-22	588	837
GlnQ	COG1126	1.9e-16	588	816
ABC_RNaseL_inhibitor	cd03236	0.00032	589	814
ABC_NikE_OppD_transp	cd03257	1.3e-29	589	806
ABC_MetN_methionine_	cd03258	4.9e-18	589	816
ABC_CysA_sulfate_imp	cd03296	3.4e-15	589	823
DppD	COG0444	7.3e-11	589	841
OpuBA	COG1125	4.3e-10	589	841
AbcC	COG1135	1.3e-12	589	842
SalX	COG1136	2.6e-26	589	809
ABC_Carb_Monos_I	cd03216	3.7e-19	590	805
ABC_FeS_Assembly	cd03217	1.8e-09	590	817
ABC_YhbG	cd03218	1.2e-08	590	815
ABC_KpsT_Wzt	cd03220	4.7e-10	590	806
ABCF_EF-3	cd03221	4.3e-09	590	801
ABC_TM1139_LivF_bran	cd03224	3.1e-17	590	814
ABC_Mj1267_LivG_bran	cd03219	1.8e-15	590	817
ABCC_MRP_Like	cd03228	8.5e-120	590	801
ABC_Class3	cd03229	1.3e-40	590	801
ABC_DR_subfamily_A	cd03230	2.5e-30	590	802
ABCD_peroxisomal_ALD	cd03223	2.4e-11	590	802
ABCC_Protease_Secret	cd03246	2.5e-72	590	802
ABCC_cytochrome_bd	cd03247	1.2e-60	590	806
ABC_MTABC3_MDL1_MDL2	cd03249	2.6e-113	590	825
ABCC_MRP_domain1	cd03250	3.3e-19	590	801
ABCC_MsbA	cd03251	2.4e-131	590	822
ABCC_ATM1_transporte	cd03253	6.1e-184	590	825
ABCC_Hemolysin	cd03252	1.5e-98	590	825
ABC_PhnC_transporter	cd03256	9.4e-17	590	818
ABC_MJ0796_LolCDE_Ft	cd03255	3.3e-23	590	802
ABC_Carb_Solutes_lik	cd03259	6.3e-32	590	806
ABC_PstB_phosphate_t	cd03260	7.6e-32	590	811
ABC_Org_Solvent_Resi	cd03261	1.6e-16	590	818
ABC_HisP_GlnQ	cd03262	1.1e-18	590	802
ABC_subfamily_A	cd03263	5.9e-12	590	798
ABC_drug_resistance_	cd03264	6.9e-14	590	806
ABC_DrrA	cd03265	2.3e-11	590	812
ABC_NatA_like	cd03267	1.3e-07	590	806
ABC_BcrA_bacitracin_	cd03268	4.6e-11	590	806
ABC_putative_ATPase	cd03269	3.1e-11	590	806
ABC_NatA_sodium_expo	cd03266	1.7e-13	590	806
ABCC_SUR1_N	cd03290	1.1e-17	590	801
ABC_NrtD_SsuB_transp	cd03293	1.8e-20	590	810
ABC_FtsE_transporter	cd03292	6.9e-19	590	802
ABC_Pro_Gly_Betaine	cd03294	7.8e-15	590	817
ABC_OpuCA_Osmoprotec	cd03295	3.4e-13	590	828
ABC_ThiQ_thiamine_tr	cd03298	2.8e-12	590	806
ABC_ModC_like	cd03299	1.1e-13	590	814
ABC_PotA_N	cd03300	2.4e-13	590	815
ABC_MalK_N	cd03301	7.4e-13	590	806
PhnK	COG1101	8.7e-08	590	825
ABC_ATPase	cd00267	1.5e-63	591	801
ABC_Iron-Siderophore	cd03214	2.4e-28	591	806
ABC_cobalt_CbiO_doma	cd03225	2.9e-40	591	801
ABC_cobalt_CbiO_doma	cd03226	1.2e-17	591	803
ABC_Metallic_Cations	cd03235	6.3e-18	591	805
ABC_ModC_molybdenum_	cd03297	7.9e-12	594	806
ABC_UvrA	cd03238	9.5e-05	595	806
ABC_UvrA_II	cd03271	0.0005	595	808
ABC_Class2	cd03227	0.00016	598	803
ABC_CcmA_heme_export	cd03231	2.2e-07	601	803
SunT	COG2274	2e-78	101	826
COG4178	COG4178	0.00041	214	814
ArpD	COG4618	6.2e-20	240	842
ABC_membrane	pfam00664	6.1e-21	265	544
CydD	COG4988	1.3e-35	268	833
CydC	COG4987	1.4e-19	276	825
PvdE	COG4615	4.7e-07	289	820
ATM1	COG5265	7e-255	329	824
COG4172	COG4172	1.5e-06	475	823
COG4586	COG4586	2.4e-05	569	842
PhnK	COG4107	2.5e-08	583	829
COG4181	COG4181	7.4e-12	585	806
COG4674	COG4674	1.4e-05	585	810
PotA	COG3842	9.3e-11	586	842
ProV	COG4175	3e-07	586	815
SapF	COG4167	8.7e-08	586	826
HisP	COG4598	1.1e-08	586	830
AppF	COG4608	3.3e-13	586	834
PhnL	COG4778	1.3e-09	586	796
COG3638	COG3638	7.7e-16	587	841
MalK	COG3839	1.2e-11	587	842
COG4136	COG4136	8.5e-09	588	805
COG4152	COG4152	2.7e-06	588	836
TauB	COG4525	2.1e-10	588	833
FtsE	COG2884	7.2e-22	589	810
ThiQ	COG3840	5.7e-12	589	825
ArtP	COG4161	6.3e-16	589	824
COG4559	COG4559	7.2e-11	589	828
CcmA	COG4133	1e-08	590	805
BtuD	COG4138	2.2e-06	590	835
NatA	COG4555	4.5e-17	590	830
CeuD	COG4604	7.9e-09	590	820
COG4619	COG4619	5.3e-24	590	810
ModC	COG4148	1.1e-05	594	835
ABC_tran	pfam00005	9.2e-34	630	755
AAA	smart00382	4.7e-36	615	816

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067394	Disease	p.ALA57THR	Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)
dbSNP	rs60322991	Polymorphism	p.ARG343GLN	N/A
Swiss-Prot	VAR_029749	Polymorphism	p.ARG648GLN	N/A
Swiss-Prot	VAR_035732	Polymorphism	p.ARG69GLY	N/A
Swiss-Prot	VAR_047552	Polymorphism	p.LEU293VAL	N/A
Swiss-Prot	VAR_067395	Disease	p.LEU811VAL	Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)
dbSNP	rs61733629	Polymorphism	p.VAL454ALA	N/A
OMIM	605452.0007	Disease	p.ALA57THR	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
OMIM	605452.0003	Disease	p.ARG648TER	LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
OMIM	605452.0001	Disease	p.GLN239TER	LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
OMIM	605452.0010	Disease	p.GLY579GLU	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
OMIM	605452.0008	Disease	p.LEU356PRO	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
OMIM	605452.0006	Disease	p.LEU811VAL	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
OMIM	605452.0009	Disease	p.SER170GLY	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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