Results for the protein: P07333

Results for the Protein: P07333

547770

1436

CSF1R

NCBI, UniProt

CSF1R_HUMAN RecName: Full=Macrophage colony-stimulating factor 1 receptor; AltName: Full=CSF-1 receptor; Short=CSF-1-R; Short=CSF-1R; Short=M-CSF-R; AltName: Full=Proto-oncogene c-Fms; AltName: CD_antigen=CD115; Flags: Precursor

Known Diseases associated with this Protein:
LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS (HDLS)

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3

20

Tips:

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Swiss-Prot Protein: P07333

Identical to: NP_005202

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig4_SCFR_like	cd04975	1.9e-50	299	400
Ig4_SCFR	cd05860	2.2e-06	300	397
PTKc_CSF-1R	cd05106	2.2e-275	543	915
PTKc_PDGFR	cd05055	1.5e-302	546	914
PTKc_Kit	cd05104	6.2e-199	546	914
PTKc_PDGFR_alpha	cd05105	2.1e-148	546	916
PTKc_PDGFR_beta	cd05107	3.7e-145	546	915
STKc_STK10_LOK	cd06644	0.001	561	929
PTKc_FGFR1	cd05098	3.3e-88	564	920
STKc_PAK	cd06614	6e-08	564	889
PTKc_FGFR2	cd05101	2.4e-89	568	921
PTKc_FGFR	cd05053	3.2e-112	569	915
PTKc_FGFR4	cd05099	2e-90	569	934
PTKc_FGFR3	cd05100	1.3e-86	569	951
PTKc_VEGFR	cd05054	3.4e-133	574	917
PTKc_EGFR_like	cd05057	6.4e-41	574	927
PTKc_VEGFR3	cd05102	9.4e-137	574	917
PTKc_VEGFR2	cd05103	9.9e-128	574	917
PTKc_InsR_like	cd05032	1.3e-62	575	912
PTKc_ALK_LTK	cd05036	1.3e-58	575	912
PTKc_Csk_like	cd05039	6.5e-39	575	913
PTKc_Src_like	cd05034	3.2e-60	575	913
PTKc_FAK	cd05056	4.7e-48	575	918
PTKc_InsR	cd05061	2.6e-51	575	923
PTKc_IGF-1R	cd05062	5.4e-45	575	912
PTKc_Lck_Blk	cd05067	1.2e-47	575	913
PTKc_Frk_like	cd05068	1.7e-60	575	913
PTKc_Abl	cd05052	1.3e-54	575	914
PTKc_Yes	cd05069	1.6e-41	575	913
PTKc_Fyn_Yrk	cd05070	7.7e-42	575	913
PTKc_Src	cd05071	2.1e-37	575	915
PTKc_Lyn	cd05072	8.3e-47	575	913
PTKc_Hck	cd05073	8.4e-49	575	913
PTKc_Csk	cd05082	1e-42	575	913
PTKc_Chk	cd05083	6.1e-50	575	913
PTKc_Tie1	cd05089	1.3e-51	575	938
PTKc_Srm_Brk	cd05148	2.4e-50	575	913
PTK_CCK4	cd05046	2.1e-29	576	912
PTKc_Ror	cd05048	1.3e-55	576	913
PTKc_Trk	cd05049	4e-52	576	912
PTKc_Musk	cd05050	5.2e-70	576	912
PTKc_DDR	cd05051	3e-40	576	912
PTKc_EphR_A2	cd05063	7.5e-26	576	914
PTKc_EphR_A10	cd05064	2.8e-20	576	914
PTKc_Ror2	cd05091	4.2e-39	576	913
PTKc_TrkA	cd05092	5.1e-46	576	912
PTKc_TrkB	cd05093	4.4e-41	576	922
PTKc_TrkC	cd05094	4.5e-26	576	922
PTKc_DDR2	cd05095	7.2e-41	576	912
PTKc_DDR_like	cd05097	4e-41	576	912
PTKc_DDR1	cd05096	1.2e-38	576	912
PTKc_Ror1	cd05090	3.3e-40	576	913
STKc_SLK_like	cd06611	1.8e-06	576	926
PTKc_EphR	cd05033	1.2e-30	577	914
PTKc_Jak_rpt2	cd05038	1.2e-43	577	914
PTKc_Tec_like	cd05059	2.2e-30	577	911
PTKc_EphR_A	cd05066	4.3e-30	577	914
PTKc_EphR_B	cd05065	6.9e-25	577	914
PTKc_Jak1_rpt2	cd05079	4.6e-22	577	914
PTKc_Jak2_Jak3_rpt2	cd05081	6.6e-22	577	914
PTKc_Tyk2_rpt2	cd05080	3.8e-15	577	915
PTKc_Tie2	cd05088	6.4e-52	577	937
PTKc_EGFR	cd05108	1.8e-20	577	966
PTKc_HER4	cd05110	2.3e-11	577	946
PTK_HER3	cd05111	4.4e-22	577	924
PTKc_Itk	cd05112	9.4e-28	577	911
PTKc_Btk_Bmx	cd05113	1.2e-46	577	911
PTKc_HER2	cd05109	1.4e-20	577	924
PTKc_Tec_Rlk	cd05114	5e-37	577	911
STKc_MST1_2	cd06612	1.5e-05	578	910
STKc_myosinIII_like	cd06608	2.3e-07	578	910
STKc_MAP4K3_like	cd06613	1.3e-06	578	909
PTK_Ryk	cd05043	3.9e-19	579	914
STKc_MEKK2	cd06652	0.00072	579	913
STKc_Nek6_Nek7	cd08224	5.7e-05	579	915
STKc_PKA	cd05580	0.00049	580	932
STKc_PDK1	cd05581	4.1e-10	580	910
PKc_MAPKK	cd06605	1.6e-06	580	916
STKc_OSR1_SPAK	cd06610	1.2e-05	580	910
PKc_MAPKK_PBS2_like	cd06622	0.00023	580	958
PKc_MAPKK_plant_like	cd06623	4.1e-08	580	915
STKc_MEKK3_like	cd06625	2.7e-06	580	912
PKc_MKK3_6	cd06617	0.00011	580	927
STKc_CDKL	cd07833	0.00098	580	909
STKc_Nek7	cd08229	0.00018	580	915
SPS1	COG0515	7.3e-06	580	972
PTKc_RET	cd05045	3e-84	581	917
PKc_STE	cd05122	2.9e-08	581	909
STKc_MAPKKK	cd06606	1.6e-13	581	906
STKc_Cdc7_like	cd06627	1.3e-09	581	910
STKc_MAPKKK_Byr2_lik	cd06628	1.1e-05	581	910
STKc_MEKK1	cd06630	6.1e-05	581	904
STKc_YSK4	cd06631	5.9e-06	581	910
STKc_MEKK3	cd06651	0.00094	581	914
STKc_MAPK	cd07834	0.00037	581	949
STKc_CDK7	cd07841	4e-05	581	911
STKc_Nek5	cd08225	4.7e-05	581	910
STKc_CNK2-like	cd08530	3e-05	581	910
PTKc_Axl_like	cd05035	5.1e-45	582	914
PTKc_Tyro3	cd05074	6.3e-36	582	914
PTKc_Axl	cd05075	3.4e-42	582	914
STKc_MST3_like	cd06609	0.00014	582	921
STKc_NAK1_like	cd06917	0.00054	582	918
STKc_CDK_like	cd07829	4.4e-09	582	910
STKc_MAK_like	cd07830	3.8e-05	582	910
STKc_MEKK4	cd06626	0.00042	583	906
STKc_MEKK1_plant	cd06632	1.5e-06	583	910
STKc_CDK8_like	cd07842	0.0004	583	903
STKc_MAPKKK_Bck1_lik	cd06629	1.5e-06	585	904
PTKc	cd00192	7.5e-133	586	911
PTK_Jak_rpt1	cd05037	1.3e-06	586	911
PTKc_Fes_like	cd05041	4.5e-46	586	912
PTKc_Aatyk	cd05042	4.9e-13	586	912
PTKc_c-ros	cd05044	7.9e-52	586	912
PTKc_Tie	cd05047	4e-57	586	915
PTKc_Ack_like	cd05040	2.3e-33	586	912
PTKc_Met_Ron	cd05058	8e-45	586	916
PTKc_Syk_like	cd05060	7.7e-32	586	915
PTK_Jak2_Jak3_rpt1	cd05078	1.8e-07	586	911
PTKc_Fes	cd05084	3.2e-39	586	912
PTKc_Fer	cd05085	4.7e-48	586	912
PTKc_Aatyk2	cd05086	2.5e-08	586	912
PTKc_Aatyk1_Aatyk3	cd05087	1.8e-16	586	912
STKc_CMGC	cd05118	3.9e-07	586	906
PTKc_Syk	cd05116	3.9e-29	586	915
STKc_CDK9_like	cd07840	4.6e-06	586	910
STKc_Nek	cd08215	2.3e-10	586	912
STKc_Nek2	cd08217	2.8e-06	586	910
PTKc_Zap-70	cd05115	2e-27	587	915
STKc_Nek9	cd08221	0.00021	587	912
PKc	cd00180	1.4e-43	588	910
STKc_AGC	cd05123	6.2e-08	588	909
STKc_TAO2	cd06634	0.00053	632	957
STKc_Nek3	cd08219	1.9e-05	643	912
STKc_Nek11	cd08222	0.00019	646	910
STKc_STK25-YSK1	cd06642	0.00018	657	921
STKc_Nek4	cd08223	0.00039	671	910
PTK_Jak1_rpt1	cd05077	0.00056	673	911
STKc_CDK12	cd07864	0.0005	679	910
STKc_FA2-like	cd08529	6.5e-06	698	909
PKc_MAPKK_Pek1_like	cd06621	0.0003	721	924
STKc_Yank1	cd05578	0.0005	724	910
ig	pfam00047	4.6e-11	217	280
Pkinase	pfam00069	4.7e-25	582	910
IG_like	smart00410	0.00082	27	102
IG	smart00409	3.2e-06	209	296
IG_like	smart00410	3.2e-06	209	296
IGc2	smart00408	2.5e-08	216	285
Pkinase_Tyr	pfam07714	5e-169	582	910
TyrKc	smart00219	5e-138	582	910
STYKc	smart00221	1.3e-41	582	912
S_TKc	smart00220	1.3e-29	592	910

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067402	Disease	p.ALA770PRO	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
dbSNP	rs41338945	Polymorphism	p.ALA245SER	N/A
Swiss-Prot	VAR_042044	Polymorphism	p.ARG921GLN	N/A
Swiss-Prot	VAR_067399	Polymorphism	p.ARG710HIS	N/A
Swiss-Prot	VAR_067406	Disease	p.ASP837TYR	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_042043	Polymorphism	p.GLU920ASP	N/A
Swiss-Prot	VAR_067398	Disease	p.GLU633LYS	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_067400	Polymorphism	p.GLY747ARG	N/A
Swiss-Prot	VAR_067397	Disease	p.GLY589GLU	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_042040	Polymorphism	p.GLY413SER	N/A
dbSNP	rs10079250	Polymorphism	p.HIS362ARG	N/A
Swiss-Prot	VAR_067404	Disease	p.ILE775ASN	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_067405	Disease	p.ILE794THR	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_067409	Disease	p.LEU868PRO	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_042041	Polymorphism	p.LEU536VAL	N/A
Swiss-Prot	VAR_067401	Disease	p.MET766THR	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_067410	Disease	p.MET875THR	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_067407	Disease	p.PHE849SER	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_042042	Polymorphism	p.PRO693HIS	N/A
Swiss-Prot	VAR_067411	Disease	p.PRO878THR	Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS)
Swiss-Prot	VAR_011953	Polymorphism	p.TYR969CYS	N/A
Swiss-Prot	VAR_042038	Polymorphism	p.VAL32GLY	N/A
dbSNP	rs3829986	Polymorphism	p.VAL279MET	N/A

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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