Summary ?
GeneID3091
SymbolHIF1A
SynonymsHIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78
Descriptionhypoxia inducible factor 1 alpha subunit
ReferenceMIM:603348|HGNC:HGNC:4910|Ensembl:ENSG00000100644|HPRD:04517|Vega:OTTHUMG00000140344
Gene typeprotein-coding
Map location14q23.2
Pascal p-value0.29
Sherlock p-value0.907
TADA p-value0.013
Fetal beta1.164
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Gulsuner_2013Whole Exome Sequencing analysis155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
HIF1Achr1462203734CGNM_001243084
NM_001530
NM_181054
p.410L>V
p.386L>V
p.386L>V
missense
missense
missense
SchizophreniaDNM:Gulsuner_2013

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17139868chr7117079228HIF1A30910.13trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HLA-DRA0.860.84
HLA-DMA0.810.84
HLA-DPA10.800.81
CD740.780.81
TBXAS10.770.77
CTSS0.740.69
HLA-DRB10.740.77
CD860.730.64
RGS100.730.71
HLA-DQA10.730.71
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SH3BP2-0.46-0.62
KIAA1949-0.44-0.52
SH2B2-0.44-0.63
TUBB2B-0.42-0.58
NASP-0.42-0.52
VAV2-0.42-0.48
ZNF311-0.41-0.45
ZBTB12-0.41-0.46
AL033532.1-0.41-0.48
ZNF300-0.41-0.44

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
APEX1APE | APE-1 | APE1 | APEN | APEX | APX | HAP1 | REF-1 | REF1APEX nuclease (multifunctional DNA repair enzyme) 1-HPRD,BioGRID10594042 
ARNTHIF-1beta | HIF1B | HIF1BETA | TANGO | bHLHe2aryl hydrocarbon receptor nuclear translocator-HPRD,BioGRID9079689 
ARNTHIF-1beta | HIF1B | HIF1BETA | TANGO | bHLHe2aryl hydrocarbon receptor nuclear translocatorHIF-1alpha interacts with HIF-1betaBIND8663540 
ARNTHIF-1beta | HIF1B | HIF1BETA | TANGO | bHLHe2aryl hydrocarbon receptor nuclear translocatorHIF-1alpha isoform 1 interacts with HIF-1beta isoform 3BIND8663540 
ARNTHIF-1beta | HIF1B | HIF1BETA | TANGO | bHLHe2aryl hydrocarbon receptor nuclear translocatorArnt interacts with HIF1-alpha.BIND9704006 
ARNTHIF-1beta | HIF1B | HIF1BETA | TANGO | bHLHe2aryl hydrocarbon receptor nuclear translocatorHIF-1alpha isoform 2 interacts with HIF-1beta isoform 1BIND8663540 
ARNTHIF-1beta | HIF1B | HIF1BETA | TANGO | bHLHe2aryl hydrocarbon receptor nuclear translocatorHIF-1alpha isoform 2 interacts with HIF-1beta isoform 3BIND8663540 
ARNTLBMAL1 | BMAL1c | JAP3 | MGC47515 | MOP3 | PASD3 | TIC | bHLHe5aryl hydrocarbon receptor nuclear translocator-like-HPRD,BioGRID9576906 
CDKN1ACAP20 | CDKN1 | CIP1 | MDA-6 | P21 | SDI1 | WAF1 | p21CIP1cyclin-dependent kinase inhibitor 1A (p21, Cip1)HIF-1alpha interacts with CDKN1A promoter.BIND15780936 
CDKN2AARF | CDK4I | CDKN2 | CMM2 | INK4 | INK4a | MLM | MTS1 | TP16 | p14 | p14ARF | p16 | p16INK4 | p16INK4a | p19cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)p14ARF interacts with HIF-1alpha.BIND11382768 
COPS5CSN5 | JAB1 | MGC3149 | MOV-34 | SGN5COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)Jab1 interacts with HIF-1alpha.BIND11707426 
CREBBPCBP | KAT3A | RSTSCREB binding protein-HPRD,BioGRID10202154 
DAP3DAP-3 | DKFZp686G12159 | MGC126058 | MGC126059 | MRP-S29 | MRPS29 | bMRP-10death associated protein 3-HPRD,BioGRID10903152 
EGLN1C1orf12 | DKFZp761F179 | ECYT3 | HIFPH2 | HPH2 | PHD2 | SM-20 | SM20 | ZMYND6egl nine homolog 1 (C. elegans)HIF-1 alpha interacts with PHD2.BIND15721254 
EGLN3FLJ21620 | HIFPH3 | MGC125998 | MGC125999 | PHD3egl nine homolog 3 (C. elegans)HIF-1 alpha interacts with PHD3.BIND15721254 
EP300KAT3B | p300E1A binding protein p300-HPRD,BioGRID11823643 
EPOEP | MGC138142erythropoietinHIF1A (HIF-1-alpha) interacts with the EPO gene 3(prime) enhancer.BIND15674338 
HDAC1DKFZp686H12203 | GON-10 | HD1 | RPD3 | RPD3L1histone deacetylase 1Reconstituted ComplexBioGRID11641274 
HDAC2RPD3 | YAF1histone deacetylase 2Reconstituted ComplexBioGRID11641274 
HDAC3HD3 | RPD3 | RPD3-2histone deacetylase 3Reconstituted ComplexBioGRID11641274 
HIF1ANDKFZp762F1811 | FIH1 | FLJ20615 | FLJ22027hypoxia-inducible factor 1, alpha subunit inhibitor-HPRD,BioGRID11641274 
HIF3AHIF-3A | HIF-3A2 | HIF-3A4 | IPAS | MOP7 | PASD7 | bHLHe17hypoxia inducible factor 3, alpha subunit-HPRD11734856 
HSP90AA1FLJ31884 | HSP86 | HSP89A | HSP90A | HSP90N | HSPC1 | HSPCA | HSPCAL1 | HSPCAL4 | HSPN | Hsp89 | Hsp90 | LAP2heat shock protein 90kDa alpha (cytosolic), class A member 1-HPRD,BioGRID9079689 
JUNAP-1 | AP1 | c-Junjun oncogene-HPRD,BioGRID11739718 
MAPK3ERK1 | HS44KDAP | HUMKER1A | MGC20180 | P44ERK1 | P44MAPK | PRKM3mitogen-activated protein kinase 3-HPRD10551817 
MDM2HDMX | MGC71221 | hdm2Mdm2 p53 binding protein homolog (mouse)Affinity Capture-Western
Biochemical Activity
Reconstituted Complex
BioGRID10640274 |12606552 
MDM2HDMX | MGC71221 | hdm2Mdm2 p53 binding protein homolog (mouse)-HPRD10640274|12606552 
NCOA1F-SRC-1 | KAT13A | MGC129719 | MGC129720 | NCoA-1 | RIP160 | SRC-1 | SRC1 | bHLHe42nuclear receptor coactivator 1-HPRD,BioGRID10594042 
OS9-amplified in osteosarcomaHIF-1 alpha interacts with OS-9.BIND15721254 
PER1MGC88021 | PER | RIGUI | hPERperiod homolog 1 (Drosophila)-HPRD,BioGRID11726537 
PGK1MGC117307 | MGC142128 | MGC8947 | MIG10 | PGKAphosphoglycerate kinase 1-HPRD8089148 
PSMA7C6 | HSPC | MGC3755 | RC6-1 | XAPC7proteasome (prosome, macropain) subunit, alpha type, 7-HPRD,BioGRID11389899 
PSMC3MGC8487 | TBP1proteasome (prosome, macropain) 26S subunit, ATPase, 3-HPRD,BioGRID14556007 
RB1OSRC | RB | p105-Rb | pRb | pp110retinoblastoma 1RB1 (pRB) interacts with HIF1A (HIF-1-alpha).BIND15674338 
SP1-Sp1 transcription factorSp1 interacts with HIF-1alpha.BIND15780936 
SSX4MGC119056 | MGC12411synovial sarcoma, X breakpoint 4Two-hybridBioGRID16189514 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53Affinity Capture-Western
Reconstituted Complex
BioGRID9537326 |10640274 
|12124396 |12606552 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53-HPRD9537326|12124396 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53p53 interacts with HIF-1 alpha.BIND15629713 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53HIF-1alpha interacts with p53BIND11593383 
VEGFAMGC70609 | VEGF | VEGF-A | VPFvascular endothelial growth factor AHIF1A (HIF-1-alpha) interacts with the VEGF promoter.BIND15674338 
VHLHRCA1 | RCA1 | VHL1von Hippel-Lindau tumor suppressorHydroxylated HIF-1 alpha interacts with VHL. This interaction was modeled on a demonstrated interaction between human hydroxylated HIF-1 alpha and an unspecified isoform of VHL from an unspecified species.BIND15721254 
VHLHRCA1 | RCA1 | VHL1von Hippel-Lindau tumor suppressorThe von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-alpha (HIF-1 alpha)BIND10823831 
VHLHRCA1 | RCA1 | VHL1von Hippel-Lindau tumor suppressor-HPRD11504942 
VHLHRCA1 | RCA1 | VHL1von Hippel-Lindau tumor suppressorHIF1A (HIF-1alpha) interacts with VHL.BIND15750626 
VHLHRCA1 | RCA1 | VHL1von Hippel-Lindau tumor suppressor-HPRD,BioGRID10944113 
VHLLVLPvon Hippel-Lindau tumor suppressor-like-HPRD14757845 
ZNF197D3S1363E | P18 | VHLaK | ZKSCAN9 | ZNF166 | ZNF20zinc finger protein 197Affinity Capture-WesternBioGRID12682018 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG MTOR SIGNALING PATHWAY 5240All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG RENAL CELL CARCINOMA 7060All SZGR 2.0 genes in this pathway
BIOCARTA EPONFKB PATHWAY 1111All SZGR 2.0 genes in this pathway
BIOCARTA P53HYPOXIA PATHWAY 2321All SZGR 2.0 genes in this pathway
BIOCARTA HIF PATHWAY 1512All SZGR 2.0 genes in this pathway
BIOCARTA VEGF PATHWAY 2918All SZGR 2.0 genes in this pathway
PID AP1 PATHWAY 7060All SZGR 2.0 genes in this pathway
PID HIF1A PATHWAY 1912All SZGR 2.0 genes in this pathway
PID VEGFR1 PATHWAY 2623All SZGR 2.0 genes in this pathway
PID HIF1 TFPATHWAY 6652All SZGR 2.0 genes in this pathway
PID HES HEY PATHWAY 4839All SZGR 2.0 genes in this pathway
REACTOME NOTCH1 INTRACELLULAR DOMAIN REGULATES TRANSCRIPTION 4628All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NOTCH1 7046All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF HYPOXIA INDUCIBLE FACTOR HIF BY OXYGEN 2517All SZGR 2.0 genes in this pathway
REACTOME OXYGEN DEPENDENT PROLINE HYDROXYLATION OF HYPOXIA INDUCIBLE FACTOR ALPHA 1812All SZGR 2.0 genes in this pathway
REACTOME CIRCADIAN CLOCK 5340All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NOTCH 10364All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED UP 11271All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281186All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL DN 186107All SZGR 2.0 genes in this pathway
MARKS HDAC TARGETS DN 1511All SZGR 2.0 genes in this pathway
BAKER HEMATOPOIESIS STAT3 TARGETS 1612All SZGR 2.0 genes in this pathway
MARTIN INTERACT WITH HDAC 4431All SZGR 2.0 genes in this pathway
HERNANDEZ ABERRANT MITOSIS BY DOCETACEL 4NM DN 76All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
HASINA NOL7 TARGETS UP 1311All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS MODERATELY DN 11064All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230156All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
BENPORATH ES CORE NINE CORRELATED 10068All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS SUBSET 3320All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS UP 266171All SZGR 2.0 genes in this pathway
ROSS ACUTE MYELOID LEUKEMIA CBF 8257All SZGR 2.0 genes in this pathway
JECHLINGER EPITHELIAL TO MESENCHYMAL TRANSITION UP 7151All SZGR 2.0 genes in this pathway
DER IFN BETA RESPONSE UP 10267All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC 182116All SZGR 2.0 genes in this pathway
HARRIS HYPOXIA 8164All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C2 5439All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN 228146All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP 262186All SZGR 2.0 genes in this pathway
JACKSON DNMT1 TARGETS UP 7757All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 10668All SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL 311205All SZGR 2.0 genes in this pathway
HOWLIN CITED1 TARGETS 1 DN 3722All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN THYMUS UP 196137All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN 9264All SZGR 2.0 genes in this pathway
WINTER HYPOXIA METAGENE 242168All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264159All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP 374247All SZGR 2.0 genes in this pathway
VART KSHV INFECTION ANGIOGENIC MARKERS UP 165118All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL DN 175103All SZGR 2.0 genes in this pathway
GU PDEF TARGETS UP 7149All SZGR 2.0 genes in this pathway
ROSS LEUKEMIA WITH MLL FUSIONS 7849All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN 240153All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER UP 298174All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP 491316All SZGR 2.0 genes in this pathway
SWEET KRAS ONCOGENIC SIGNATURE 8956All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP 518299All SZGR 2.0 genes in this pathway
VALK AML WITH 11Q23 REARRANGED 2213All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP 8363All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237159All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA LB DN 4423All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 11 10368All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE M G1 14895All SZGR 2.0 genes in this pathway
HIRSCH CELLULAR TRANSFORMATION SIGNATURE UP 242159All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR UP 229149All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 DN 157106All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
RAFFEL VEGFA TARGETS UP 98All SZGR 2.0 genes in this pathway
IKEDA MIR133 TARGETS UP 4327All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF 516308All SZGR 2.0 genes in this pathway