Results for the protein: O60494

Results for the Protein: O60494

311033498

8029

CUBN

NCBI, UniProt

CUBN_HUMAN RecName: Full=Cubilin; AltName: Full=460 kDa receptor; AltName: Full=Intestinal intrinsic factor receptor; AltName: Full=Intrinsic factor-cobalamin receptor; AltName: Full=Intrinsic factor-vitamin B12 receptor; Flags: Precursor

Known Diseases associated with this Protein:
MEGALOBLASTIC ANEMIA 1, FINNISH TYPE
RECESSIVE HEREDITARY MEGALOBLASTIC ANEMIA 1 (RH-MGA1)

2

37

1

20

18

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: EGF_CA - cd00054 EGF_CA - smart00179 EGF - smart00181 EGF - cd00053 EGF - pfam00008 EGF_CA - pfam07645 CUB - pfam00431 CUB - cd00041 CUB - smart00042	Swiss-Prot Protein: O60494 Identical to: NP_001072 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	4.8e-11	135	168
EGF_CA	cd00054	8.9e-12	170	211
EGF	cd00053	1e-07	173	211
EGF_CA	cd00054	1.6e-09	263	304
EGF	cd00053	1.9e-06	266	304
EGF_CA	cd00054	8.1e-10	305	348
EGF	cd00053	7.1e-06	308	348
EGF_CA	cd00054	4.5e-10	395	430
EGF	cd00053	2.8e-11	398	430
EGF_CA	cd00054	1.5e-14	432	468
EGF	cd00053	1.2e-11	435	468
CUB	cd00041	3.5e-34	474	585
CUB	cd00041	2.5e-43	590	701
CUB	cd00041	7.7e-29	708	815
CUB	cd00041	6.5e-33	817	927
CUB	cd00041	4.9e-49	932	1041
CUB	cd00041	8.1e-39	1048	1160
CUB	cd00041	4.2e-47	1165	1276
CUB	cd00041	2.7e-36	1278	1388
CUB	cd00041	1e-46	1391	1505
CUB	cd00041	2.8e-41	1510	1618
CUB	cd00041	3.2e-47	1620	1733
CUB	cd00041	1.6e-43	1738	1849
CUB	cd00041	4.9e-33	1851	1962
CUB	cd00041	4.4e-42	1978	2090
CUB	cd00041	2.4e-34	2092	2212
CUB	cd00041	9.7e-42	2217	2333
CUB	cd00041	4.7e-39	2336	2447
CUB	cd00041	2.9e-41	2452	2564
CUB	cd00041	3.7e-35	2570	2686
CUB	cd00041	4.5e-43	2689	2800
CUB	cd00041	1.8e-27	2805	2918
CUB	cd00041	1.6e-34	2920	3034
CUB	cd00041	6.7e-46	3037	3149
CUB	cd00041	1.3e-42	3157	3273
CUB	cd00041	7.9e-23	3278	3392
CUB	cd00041	5.8e-38	3395	3506
CUB	cd00041	1.5e-38	3511	3623
EGF	pfam00008	9.2e-09	136	166
EGF	pfam00008	2.7e-08	399	428
EGF	pfam00008	2.1e-08	436	466
CUB	pfam00431	1.1e-14	474	583
CUB	pfam00431	3.8e-37	590	699
CUB	pfam00431	1.6e-16	708	813
CUB	pfam00431	2.5e-18	817	925
CUB	pfam00431	2.9e-41	932	1039
CUB	pfam00431	3.7e-34	1048	1158
CUB	pfam00431	7.9e-40	1165	1274
CUB	pfam00431	3.1e-26	1278	1386
CUB	pfam00431	3.8e-42	1391	1503
CUB	pfam00431	2e-38	1510	1616
CUB	pfam00431	1.2e-43	1620	1731
CUB	pfam00431	1.4e-33	1738	1847
CUB	pfam00431	1e-19	1854	1960
CUB	pfam00431	1.8e-40	1978	2088
CUB	pfam00431	2.7e-26	2092	2210
CUB	pfam00431	7.3e-35	2217	2331
CUB	pfam00431	1.4e-35	2336	2445
CUB	pfam00431	1.3e-31	2452	2562
CUB	pfam00431	6.2e-24	2570	2684
CUB	pfam00431	1.8e-35	2689	2798
CUB	pfam00431	9.5e-15	2805	2916
CUB	pfam00431	7.5e-20	2920	3032
CUB	pfam00431	1.1e-36	3037	3147
CUB	pfam00431	4.8e-33	3157	3271
CUB	pfam00431	3.4e-06	3278	3388
CUB	pfam00431	7.2e-33	3395	3504
CUB	pfam00431	2.9e-27	3511	3621
EGF_CA	smart00179	3.6e-08	132	168
EGF	smart00181	2.2e-09	135	168
EGF_CA	pfam07645	0.00013	170	210
EGF_CA	smart00179	2.1e-12	170	211
EGF	smart00181	6.1e-06	173	211
EGF_CA	pfam07645	3.9e-05	263	303
EGF_CA	smart00179	2e-10	263	304
EGF	smart00181	7.8e-07	266	304
EGF_CA	pfam07645	0.00022	305	347
EGF_CA	smart00179	2e-07	305	348
EGF	smart00181	8.5e-06	308	348
EGF_CA	smart00179	3.6e-07	397	430
EGF	smart00181	1.7e-09	398	430
EGF_CA	smart00179	1.4e-13	432	468
EGF	smart00181	1.7e-09	435	468
CUB	smart00042	8.3e-21	483	583
CUB	smart00042	4.2e-31	599	699
CUB	smart00042	1.2e-16	717	813
CUB	smart00042	2.5e-21	825	925
CUB	smart00042	4.9e-36	941	1039
CUB	smart00042	2.6e-31	1057	1158
CUB	smart00042	1.1e-35	1174	1274
CUB	smart00042	4.9e-29	1289	1386
CUB	smart00042	5.6e-39	1400	1503
CUB	smart00042	3.6e-32	1519	1616
CUB	smart00042	4.1e-34	1630	1731
CUB	smart00042	1.7e-36	1747	1847
CUB	smart00042	3.8e-25	1861	1960
CUB	smart00042	3.6e-33	1989	2088
CUB	smart00042	3.1e-23	2101	2210
CUB	smart00042	1.7e-34	2230	2331
CUB	smart00042	9.1e-33	2345	2445
CUB	smart00042	1.3e-30	2461	2562
CUB	smart00042	2.2e-25	2580	2684
CUB	smart00042	2.1e-36	2698	2798
CUB	smart00042	3.3e-20	2814	2916
CUB	smart00042	1e-21	2929	3032
CUB	smart00042	1.3e-37	3046	3147
CUB	smart00042	1.1e-31	3166	3271
CUB	smart00042	1.2e-08	3289	3390
CUB	smart00042	3.1e-29	3404	3504
CUB	smart00042	2.5e-26	3520	3621

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_061154	Polymorphism	p.ALA335THR	N/A
Swiss-Prot	VAR_035830	Polymorphism	p.ALA2252VAL	N/A
Swiss-Prot	VAR_035831	Polymorphism	p.ALA2914VAL	N/A
Swiss-Prot	VAR_047452	Polymorphism	p.ARG2444GLN	N/A
Swiss-Prot	VAR_047447	Polymorphism	p.ARG1775TRP	N/A
dbSNP	rs1801232	Polymorphism	p.ASN3552LYS	N/A
Swiss-Prot	VAR_025289	Polymorphism	p.ASN1545TYR	N/A
Swiss-Prot	VAR_025293	Polymorphism	p.CYS2162TYR	N/A
dbSNP	rs45569534	Polymorphism	p.GLU2968GLN	N/A
dbSNP	rs1801240	Polymorphism	p.GLU3002GLY	N/A
Swiss-Prot	VAR_025295	Polymorphism	p.GLY2691ARG	N/A
dbSNP	rs12259370	Polymorphism	p.GLY66ARG	N/A
dbSNP	rs2271462	Polymorphism	p.GLY1840SER	N/A
Swiss-Prot	VAR_035829	Polymorphism	p.HIS786GLN	N/A
dbSNP	rs7905349	Polymorphism	p.HIS730TYR	N/A
dbSNP	rs76788243	Polymorphism	p.ILE37LEU	N/A
Swiss-Prot	VAR_047444	Polymorphism	p.ILE504MET	N/A
dbSNP	rs1801239	Polymorphism	p.ILE2984VAL	N/A
Swiss-Prot	VAR_035832	Polymorphism	p.ILE3189VAL	N/A
dbSNP	rs1801238	Polymorphism	p.LEU2879ILE	N/A
dbSNP	rs62619939	Polymorphism	p.LEU2153PHE	N/A
Swiss-Prot	VAR_047446	Polymorphism	p.LEU969VAL	N/A
dbSNP	rs2271460	Polymorphism	p.PHE2263CYS	N/A
Swiss-Prot	VAR_025284	Polymorphism	p.PHE124ILE	N/A
dbSNP	rs1801222	Polymorphism	p.PHE253SER	N/A
dbSNP	rs1801224	Polymorphism	p.PRO389ALA	N/A
dbSNP	rs3740168	Polymorphism	p.PRO2575ARG	N/A
Swiss-Prot	VAR_025288	Disease	p.PRO1297LEU	Recessive hereditary megaloblastic anemia 1 (RH-MGA1)
dbSNP	rs1801231	Polymorphism	p.PRO1559SER	N/A
dbSNP	rs2356590	Polymorphism	p.PRO1971THR	N/A
Swiss-Prot	VAR_025286	Polymorphism	p.PRO389THR	N/A
dbSNP	rs41289305	Polymorphism	p.SER1935GLY	N/A
Swiss-Prot	VAR_064704	Polymorphism	p.SER3258GLY	N/A
Swiss-Prot	VAR_025296	Polymorphism	p.SER2717TRP	N/A
dbSNP	rs1801230	Polymorphism	p.THR3422ILE	N/A
dbSNP	rs7898873	Polymorphism	p.THR3432SER	N/A
Swiss-Prot	VAR_025287	Polymorphism	p.TYR1032HIS	N/A
dbSNP	rs74116778	Polymorphism	p.VAL1769ILE	N/A
OMIM	602997.0001	Disease	p.PRO1297LEU	MEGALOBLASTIC ANEMIA 1, FINNISH TYPE

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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