Results for the protein: Q13285

Results for the Protein: Q13285

3121738

2516

NR5A1

NCBI, UniProt

STF1_HUMAN RecName: Full=Steroidogenic factor 1; Short=SF-1; Short=STF-1; AltName: Full=Adrenal 4-binding protein; AltName: Full=Fushi tarazu factor homolog 1; AltName: Full=Nuclear receptor subfamily 5 group A member 1; AltName: Full=Steroid hormone receptor Ad4BP

Known Diseases associated with this Protein:
  46,XY SEX REVERSAL 3
  46,XY SEX REVERSAL 3 (SRXY3)
  ADRENOCORTICAL INSUFFICIENCY
  ADRENOCORTICAL INSUFFICIENCY, WITHOUT OVARIAN DEFECT (ACIWOD)
  PREMATURE OVARIAN FAILURE 7
  PREMATURE OVARIAN FAILURE 7 (POF7)
  PREMATURE OVARIAN FAILURE 7, INCLUDED
  SPERMATOGENIC FAILURE 8
  SPERMATOGENIC FAILURE 8 (SPGF8)
  SPERMATOGENIC FAILURE 8, INCLUDED

29

1

13

0

17

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.

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Swiss-Prot Protein: Q13285

Identical to: NP_004950

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	2.6e-20	5	111
NR_DBD_PNR	cd06970	1.8e-18	5	95
NR_DBD_TLX	cd07163	3.2e-22	5	96
NR_DBD_DHR4_like	cd07168	5.2e-44	5	94
NR_DBD_GCNF_like	cd07169	1.9e-46	5	94
NR_DBD_RAR	cd06964	3.1e-36	7	91
NR_DBD_ERR	cd07170	5.2e-35	7	107
NR_DBD_TR2_like	cd06967	2.6e-32	8	94
NR_DBD_REV_ERB	cd07166	3.2e-27	8	96
NR_DBD_ER	cd07171	1.1e-27	8	89
NR_DBD_AR	cd07173	8e-24	8	90
NR_DBD_GR_PR	cd07172	6.6e-25	9	86
NR_DBD_FXR	cd06962	1.8e-24	10	93
NR_DBD_EcR	cd07161	1.6e-27	10	100
NR_DBD_RXR	cd06956	6.2e-36	11	87
NR_DBD_CAR	cd06966	3.2e-20	11	112
NR_DBD_NGFI-B	cd06969	1.4e-41	11	85
2DBD_NR_DBD1	cd07157	9.9e-16	11	94
NR_DBD_EcR_like	cd06959	2.6e-28	12	84
NR_DBD_TR	cd06961	8.1e-37	12	96
NR_DBD_Ppar	cd06965	5e-27	12	95
NR_DBD_PXR	cd07162	2e-22	12	101
NR_DBD_like	cd06916	9.7e-48	13	84
NR_DBD_PNR_like_2	cd06957	4.5e-26	13	95
NR_DBD_COUP_TF	cd06958	3e-27	13	85
NR_DBD_HNF4A	cd06960	1.1e-35	13	88
NR_DBD_GR_like	cd06963	3.5e-27	13	85
NR_DBD_ROR	cd06968	2.1e-26	13	100
NR_DBD_PNR_like	cd07154	3.6e-26	13	84
NR_DBD_ER_like	cd07155	1.5e-31	13	87
NR_DBD_VDR_like	cd07156	9.2e-35	13	84
NR_DBD_Ppar_like	cd07158	1.2e-31	13	84
NR_DBD_PNR_like_1	cd07164	2.6e-27	13	90
NR_DBD_DmE78_like	cd07165	1.4e-33	13	93
NR_DBD_Lrh-1_like	cd07167	5.1e-72	13	105
2DBD_NR_DBD2	cd07179	1.1e-29	13	86
NR_LBD_ER	cd06949	5.2e-07	221	459
NR_LBD_RXR_like	cd06943	3.5e-14	222	441
NR_LBD_COUP-TF	cd06948	9.4e-10	222	461
NR_LBD_EcR	cd06938	8.1e-05	223	458
NR_LBD_Ftz-F1_like	cd06944	6.7e-158	223	459
NR_LBD_SF-1	cd07070	1.6e-185	223	459
NR_LBD_Lrh-1	cd07069	1.1e-115	223	461
NR_LBD_Nurr1_like	cd06945	0.00062	225	461
NR_LBD_ERR	cd06946	9.1e-09	226	458
NR_LBD_ER_like	cd07068	3.3e-12	226	458
NR_LBD_HNF4_like	cd06931	2.9e-10	227	455
NR_LBD_Tlx_PNR_like	cd06950	1.7e-05	228	444
NR_LBD_DHR4_like	cd06953	1e-06	232	440
NR_LBD_SHP	cd07349	0.00019	240	456
NR_LBD_Dax1	cd07350	0.00063	240	454
NR_LBD_Dax1_like	cd06951	9.4e-07	242	454
NR_LBD_GR_Like	cd06947	0.00029	243	439
NR_LBD_TR2_like	cd06952	3.6e-05	256	446
NR_LBD_F1	cd06929	2.9e-06	259	437
NR_LBD_F2	cd06930	2e-63	262	429
NR_LBD	cd06157	2.2e-49	263	429
zf-C4	pfam00105	4.6e-48	11	80
Hormone_recep	pfam00104	1.1e-37	293	455
ZnF_C4	smart00399	3.5e-38	12	81
HOLI	smart00430	9.6e-35	269	429

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065867	Disease	p.ARG191CYS	Spermatogenic failure 8 (SPGF8)
Swiss-Prot	VAR_016982	Disease	p.ARG92GLN	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_039107	Disease	p.ARG84HIS	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_016983	Disease	p.ARG255LEU	Adrenocortical insufficiency, without ovarian defect (ACIWOD)
Swiss-Prot	VAR_065869	Disease	p.ASP238ASN	Spermatogenic failure 8 (SPGF8)
Swiss-Prot	VAR_062970	Disease	p.ASP293ASN	Premature ovarian failure 7 (POF7)
Swiss-Prot	VAR_039106	Disease	p.CYS33SER	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_062967	Disease	p.GLY123ALA	Spermatogenic failure 8 (SPGF8)
Swiss-Prot	VAR_039108	Polymorphism	p.GLY146ALA	N/A
Swiss-Prot	VAR_004737	Disease	p.GLY35GLU	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_065868	Disease	p.GLY212SER	Spermatogenic failure 8 (SPGF8)
Swiss-Prot	VAR_063257	Disease	p.GLY91SER	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_063258	Disease	p.LEU437GLN	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_063256	Disease	p.MET78ILE	46,XY sex reversal 3 (SRXY3)
Swiss-Prot	VAR_062968	Disease	p.PRO129LEU	Spermatogenic failure 8 (SPGF8)
Swiss-Prot	VAR_065866	Disease	p.PRO131LEU	Spermatogenic failure 8 (SPGF8)
Swiss-Prot	VAR_063255	Disease	p.VAL15MET	46,XY sex reversal 3 (SRXY3)
OMIM	184757.0003	Disease	p.ARG92GLN	46,XY SEX REVERSAL 3
OMIM	184757.0002	Disease	p.ARG255LEU	ADRENOCORTICAL INSUFFICIENCY
OMIM	184757.0012	Disease	p.ASP293ASN	46,XY SEX REVERSAL 3\|\|PREMATURE OVARIAN FAILURE 7, INCLUDED
OMIM	184757.0005	Disease	p.CYS16TER	46,XY SEX REVERSAL 3
OMIM	184757.0016	Disease	p.GLY123ALA	PREMATURE OVARIAN FAILURE 7\|\|SPERMATOGENIC FAILURE 8, INCLUDED
OMIM	184757.0001	Disease	p.GLY35GLU	46,XY SEX REVERSAL 3
OMIM	184757.0018	Disease	p.GLY212SER	SPERMATOGENIC FAILURE 8
OMIM	184757.0009	Disease	p.GLY91SER	46,XY SEX REVERSAL 3
OMIM	184757.0010	Disease	p.LEU437GLN	46,XY SEX REVERSAL 3
OMIM	184757.0008	Disease	p.MET78ILE	46,XY SEX REVERSAL 3
OMIM	184757.0016	Disease	p.PRO129LEU	PREMATURE OVARIAN FAILURE 7\|\|SPERMATOGENIC FAILURE 8, INCLUDED
OMIM	184757.0017	Disease	p.PRO131LEU	SPERMATOGENIC FAILURE 8
OMIM	184757.0007	Disease	p.VAL15MET	46,XY SEX REVERSAL 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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