Q9Y2N7 (HIF3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hypoxia-inducible factor 3-alpha
Short name=HIF-3-alpha
Short name=HIF3-alpha

Alternative name(s):
Basic-helix-loop-helix-PAS protein MOP7
Class E basic helix-loop-helix protein 17
Short name=bHLHe17
HIF3-alpha-1
Inhibitory PAS domain protein
Short name=IPAS
Member of PAS protein 7
PAS domain-containing protein 7

Gene names

Name:	HIF3A
Synonyms:	BHLHE17, MOP7, PASD7

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	669 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1. Binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The complex HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative function of inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to hypoxia-responsive elements (HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of isoform 4, leading to activation of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of isoform 4 increases and thereby secure an inhibition of HIF1A activity. Isoform 4 may be a negative regulator of hypoxia-inducible gene expression in the kidney and may be involved in renal tumorigenesis. Functions as an inhibitor of angiogenesis in the cornea By similarity. Ref.1
Subunit structure	Heterodimerizes with ARNT. Interacts via the oxygen-dependent degradation domain (ODD) with the beta domain of VHL. Ref.3 Ref.9
Subcellular location	Nucleus. Cytoplasm. Note: In the nuclei of all periportal and perivenous hepatocytes. In the distal perivenous zone, detected in the cytoplasm of the hepatocytes By similarity.
Tissue specificity	Expressed in kidney. Expressed abundantly in lung epithelial cells. Expression is regulated in an oxygen-dependent manner. Ref.1
Induction	Strongly induced by hypoxia (1% O2), both at the level of protein and mRNA due to an increase in protein stability and transcriptional activation. Ref.10
Post-translational modification	In normoxia, hydroxylated on Pro-492 in the oxygen-dependent degradation domain (ODD) by PHD. The hydroxylated proline promotes interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain. Contains 2 PAS (PER-ARNT-SIM) domains.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	DNA-binding
PTM	Hydroxylation Isopeptide bond Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription from RNA polymerase II promoter in response to hypoxia Traceable author statement. Source: Reactome transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara
Cellular_component	cytosol Traceable author statement. Source: Reactome nucleoplasm Traceable author statement. Source: Reactome plasma membrane Inferred from direct assay. Source: HPA
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara signal transducer activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y2N7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y2N7-2)

Also known as: HIF-3alpha1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MALGLQRA → MDWQDH

Isoform 3 (identifier: Q9Y2N7-3)

Also known as: HIF-3alpha2;

The sequence of this isoform differs from the canonical sequence as follows:
     611-669: SFLLTGGPAP...QPRAGSAQAD → VCWGINGILWPSLPSWLKPTVL

Isoform 4 (identifier: Q9Y2N7-4)

Also known as: HIF-3alpha4;

The sequence of this isoform differs from the canonical sequence as follows:
     293-363: LLSKGQAVTG...EQTEQHSRRP → CMYPISPGAK...FSPHLPPWWP
     364-669: Missing.

Isoform 5 (identifier: Q9Y2N7-5)

Also known as: HIF-3alpha3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     627-669: STPLLNLNEP...QPRAGSAQAD → TELTQFLLSV...APSPLGWFAI

Isoform 6 (identifier: Q9Y2N7-6)

Also known as: HIF-3alpha6;

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
     87-137: ACYLKALEGF...SIFDFIHPCD → MRPAAGAARR...ATCACTASAP
     234-323: PPLGRGAFLS...LWTQTQATVV → GFVMVLTAEG...FSPHLPPWWP
     324-669: Missing.

Isoform 7 (identifier: Q9Y2N7-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-120: MALGLQRARS...ENVSKHLGLS → MRPAAGAARR...ATCACTASAP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 669	669	Hypoxia-inducible factor 3-alpha		PRO_0000284414
Regions
	Domain	14 – 67	54	bHLH
	Domain	82 – 154	73	PAS 1
	Domain	227 – 297	71	PAS 2
	Region	452 – 581	130	ODD
	Region	454 – 506	53	NTAD
	Motif	414 – 418	5	LRRLL
	Motif	490 – 497	8	LAPYISMD
Amino acid modifications
	Modified residue	492	1	4-hydroxyproline Ref.9
	Cross-link	467		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.9
	Cross-link	570		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.9
Natural variations
	Alternative sequence	1 – 120	120	MALGL…HLGLS → MRPAAGAARRPRCCTSWLTR CPSPAASAPTWTRPLSCASP SATCACTASAP in isoform 7.		VSP_043429
	Alternative sequence	1 – 86	86	Missing in isoform 6.		VSP_024518
	Alternative sequence	1 – 56	56	Missing in isoform 5.		VSP_024519
	Alternative sequence	1 – 8	8	MALGLQRA → MDWQDH in isoform 2.		VSP_024520
	Alternative sequence	87 – 137	51	ACYLK…IHPCD → MRPAAGAARRPRCCTSWLTR CPSPAASAPTWTRPLSCASP SATCACTASAP in isoform 6.		VSP_024521
	Alternative sequence	234 – 323	90	PPLGR…QATVV → GFVMVLTAEGDMAYLSENVS NHLGLSQLELIGHSIFDFIH PCDQEELQDALTPHLNTSSL LPKPQGTVSFLAPSYPVPRS FSPHLPPWWP in isoform 6.		VSP_024522
	Alternative sequence	293 – 363	71	LLSKG…HSRRP → CMYPISPGAKPAATWPPADT RTPQLPIPQDALPPHLNTSS LLPKPQGTVSFLAPSYPVPR SFSPHLPPWWP in isoform 4.		VSP_024523
	Alternative sequence	324 – 669	346	Missing in isoform 6.		VSP_024524
	Alternative sequence	364 – 669	306	Missing in isoform 4.		VSP_024525
	Alternative sequence	611 – 669	59	SFLLT…SAQAD → VCWGINGILWPSLPSWLKPT VL in isoform 3.		VSP_024526
	Alternative sequence	627 – 669	43	STPLL…SAQAD → TELTQFLLSVLSFPILDPYP LGCAAPGLHASPFSLPTISV PQNPLHSPPQPSRHALTLTL PHMFGAPGAPSPLGWFAI in isoform 5.		VSP_024527
	Natural variant	343	1	Q → R. Ref.8 Corresponds to variant rs3764609 [ dbSNP | Ensembl ].		VAR_031731
	Natural variant	463	1	F → L. Corresponds to variant rs7253301 [ dbSNP | Ensembl ].		VAR_031732
Experimental info
	Mutagenesis	467	1	K → R: No loss of ubiquitination. Reduced ubiquitination; when associated with R-570. Ref.9
	Mutagenesis	492	1	P → A: Reduced ubiquitination. Ref.9
	Mutagenesis	570	1	K → R: No loss of ubiquitination. Reduced ubiquitination; when associated with R-467. Ref.9
	Sequence conflict	202	1	A → V in BAB55324. Ref.5
	Sequence conflict	497	1	D → G in BAB55324. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: 81C4C84517000DE2	FASTA	669	72,433
	10 20 30 40 50 60 MALGLQRARS TTELRKEKSR DAARSRRSQE TEVLYQLAHT LPFARGVSAH LDKASIMRLT 70 80 90 100 110 120 ISYLRMHRLC AAGEWNQVGA GGEPLDACYL KALEGFVMVL TAEGDMAYLS ENVSKHLGLS 130 140 150 160 170 180 QLELIGHSIF DFIHPCDQEE LQDALTPQQT LSRRKVEAPT ERCFSLRMKS TLTSRGRTLN 190 200 210 220 230 240 LKAATWKVLN CSGHMRAYKP PAQTSPAGSP DSEPPLQCLV LICEAIPHPG SLEPPLGRGA 250 260 270 280 290 300 FLSRHSLDMK FTYCDDRIAE VAGYSPDDLI GCSAYEYIHA LDSDAVSKSI HTLLSKGQAV 310 320 330 340 350 360 TGQYRFLARS GGYLWTQTQA TVVSGGRGPQ SESIVCVHFL ISQVEETGVV LSLEQTEQHS 370 380 390 400 410 420 RRPIQRGAPS QKDTPNPGDS LDTPGPRILA FLHPPSLSEA ALAADPRRFC SPDLRRLLGP 430 440 450 460 470 480 ILDGASVAAT PSTPLATRHP QSPLSADLPD ELPVGTENVH RLFTSGKDTE AVETDLDIAQ 490 500 510 520 530 540 DADALDLEML APYISMDDDF QLNASEQLPR AYHRPLGAVP RPRARSFHGL SPPALEPSLL 550 560 570 580 590 600 PRWGSDPRLS CSSPSRGDPS ASSPMAGARK RTLAQSSEDE DEGVELLGVR PPKRSPSPEH 610 620 630 640 650 660 ENFLLFPLSL SFLLTGGPAP GSLQDPSTPL LNLNEPLGLG PSLLSPYSDE DTTQPGGPFQ PRAGSAQAD
	Isoform 2 (HIF-3alpha1) [UniParc]. Checksum: 67B8794FF9DCCF4B	FASTA	667	72,405
	10 20 30 40 50 60 MDWQDHRSTT ELRKEKSRDA ARSRRSQETE VLYQLAHTLP FARGVSAHLD KASIMRLTIS 70 80 90 100 110 120 YLRMHRLCAA GEWNQVGAGG EPLDACYLKA LEGFVMVLTA EGDMAYLSEN VSKHLGLSQL 130 140 150 160 170 180 ELIGHSIFDF IHPCDQEELQ DALTPQQTLS RRKVEAPTER CFSLRMKSTL TSRGRTLNLK 190 200 210 220 230 240 AATWKVLNCS GHMRAYKPPA QTSPAGSPDS EPPLQCLVLI CEAIPHPGSL EPPLGRGAFL 250 260 270 280 290 300 SRHSLDMKFT YCDDRIAEVA GYSPDDLIGC SAYEYIHALD SDAVSKSIHT LLSKGQAVTG 310 320 330 340 350 360 QYRFLARSGG YLWTQTQATV VSGGRGPQSE SIVCVHFLIS QVEETGVVLS LEQTEQHSRR 370 380 390 400 410 420 PIQRGAPSQK DTPNPGDSLD TPGPRILAFL HPPSLSEAAL AADPRRFCSP DLRRLLGPIL 430 440 450 460 470 480 DGASVAATPS TPLATRHPQS PLSADLPDEL PVGTENVHRL FTSGKDTEAV ETDLDIAQDA 490 500 510 520 530 540 DALDLEMLAP YISMDDDFQL NASEQLPRAY HRPLGAVPRP RARSFHGLSP PALEPSLLPR 550 560 570 580 590 600 WGSDPRLSCS SPSRGDPSAS SPMAGARKRT LAQSSEDEDE GVELLGVRPP KRSPSPEHEN 610 620 630 640 650 660 FLLFPLSLSF LLTGGPAPGS LQDPSTPLLN LNEPLGLGPS LLSPYSDEDT TQPGGPFQPR AGSAQAD
	Isoform 3 (HIF-3alpha2) [UniParc]. Checksum: 9665B0AF3998F8EF	FASTA	632	68,964
	10 20 30 40 50 60 MALGLQRARS TTELRKEKSR DAARSRRSQE TEVLYQLAHT LPFARGVSAH LDKASIMRLT 70 80 90 100 110 120 ISYLRMHRLC AAGEWNQVGA GGEPLDACYL KALEGFVMVL TAEGDMAYLS ENVSKHLGLS 130 140 150 160 170 180 QLELIGHSIF DFIHPCDQEE LQDALTPQQT LSRRKVEAPT ERCFSLRMKS TLTSRGRTLN 190 200 210 220 230 240 LKAATWKVLN CSGHMRAYKP PAQTSPAGSP DSEPPLQCLV LICEAIPHPG SLEPPLGRGA 250 260 270 280 290 300 FLSRHSLDMK FTYCDDRIAE VAGYSPDDLI GCSAYEYIHA LDSDAVSKSI HTLLSKGQAV 310 320 330 340 350 360 TGQYRFLARS GGYLWTQTQA TVVSGGRGPQ SESIVCVHFL ISQVEETGVV LSLEQTEQHS 370 380 390 400 410 420 RRPIQRGAPS QKDTPNPGDS LDTPGPRILA FLHPPSLSEA ALAADPRRFC SPDLRRLLGP 430 440 450 460 470 480 ILDGASVAAT PSTPLATRHP QSPLSADLPD ELPVGTENVH RLFTSGKDTE AVETDLDIAQ 490 500 510 520 530 540 DADALDLEML APYISMDDDF QLNASEQLPR AYHRPLGAVP RPRARSFHGL SPPALEPSLL 550 560 570 580 590 600 PRWGSDPRLS CSSPSRGDPS ASSPMAGARK RTLAQSSEDE DEGVELLGVR PPKRSPSPEH 610 620 630 ENFLLFPLSL VCWGINGILW PSLPSWLKPT VL
	Isoform 4 (HIF-3alpha4) [UniParc]. Checksum: 66CE5B85A2C50A15	FASTA	363	39,962
	10 20 30 40 50 60 MALGLQRARS TTELRKEKSR DAARSRRSQE TEVLYQLAHT LPFARGVSAH LDKASIMRLT 70 80 90 100 110 120 ISYLRMHRLC AAGEWNQVGA GGEPLDACYL KALEGFVMVL TAEGDMAYLS ENVSKHLGLS 130 140 150 160 170 180 QLELIGHSIF DFIHPCDQEE LQDALTPQQT LSRRKVEAPT ERCFSLRMKS TLTSRGRTLN 190 200 210 220 230 240 LKAATWKVLN CSGHMRAYKP PAQTSPAGSP DSEPPLQCLV LICEAIPHPG SLEPPLGRGA 250 260 270 280 290 300 FLSRHSLDMK FTYCDDRIAE VAGYSPDDLI GCSAYEYIHA LDSDAVSKSI HTCMYPISPG 310 320 330 340 350 360 AKPAATWPPA DTRTPQLPIP QDALPPHLNT SSLLPKPQGT VSFLAPSYPV PRSFSPHLPP WWP
	Isoform 5 (HIF-3alpha3) [UniParc]. Checksum: F41051A16B629167	FASTA	648	69,967
	10 20 30 40 50 60 MRLTISYLRM HRLCAAGEWN QVGAGGEPLD ACYLKALEGF VMVLTAEGDM AYLSENVSKH 70 80 90 100 110 120 LGLSQLELIG HSIFDFIHPC DQEELQDALT PQQTLSRRKV EAPTERCFSL RMKSTLTSRG 130 140 150 160 170 180 RTLNLKAATW KVLNCSGHMR AYKPPAQTSP AGSPDSEPPL QCLVLICEAI PHPGSLEPPL 190 200 210 220 230 240 GRGAFLSRHS LDMKFTYCDD RIAEVAGYSP DDLIGCSAYE YIHALDSDAV SKSIHTLLSK 250 260 270 280 290 300 GQAVTGQYRF LARSGGYLWT QTQATVVSGG RGPQSESIVC VHFLISQVEE TGVVLSLEQT 310 320 330 340 350 360 EQHSRRPIQR GAPSQKDTPN PGDSLDTPGP RILAFLHPPS LSEAALAADP RRFCSPDLRR 370 380 390 400 410 420 LLGPILDGAS VAATPSTPLA TRHPQSPLSA DLPDELPVGT ENVHRLFTSG KDTEAVETDL 430 440 450 460 470 480 DIAQDADALD LEMLAPYISM DDDFQLNASE QLPRAYHRPL GAVPRPRARS FHGLSPPALE 490 500 510 520 530 540 PSLLPRWGSD PRLSCSSPSR GDPSASSPMA GARKRTLAQS SEDEDEGVEL LGVRPPKRSP 550 560 570 580 590 600 SPEHENFLLF PLSLSFLLTG GPAPGSLQDP TELTQFLLSV LSFPILDPYP LGCAAPGLHA 610 620 630 640 SPFSLPTISV PQNPLHSPPQ PSRHALTLTL PHMFGAPGAP SPLGWFAI
	Isoform 6 (HIF-3alpha6) [UniParc]. Checksum: A78EC74708561F68	FASTA	237	25,710
	10 20 30 40 50 60 MRPAAGAARR PRCCTSWLTR CPSPAASAPT WTRPLSCASP SATCACTASA PQEELQDALT 70 80 90 100 110 120 PQQTLSRRKV EAPTERCFSL RMKSTLTSRG RTLNLKAATW KVLNCSGHMR AYKPPAQTSP 130 140 150 160 170 180 AGSPDSEPPL QCLVLICEAI PHPGSLEGFV MVLTAEGDMA YLSENVSNHL GLSQLELIGH 190 200 210 220 230 SIFDFIHPCD QEELQDALTP HLNTSSLLPK PQGTVSFLAP SYPVPRSFSP HLPPWWP
	Isoform 7 [UniParc]. Checksum: 822B55E0513AF129	FASTA	600	64,359
	10 20 30 40 50 60 MRPAAGAARR PRCCTSWLTR CPSPAASAPT WTRPLSCASP SATCACTASA PQLELIGHSI 70 80 90 100 110 120 FDFIHPCDQE ELQDALTPQQ TLSRRKVEAP TERCFSLRMK STLTSRGRTL NLKAATWKVL 130 140 150 160 170 180 NCSGHMRAYK PPAQTSPAGS PDSEPPLQCL VLICEAIPHP GSLEPPLGRG AFLSRHSLDM 190 200 210 220 230 240 KFTYCDDRIA EVAGYSPDDL IGCSAYEYIH ALDSDAVSKS IHTLLSKGQA VTGQYRFLAR 250 260 270 280 290 300 SGGYLWTQTQ ATVVSGGRGP QSESIVCVHF LISQVEETGV VLSLEQTEQH SRRPIQRGAP 310 320 330 340 350 360 SQKDTPNPGD SLDTPGPRIL AFLHPPSLSE AALAADPRRF CSPDLRRLLG PILDGASVAA 370 380 390 400 410 420 TPSTPLATRH PQSPLSADLP DELPVGTENV HRLFTSGKDT EAVETDLDIA QDADALDLEM 430 440 450 460 470 480 LAPYISMDDD FQLNASEQLP RAYHRPLGAV PRPRARSFHG LSPPALEPSL LPRWGSDPRL 490 500 510 520 530 540 SCSSPSRGDP SASSPMAGAR KRTLAQSSED EDEGVELLGV RPPKRSPSPE HENFLLFPLS 550 560 570 580 590 600 LSFLLTGGPA PGSLQDPSTP LLNLNEPLGL GPSLLSPYSD EDTTQPGGPF QPRAGSAQAD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression and characterization of hypoxia-inducible factor (HIF)-3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha." Hara S., Hamada J., Kobayashi C., Kondo Y., Imura N. Biochem. Biophys. Res. Commun. 287:808-813(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY. Tissue: Kidney.
[2]	"Cloning and characterization of human inhibitory PAS domain protein." Cheng J.Q. Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]	"Human HIF-3alpha4 is a dominant-negative regulator of HIF-1 and is down-regulated in renal cell carcinoma." Maynard M.A., Evans A.J., Hosomi T., Hara S., Jewett M.A., Ohh M. FASEB J. 19:1396-1406(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), INTERACTION WITH HIF1A AND ARNT. Tissue: Cerebellum.
[4]	"HIF-3alpha2, one of splicing variants of human hypoxia-inducible factor-3alpha, functions as an inhibitor of hypoxia-induced gene expression and tumor growth." Hara S., Hosomi T., Mita M., Sakaue M., Kondo Y. Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Kidney.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 5 AND 7). Tissue: Embryo, Heart and Ovary.
[6]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-343. Tissue: Pancreas.
[9]	"Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex." Maynard M.A., Qi H., Chung J., Lee E.H., Kondo Y., Hara S., Conaway R.C., Conaway J.W., Ohh M. J. Biol. Chem. 278:11032-11040(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING, INTERACTION WITH VHL, UBIQUITINATION AT LYS-467 AND LYS-570, HYDROXYLATION AT PRO-492, MUTAGENESIS OF LYS-467; PRO-492 AND LYS-570.
[10]	"Hypoxia upregulates hypoxia inducible factor (HIF)-3alpha expression in lung epithelial cells: characterization and comparison with HIF-1alpha." Li Q.F., Wang X.R., Yang Y.W., Lin H. Cell Res. 16:548-558(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION.
+	Additional computationally mapped references.

Web resources

Wikipedia

Hypoxia inducible factor entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB054067 mRNA. Translation: BAB69689.1. AF463492 mRNA. Translation: AAL69947.1. AB118749 mRNA. Translation: BAD93355.1. AB295039 mRNA. Translation: BAG07185.1. AK021653 mRNA. Translation: BAB13865.1. AK024095 mRNA. Translation: BAB14824.1. AK027725 mRNA. Translation: BAB55324.1. AK297828 mRNA. Translation: BAG60164.1. AC007193 Genomic DNA. Translation: AAD22668.1. CH471126 Genomic DNA. Translation: EAW57410.1. BC080551 mRNA. Translation: AAH80551.1.
IPI	IPI00164458. IPI00292048. IPI00470784. IPI00738729. IPI00746815. IPI00844043. IPI00844320.
PIR	JC7771.
RefSeq	NP_071907.4. NM_022462.4. NP_690007.1. NM_152794.3. NP_690008.2. NM_152795.3.
UniGene	Hs.420830.
3D structure databases
HSSP	HSSP built from PDB template 1P97 based on UniProtKB Q99814.
ProteinModelPortal	Q9Y2N7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000366898.
PTM databases
PhosphoSite	Q9Y2N7.
Polymorphism databases
DMDM	145558932.
Proteomic databases
PaxDb	Q9Y2N7.
PRIDE	Q9Y2N7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000244303; ENSP00000244303; ENSG00000124440. ENST00000300862; ENSP00000300862; ENSG00000124440. ENST00000377670; ENSP00000366898; ENSG00000124440.
GeneID	64344.
KEGG	hsa:64344.
UCSC	uc002peh.3. human. uc002pel.3. human.
Organism-specific databases
CTD	64344.
GeneCards	GC19P046800.
HGNC	HGNC:15825. HIF3A.
HPA	HPA041141.
MIM	609976. gene.
neXtProt	NX_Q9Y2N7.
PharmGKB	PA29285.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG288942.
HOGENOM	HOG000234306.
HOVERGEN	HBG060456.
InParanoid	Q9Y2N7.
KO	K09096.
Enzyme and pathway databases
Pathway_Interaction_DB	hif1apathway. Hypoxic and oxygen homeostasis regulation of HIF-1-alpha.
Reactome	REACT_120956. Cellular responses to stress.
Gene expression databases
ArrayExpress	Q9Y2N7.
Bgee	Q9Y2N7.
CleanEx	HS_HIF3A.
Genevestigator	Q9Y2N7.
Family and domain databases
InterPro	IPR011598. bHLH_dom. IPR021537. HIF_alpha_subunit. IPR001610. PAC. IPR000014. PAS. IPR013767. PAS_fold. IPR013655. PAS_fold_3. [Graphical view]
Pfam	PF11413. HIF-1. 1 hit. PF00989. PAS. 1 hit. PF08447. PAS_3. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. SM00086. PAC. 1 hit. SM00091. PAS. 2 hits. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
TIGRFAMs	TIGR00229. sensory_box. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. PS50112. PAS. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64344.
NextBio	66283.
SOURCE	Search...

Entry information

Entry name

HIF3A_HUMAN

Accession

Primary (citable) accession number: Q9Y2N7
Secondary accession number(s): B0M185 , B4DNA2, Q58A43, Q66K72, Q8WXA1, Q96K34, Q9H7Z9, Q9HAI2

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	April 17, 2007
Last modified:	May 1, 2013
This is version 103 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.