Results for the protein: Q16665

Results for the Protein: Q16665

2498017

3091

HIF1A

NCBI, UniProt

HIF1A_HUMAN RecName: Full=Hypoxia-inducible factor 1-alpha; Short=HIF-1-alpha; Short=HIF1-alpha; AltName: Full=ARNT-interacting protein; AltName: Full=Basic-helix-loop-helix-PAS protein MOP1; AltName: Full=Class E basic helix-loop-helix protein 78; Short=bHLHe78; AltName: Full=Member of PAS protein 1; AltName: Full=PAS domain-containing protein 8

			0 3 0 2 1

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Default View: HLH - cd00083 HLH - smart00353 PAS - smart00091 PAS - cd00130 PAS_3 - pfam08447 PAC - smart00086 HIF-1 - pfam11413 HIF-1a_CTAD - pfam08778	Swiss-Prot Protein: Q16665 Identical to: NP_001521 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PAS	cd00130	6.5e-09	96	198
PAS	cd00130	2.1e-17	239	342
HLH	smart00353	1.1e-09	23	78
PAS	smart00091	1.7e-11	87	153
PAS	smart00091	5.4e-10	230	296
PAS_3	pfam08447	4.3e-24	252	339
PAC	smart00086	2.4e-10	302	345
HIF-1	pfam11413	1.5e-15	549	582
HIF-1a_CTAD	pfam08778	1.3e-24	787	826

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11549467	Polymorphism	p.ALA588THR	N/A
dbSNP	rs11549465	Polymorphism	p.PRO582SER	N/A
Swiss-Prot	VAR_015854	Polymorphism	p.THR796ALA	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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