LOCUS       NM_001530               3946 bp    mRNA    linear   PRI 22-MAR-2025
DEFINITION  Homo sapiens hypoxia inducible factor 1 subunit alpha (HIF1A),
            transcript variant 1, mRNA.
ACCESSION   NM_001530
VERSION     NM_001530.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3946)
  AUTHORS   Nie,L., Huang,L., Zhu,Q., Yao,Q., Wu,Y., Zhao,L., Yu,L. and Fu,F.
  TITLE     HIF-1alpha Activates Hypoxia-Induced MXRA5 Expression in the
            Progression of Ovarian Cancer
  JOURNAL   J Environ Pathol Toxicol Oncol 44 (1), 47-55 (2025)
   PUBMED   39462449
  REMARK    GeneRIF: HIF-1alpha Activates Hypoxia-Induced MXRA5 Expression in
            the Progression of Ovarian Cancer.
REFERENCE   2  (bases 1 to 3946)
  AUTHORS   VON Fournier,A., Wilhelm,C., Tirtey,C., Stoth,M., Kasemo,T.E.,
            Hackenberg,S. and Scherzad,A.
  TITLE     Impact of Hypoxia and the Levels of Transcription Factor HIF-1alpha
            and JMJD1A on Epithelial-Mesenchymal Transition in Head and Neck
            Squamous Cell Carcinoma Cell Lines
  JOURNAL   Cancer Genomics Proteomics 21 (6), 591-607 (2024)
   PUBMED   39467631
  REMARK    GeneRIF: Impact of Hypoxia and the Levels of Transcription Factor
            HIF-1alpha and JMJD1A on Epithelial-Mesenchymal Transition in Head
            and Neck Squamous Cell Carcinoma Cell Lines.
REFERENCE   3  (bases 1 to 3946)
  AUTHORS   Yao,L.P., Wang,Z.K., Jiang,X.Q., Jiang,B., Chen,S.J., Hua,Z.D.,
            Gao,D.D., Zheng,Q., Zhu,S.M., Qian,M.X., Zhang,F., Xu,L.F.,
            Chen,C.S. and Lu,F.
  TITLE     MiR-1307-5p enhances fibroblast transdifferentiation to exacerbate
            chronic obstructive pulmonary disease through regulating
            FBXL16/HIF1alpha axis
  JOURNAL   Respir Res 25 (1), 376 (2024)
   PUBMED   39420370
  REMARK    GeneRIF: MiR-1307-5p enhances fibroblast transdifferentiation to
            exacerbate chronic obstructive pulmonary disease through regulating
            FBXL16/HIF1alpha axis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3946)
  AUTHORS   Kling,L., Eulenberg-Gustavus,C., Jerke,U., Rousselle,A.,
            Eckardt,K.U., Schreiber,A. and Kettritz,R.
  TITLE     beta2-integrins control HIF1alpha activation in human neutrophils
  JOURNAL   Front Immunol 15, 1406967 (2024)
   PUBMED   39469705
  REMARK    GeneRIF: beta2-integrins control HIF1alpha activation in human
            neutrophils.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3946)
  AUTHORS   Zarychta,J., Kowalczyk,A., Slowik,K., Przywara,D., Petniak,A.,
            Kondracka,A., Wojtowicz-Marzec,M., Slyk-Gulewska,P.,
            Kwasniewska,A., Kocki,J. and Gil-Kulik,P.
  TITLE     Pilot Study on the Effect of Patient Condition and Clinical
            Parameters on Hypoxia-Induced Factor Expression: HIF1A, EPAS1 and
            HIF3A in Human Colostrum Cells
  JOURNAL   Int J Mol Sci 25 (20), 11042 (2024)
   PUBMED   39456823
  REMARK    GeneRIF: Pilot Study on the Effect of Patient Condition and
            Clinical Parameters on Hypoxia-Induced Factor Expression: HIF1A,
            EPAS1 and HIF3A in Human Colostrum Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3946)
  AUTHORS   Wang,G.L., Jiang,B.H., Rue,E.A. and Semenza,G.L.
  TITLE     Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS
            heterodimer regulated by cellular O2 tension
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5510-5514 (1995)
   PUBMED   7539918
REFERENCE   7  (bases 1 to 3946)
  AUTHORS   Wang,G.L. and Semenza,G.L.
  TITLE     Purification and characterization of hypoxia-inducible factor 1
  JOURNAL   J Biol Chem 270 (3), 1230-1237 (1995)
   PUBMED   7836384
REFERENCE   8  (bases 1 to 3946)
  AUTHORS   Semenza,G.L., Roth,P.H., Fang,H.M. and Wang,G.L.
  TITLE     Transcriptional regulation of genes encoding glycolytic enzymes by
            hypoxia-inducible factor 1
  JOURNAL   J Biol Chem 269 (38), 23757-23763 (1994)
   PUBMED   8089148
REFERENCE   9  (bases 1 to 3946)
  AUTHORS   Wang,G.L. and Semenza,G.L.
  TITLE     General involvement of hypoxia-inducible factor 1 in
            transcriptional response to hypoxia
  JOURNAL   Proc Natl Acad Sci U S A 90 (9), 4304-4308 (1993)
   PUBMED   8387214
REFERENCE   10 (bases 1 to 3946)
  AUTHORS   Semenza,G.L. and Wang,G.L.
  TITLE     A nuclear factor induced by hypoxia via de novo protein synthesis
            binds to the human erythropoietin gene enhancer at a site required
            for transcriptional activation
  JOURNAL   Mol Cell Biol 12 (12), 5447-5454 (1992)
   PUBMED   1448077
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC344032.1, BC012527.2 and
            CN264295.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 7, 2018 this sequence version replaced NM_001530.3.
            
            Summary: This gene encodes the alpha subunit of transcription
            factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer
            composed of an alpha and a beta subunit. HIF-1 functions as a
            master regulator of cellular and systemic homeostatic response to
            hypoxia by activating transcription of many genes, including those
            involved in energy metabolism, angiogenesis, apoptosis, and other
            genes whose protein products increase oxygen delivery or facilitate
            metabolic adaptation to hypoxia. HIF-1 thus plays an essential role
            in embryonic vascularization, tumor angiogenesis and
            pathophysiology of ischemic disease. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified for this gene. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.144807.1,
                                           SRR1660805.134018.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337138.9/ ENSP00000338018.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                DC344032.1         161-198
            39-2817             BC012527.2         1-2779
            2818-3258           CN264295.1         217-657
            3259-3946           BC012527.2         3222-3909
FEATURES             Location/Qualifiers
     source          1..3946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.2"
     gene            1..3946
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /note="hypoxia inducible factor 1 subunit alpha"
                     /db_xref="GeneID:3091"
                     /db_xref="HGNC:HGNC:4910"
                     /db_xref="MIM:603348"
     exon            1..327
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     CDS             293..2773
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /note="isoform 1 is encoded by transcript variant 1; ARNT
                     interacting protein; hypoxia inducible factor 1, alpha
                     subunit (basic helix-loop-helix transcription factor);
                     member of PAS superfamily 1; hypoxia-inducible factor
                     1-alpha; member of PAS protein 1; PAS domain-containing
                     protein 8; hypoxia inducible factor 1 alpha subunit;
                     basic-helix-loop-helix-PAS protein MOP1; class E basic
                     helix-loop-helix protein 78; hypoxia-inducible
                     factor1alpha"
                     /codon_start=1
                     /product="hypoxia-inducible factor 1-alpha isoform 1"
                     /protein_id="NP_001521.1"
                     /db_xref="CCDS:CCDS9753.1"
                     /db_xref="GeneID:3091"
                     /db_xref="HGNC:HGNC:4910"
                     /db_xref="MIM:603348"
                     /translation="MEGAGGANDKKKISSERRKEKSRDAARSRRSKESEVFYELAHQL
                     PLPHNVSSHLDKASVMRLTISYLRVRKLLDAGDLDIEDDMKAQMNCFYLKALDGFVMV
                     LTDDGDMIYISDNVNKYMGLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVKKGKE
                     QNTQRSFFLRMKCTLTSRGRTMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMT
                     CLVLICEPIPHPSNIEIPLDSKTFLSRHSLDMKFSYCDERITELMGYEPEELLGRSIY
                     EYYHALDSDHLTKTHHDMFTKGQVTTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQC
                     IVCVNYVVSGIIQHDLIFSLQQTECVLKPVESSDMKMTQLFTKVESEDTSSLFDKLKK
                     EPDALTLLAPAAGDTIISLDFGSNDTETDDQQLEEVPLYNDVMLPSPNEKLQNINLAM
                     SPLPTAETPKPLRSSADPALNQEVALKLEPNPESLELSFTMPQIQDQTPSPSDGSTRQ
                     SSPEPNSPSEYCFYVDSDMVNEFKLELVEKLFAEDTEAKNPFSTQDTDLDLEMLAPYI
                     PMDDDFQLRSFDQLSPLESSSASPESASPQSTVTVFQQTQIQEPTANATTTTATTDEL
                     KTVTKDRMEDIKILIASPSPTHIHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEK
                     SHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQ
                     PDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMDESGLPQLTSY
                     DCEVNAPIQGSRNLLQGEELLRALDQVN"
     exon            328..518
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            519..664
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            665..749
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            750..862
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1065
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1172
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1320
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1541
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1828
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1829..1951
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            1952..2385
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2386..2494
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2495..2621
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     exon            2622..3946
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3923..3928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /note="hexamer: AATAAA"
     polyA_site      3946
                     /gene="HIF1A"
                     /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha;
                     HIF1; HIF1-ALPHA; MOP1; PASD8"
                     /note="major polyA site"
ORIGIN      
        1 agtgcacagt gctgcctcgt ctgaggggac aggaggatca ccctcttcgt cgcttcggcc
       61 agtgtgtcgg gctgggccct gacaagccac ctgaggagag gctcggagcc gggcccggac
      121 cccggcgatt gccgcccgct tctctctagt ctcacgaggg gtttcccgcc tcgcaccccc
      181 acctctggac ttgcctttcc ttctcttctc cgcgtgtgga gggagccagc gcttaggccg
      241 gagcgagcct gggggccgcc cgccgtgaag acatcgcggg gaccgattca ccatggaggg
      301 cgccggcggc gcgaacgaca agaaaaagat aagttctgaa cgtcgaaaag aaaagtctcg
      361 agatgcagcc agatctcggc gaagtaaaga atctgaagtt ttttatgagc ttgctcatca
      421 gttgccactt ccacataatg tgagttcgca tcttgataag gcctctgtga tgaggcttac
      481 catcagctat ttgcgtgtga ggaaacttct ggatgctggt gatttggata ttgaagatga
      541 catgaaagca cagatgaatt gcttttattt gaaagccttg gatggttttg ttatggttct
      601 cacagatgat ggtgacatga tttacatttc tgataatgtg aacaaataca tgggattaac
      661 tcagtttgaa ctaactggac acagtgtgtt tgattttact catccatgtg accatgagga
      721 aatgagagaa atgcttacac acagaaatgg ccttgtgaaa aagggtaaag aacaaaacac
      781 acagcgaagc ttttttctca gaatgaagtg taccctaact agccgaggaa gaactatgaa
      841 cataaagtct gcaacatgga aggtattgca ctgcacaggc cacattcacg tatatgatac
      901 caacagtaac caacctcagt gtgggtataa gaaaccacct atgacctgct tggtgctgat
      961 ttgtgaaccc attcctcacc catcaaatat tgaaattcct ttagatagca agactttcct
     1021 cagtcgacac agcctggata tgaaattttc ttattgtgat gaaagaatta ccgaattgat
     1081 gggatatgag ccagaagaac ttttaggccg ctcaatttat gaatattatc atgctttgga
     1141 ctctgatcat ctgaccaaaa ctcatcatga tatgtttact aaaggacaag tcaccacagg
     1201 acagtacagg atgcttgcca aaagaggtgg atatgtctgg gttgaaactc aagcaactgt
     1261 catatataac accaagaatt ctcaaccaca gtgcattgta tgtgtgaatt acgttgtgag
     1321 tggtattatt cagcacgact tgattttctc ccttcaacaa acagaatgtg tccttaaacc
     1381 ggttgaatct tcagatatga aaatgactca gctattcacc aaagttgaat cagaagatac
     1441 aagtagcctc tttgacaaac ttaagaagga acctgatgct ttaactttgc tggccccagc
     1501 cgctggagac acaatcatat ctttagattt tggcagcaac gacacagaaa ctgatgacca
     1561 gcaacttgag gaagtaccat tatataatga tgtaatgctc ccctcaccca acgaaaaatt
     1621 acagaatata aatttggcaa tgtctccatt acccaccgct gaaacgccaa agccacttcg
     1681 aagtagtgct gaccctgcac tcaatcaaga agttgcatta aaattagaac caaatccaga
     1741 gtcactggaa ctttctttta ccatgcccca gattcaggat cagacaccta gtccttccga
     1801 tggaagcact agacaaagtt cacctgagcc taatagtccc agtgaatatt gtttttatgt
     1861 ggatagtgat atggtcaatg aattcaagtt ggaattggta gaaaaacttt ttgctgaaga
     1921 cacagaagca aagaacccat tttctactca ggacacagat ttagacttgg agatgttagc
     1981 tccctatatc ccaatggatg atgacttcca gttacgttcc ttcgatcagt tgtcaccatt
     2041 agaaagcagt tccgcaagcc ctgaaagcgc aagtcctcaa agcacagtta cagtattcca
     2101 gcagactcaa atacaagaac ctactgctaa tgccaccact accactgcca ccactgatga
     2161 attaaaaaca gtgacaaaag accgtatgga agacattaaa atattgattg catctccatc
     2221 tcctacccac atacataaag aaactactag tgccacatca tcaccatata gagatactca
     2281 aagtcggaca gcctcaccaa acagagcagg aaaaggagtc atagaacaga cagaaaaatc
     2341 tcatccaaga agccctaacg tgttatctgt cgctttgagt caaagaacta cagttcctga
     2401 ggaagaacta aatccaaaga tactagcttt gcagaatgct cagagaaagc gaaaaatgga
     2461 acatgatggt tcactttttc aagcagtagg aattggaaca ttattacagc agccagacga
     2521 tcatgcagct actacatcac tttcttggaa acgtgtaaaa ggatgcaaat ctagtgaaca
     2581 gaatggaatg gagcaaaaga caattatttt aataccctct gatttagcat gtagactgct
     2641 ggggcaatca atggatgaaa gtggattacc acagctgacc agttatgatt gtgaagttaa
     2701 tgctcctata caaggcagca gaaacctact gcagggtgaa gaattactca gagctttgga
     2761 tcaagttaac tgagcttttt cttaatttca ttcctttttt tggacactgg tggctcatta
     2821 cctaaagcag tctatttata ttttctacat ctaattttag aagcctggct acaatactgc
     2881 acaaacttgg ttagttcaat tttgatcccc tttctactta atttacatta atgctctttt
     2941 ttagtatgtt ctttaatgct ggatcacaga cagctcattt tctcagtttt ttggtattta
     3001 aaccattgca ttgcagtagc atcattttaa aaaatgcacc tttttattta tttatttttg
     3061 gctagggagt ttatcccttt ttcgaattat ttttaagaag atgccaatat aatttttgta
     3121 agaaggcagt aacctttcat catgatcata ggcagttgaa aaatttttac accttttttt
     3181 tcacatttta cataaataat aatgctttgc cagcagtacg tggtagccac aattgcacaa
     3241 tatattttct taaaaaatac cagcagttac tcatggaata tattctgcgt ttataaaact
     3301 agtttttaag aagaaatttt ttttggccta tgaaattgtt aaacctggaa catgacattg
     3361 ttaatcatat aataatgatt cttaaatgct gtatggttta ttatttaaat gggtaaagcc
     3421 atttacataa tatagaaaga tatgcatata tctagaaggt atgtggcatt tatttggata
     3481 aaattctcaa ttcagagaaa tcatctgatg tttctatagt cactttgcca gctcaaaaga
     3541 aaacaatacc ctatgtagtt gtggaagttt atgctaatat tgtgtaactg atattaaacc
     3601 taaatgttct gcctaccctg ttggtataaa gatattttga gcagactgta aacaagaaaa
     3661 aaaaaatcat gcattcttag caaaattgcc tagtatgtta atttgctcaa aatacaatgt
     3721 ttgattttat gcactttgtc gctattaaca tccttttttt catgtagatt tcaataattg
     3781 agtaatttta gaagcattat tttaggaata tatagttgtc acagtaaata tcttgttttt
     3841 tctatgtaca ttgtacaaat ttttcattcc ttttgctctt tgtggttgga tctaacacta
     3901 actgtattgt tttgttacat caaataaaca tcttctgtgg accagg
//
