Results for the protein: NP

Results for the Protein: NP_001258628

411147369

22

ABCB7

NCBI

ATP-binding cassette sub-family B member 7, mitochondrial isoform 5 [Homo sapiens]

Known Diseases associated with this Protein:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

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3

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Tips:

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RefSeq Protein: NP_001258628

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1123	COG1123	3.2e-12	186	676
Uup	COG0488	0.00081	253	661
ABCC_SUR2	cd03288	1.3e-24	358	670
ABCC_CFTR1	cd03291	1.3e-08	394	696
ModF	COG1119	1.6e-13	408	651
TagH	COG1134	2.8e-06	412	673
ABC_RNaseL_inhibitor	cd03222	3.8e-05	425	666
ABCC_TAP	cd03248	2.3e-50	425	645
Ttg2A	COG1127	2.1e-16	425	685
ABC_NatA_sodium_expo	cd03266	4.9e-12	426	649
PhnK	COG1101	1.2e-07	426	683
MglA	COG1129	5.7e-05	426	708
YhbG	COG1137	2.8e-07	426	661
ABCC_NFT1	cd03369	1.9e-34	428	651
PstB	COG1117	6.6e-12	428	672
ZnuC	COG1121	1.2e-12	429	678
CcmA	COG1131	1.3e-31	429	707
ABCG_EPDR	cd03213	6.7e-16	430	649
ABCG_PDR_domain2	cd03232	8.3e-06	430	649
ABCG_PDR_domain1	cd03233	5.6e-08	430	649
ABCG_White	cd03234	9.2e-10	430	649
sufC	COG0396	2.7e-07	430	660
LivF	COG0410	1.5e-13	430	661
LivG	COG0411	4.1e-11	430	658
TauB	COG1116	3.6e-14	430	677
DppF	COG1124	1.1e-22	430	677
CbiO	COG1122	4.1e-39	430	663
ABC_Carb_Monos_II	cd03215	1.6e-09	431	645
ABCC_MRP_domain2	cd03244	8e-65	431	651
ABCC_bacteriocin_exp	cd03245	4.8e-60	431	649
ABCC_Glucan_exporter	cd03254	9.4e-108	431	659
ABCC_CFTR2	cd03289	4e-24	431	710
ABC_CysA_sulfate_imp	cd03296	7e-20	431	669
FepC	COG1120	1.2e-15	431	693
CysA	COG1118	9e-08	431	710
GlnQ	COG1126	3.2e-18	431	662
ABC_RNaseL_inhibitor	cd03236	0.00025	432	698
ABC_NikE_OppD_transp	cd03257	3.6e-30	432	649
ABC_MetN_methionine_	cd03258	1.1e-18	432	659
DppD	COG0444	1.3e-12	432	713
OpuBA	COG1125	4.7e-11	432	705
AbcC	COG1135	1.3e-13	432	710
SalX	COG1136	5.2e-23	432	651
ABC_Carb_Monos_I	cd03216	2.7e-17	433	648
ABC_YhbG	cd03218	3.9e-06	433	659
ABC_KpsT_Wzt	cd03220	1.3e-10	433	649
ABCF_EF-3	cd03221	2.3e-07	433	644
ABCD_peroxisomal_ALD	cd03223	4.7e-10	433	645
ABC_TM1139_LivF_bran	cd03224	1e-15	433	657
ABC_Class3	cd03229	5.7e-44	433	644
ABCC_MRP_Like	cd03228	3.2e-114	433	644
ABC_DR_subfamily_A	cd03230	2.1e-31	433	645
ABCC_Protease_Secret	cd03246	5e-53	433	645
ABCC_cytochrome_bd	cd03247	1.3e-74	433	649
ABCC_MRP_domain1	cd03250	2.4e-19	433	644
ABCC_ATM1_transporte	cd03253	1.7e-164	433	669
ABC_MJ0796_LolCDE_Ft	cd03255	1.8e-18	433	645
ABC_PhnC_transporter	cd03256	1.5e-15	433	662
ABCC_MsbA	cd03251	8.3e-108	433	666
ABCC_Hemolysin	cd03252	5.8e-89	433	669
ABC_Carb_Solutes_lik	cd03259	3.6e-28	433	649
ABC_PstB_phosphate_t	cd03260	2.3e-26	433	654
ABC_MTABC3_MDL1_MDL2	cd03249	1.1e-98	433	669
ABC_Org_Solvent_Resi	cd03261	1.1e-21	433	665
ABC_HisP_GlnQ	cd03262	5.7e-19	433	645
ABC_drug_resistance_	cd03264	9.6e-12	433	649
ABC_DrrA	cd03265	4.5e-10	433	655
ABC_subfamily_A	cd03263	2.1e-12	433	655
ABC_BcrA_bacitracin_	cd03268	1.2e-10	433	649
ABC_putative_ATPase	cd03269	8.1e-09	433	649
ABC_FtsE_transporter	cd03292	9.9e-17	433	645
ABCC_SUR1_N	cd03290	1e-13	433	644
ABC_NrtD_SsuB_transp	cd03293	8.2e-19	433	653
ABC_OpuCA_Osmoprotec	cd03295	1.8e-15	433	674
ABC_Pro_Gly_Betaine	cd03294	1.4e-13	433	665
ABC_NatA_like	cd03267	2.9e-05	433	649
ABC_ThiQ_thiamine_tr	cd03298	2e-12	433	649
ABC_PotA_N	cd03300	5.3e-14	433	662
ABC_MalK_N	cd03301	3.4e-12	433	649
ABC_ATPase	cd00267	1.5e-62	434	644
ABC_Iron-Siderophore	cd03214	1.9e-22	434	649
ABC_cobalt_CbiO_doma	cd03226	8.3e-15	434	646
ABC_Metallic_Cations	cd03235	4.2e-13	434	648
ABC_cobalt_CbiO_doma	cd03225	9.4e-38	434	644
ABC_FeS_Assembly	cd03217	1.9e-07	437	654
ABC_ModC_like	cd03299	2.5e-15	438	661
ABC_RNaseL_inhibitor	cd03237	1.2e-05	440	688
ABC_UvrA	cd03238	1.5e-05	441	649
ABC_Mj1267_LivG_bran	cd03219	2.2e-14	443	660
ABC_CcmA_heme_export	cd03231	4.8e-07	444	646
ABC_ModC_molybdenum_	cd03297	1.3e-13	446	649
SunT	COG2274	2.5e-67	1	670
CydD	COG4988	4.2e-32	98	675
COG4178	COG4178	0.00046	100	658
PvdE	COG4615	4.6e-08	110	659
ABC_membrane	pfam00664	3.2e-22	112	385
CydC	COG4987	5.1e-23	114	669
ATM1	COG5265	3.2e-273	170	668
ArpD	COG4618	3e-15	201	674
COG4172	COG4172	2.7e-07	293	674
COG4586	COG4586	2.2e-05	416	710
SapF	COG4167	3.5e-09	420	685
PhnK	COG4107	1.2e-07	426	675
COG4181	COG4181	4.1e-12	427	649
PotA	COG3842	1.1e-10	428	709
ProV	COG4175	6.2e-07	429	709
HisP	COG4598	8.2e-17	429	672
AppF	COG4608	7.1e-16	429	707
PhnL	COG4778	2.3e-08	429	647
COG3638	COG3638	2.1e-14	430	671
MalK	COG3839	3.9e-11	430	705
COG4619	COG4619	4.6e-12	430	656
COG4136	COG4136	2.9e-06	431	648
COG4152	COG4152	0.00099	431	712
ArtP	COG4161	1.8e-18	431	669
TauB	COG4525	1.4e-09	431	676
FtsE	COG2884	8.2e-16	432	653
ThiQ	COG3840	3.9e-12	432	668
NatA	COG4555	1.1e-14	432	674
COG4559	COG4559	3e-08	432	685
CcmA	COG4133	1.7e-07	433	648
CeuD	COG4604	2.7e-05	433	682
ModC	COG4148	2.6e-09	437	707
BtuD	COG4138	5.4e-07	438	685
ABC_tran	pfam00005	5.2e-38	473	598
AAA	smart00382	2.3e-32	458	644

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	300135.0002	Disease	p.GLU393LYS	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0001	Disease	p.ILE360MET	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
OMIM	300135.0003	Disease	p.VAL371LEU	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258