AutismKB 2.0

Annotation Detail for HIF1A


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Basic Information Top
Gene Symbol:HIF1A ( HIF-1alpha,HIF1,HIF1-ALPHA,MOP1,PASD8,bHLHe78 )
Gene Full Name: hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
Band: 14q23.2
Quick LinksEntrez ID:3091; OMIM: 603348; Uniprot ID:HIF1A_HUMAN; ENSEMBL ID: ENSG00000100644; HGNC ID: 4910
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4024-hydroxyproline.
5644-hydroxyproline.
721Nuclear localization signal (Potential).
800S-nitrosocysteine (Probable).
803(3S)-3-hydroxyasparagine.
Location(AA) Modifications Resource
90S-nitrosocysteine (Potential).Swiss-Prot 53.0
139S-nitrosocysteine (Potential).Swiss-Prot 53.0
173S-nitrosocysteine (Potential).Swiss-Prot 53.0
194S-nitrosocysteine (Potential).Swiss-Prot 53.0
210S-nitrosocysteine (Potential).Swiss-Prot 53.0
219S-nitrosocysteine (Potential).Swiss-Prot 53.0
224S-nitrosocysteine (Potential).Swiss-Prot 53.0
255S-nitrosocysteine (Potential).Swiss-Prot 53.0
334S-nitrosocysteine (Potential).Swiss-Prot 53.0
337S-nitrosocysteine (Potential).Swiss-Prot 53.0
359S-nitrosocysteine (Potential).Swiss-Prot 53.0
4024-hydroxyproline.Swiss-Prot 53.0
520S-nitrosocysteine (Potential).Swiss-Prot 53.0
532N6-acetyllysine.Swiss-Prot 53.0
5644-hydroxyproline.Swiss-Prot 53.0
758S-nitrosocysteine (Potential).Swiss-Prot 53.0
780S-nitrosocysteine (Potential).Swiss-Prot 53.0
796PhosphothreoninePhospho.ELM 6.0
800S-nitrosocysteine (Potential).Swiss-Prot 53.0
8033-hydroxyasparagine.Swiss-Prot 53.0
Location(AA) Modification Resource
31Phosphoserine(CK1)HMM predict
31PhosphoserineHMM predict
49N-linkedHMM predict
104Phosphothreonine(CK2)HMM predict
212Phosphotyrosine(Syk)HMM predict
265Phosphotyrosine(INSR)HMM predict
416N-linkedHMM predict
431Phosphotyrosine(Abl)HMM predict
451Phosphoserine(CDC2)HMM predict
451Phosphoserine(CDK)HMM predict
458Phosphothreonine(CDK)HMM predict
458Phosphothreonine(MAPK)HMM predict
498Phosphothreonine(MAPK)HMM predict
500Phosphoserine(MAPK)HMM predict
500O-linkedHMM predict
500Phosphoserine(CDC2)HMM predict
502Phosphoserine(ATM)HMM predict
502O-linkedHMM predict
505O-linkedHMM predict
509Phosphoserine(IKK)HMM predict
510Phosphoserine(IKK)HMM predict
515Phosphoserine(MAPK)HMM predict
581Phosphoserine(IKK)HMM predict
586O-linkedHMM predict
589O-linkedHMM predict
589Phosphoserine(CDC2)HMM predict
594Phosphoserine(CDC2)HMM predict
594Phosphoserine(IKK)HMM predict
598O-linkedHMM predict
600O-linkedHMM predict
613N-linkedHMM predict
615O-linkedHMM predict
616O-linkedHMM predict
618O-linkedHMM predict
620O-linkedHMM predict
641Phosphoserine(CDK)HMM predict
643Phosphoserine(CDK)HMM predict
652O-linkedHMM predict
653O-linkedHMM predict
653Phosphoserine(IKK)HMM predict
655O-linkedHMM predict
657Phosphoserine(CDC2)HMM predict
668Phosphoserine(CDK)HMM predict
668Phosphoserine(CDC2)HMM predict
696Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_181054
  • Location:chr14 61231991-61284728
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61231423 61231756 333 402
Fos K562GSE19551 61231428 61231987 559 284
Gata2 K562GSE18868 61227399 61227859 460 4363
KLF4 hESGSE17917 61231652 61232118 466 107
Nanog hESGSE18292 61213793 61214611 818 17790
USF1 HepG2E 61230832 61231658 826 747
USF2 HepG2E 61231086 61231595 509 651
hScc1 CdLSGSE12603 61231382 61232479 1097 61
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 61287311 61287765 454 2810
hScc1 BcellGSE12603 61287460 61287747 287 2875
hScc1 BcellGSE12603 61291550 61291955 405 7024
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 61247653 61248811 1158 0
FoxA1 MCF7MACSdata 61248001 61248305 304 0
FoxA1 MCF7MACSdata 61250600 61250800 200 0
H3K4me3 colorectalcancer 61232813 61234148 1335 0
H3ac HepG2E 61233056 61233673 617 0
Myc hESGSE17917 61231642 61232360 718 0
NFkBII GM12892GSE19485 61231146 61233322 2176 0
PHF8 293TGSE20725 61231276 61233211 1935 0
PHF8 HeLaGSE20725 61231409 61233011 1602 0
Pol2 GM12878GSE19551 61231869 61232335 466 0
Rb QuiescentGSE19898 61231915 61232229 314 0
Rb QuiescentGSE19898 61232581 61233084 503 0
TAF HelaGSE8489 61232921 61234226 1305 0
TAF k562GSE8489 61232779 61234226 1447 0
USF2 HepG2E 61251524 61251812 288 0
hScc1 BcellGSE12603 61231423 61232779 1356 0
hScc1 BcellGSE12603 61267484 61267636 152 0
hScc1 CdLSGSE12603 61266842 61267600 758 0
p130 shRbQuiescentGSE19898 61232475 61233212 737 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7i hsa-let-7i 12 20964835
hsa-let-7i* hsa-let-7i 12 20964835
hsa-miR-130b hsa-mir-130b 22 20378769
hsa-miR-130b* hsa-mir-130b 22 20378769
hsa-miR-135a hsa-mir-135a-1 3 20194722
hsa-miR-135a hsa-mir-135a-2 12 20194722
hsa-miR-141 hsa-mir-141 12 20378769
hsa-miR-141* hsa-mir-141 12 20378769
hsa-miR-149 hsa-mir-149 2 20378769
hsa-miR-149* hsa-mir-149 2 20378769
hsa-miR-155 hsa-mir-155 21 20964835
hsa-miR-155 hsa-mir-155 21 20378769
hsa-miR-155* hsa-mir-155 21 20964835
hsa-miR-155* hsa-mir-155 21 20378769
hsa-miR-15b hsa-mir-15b 3 20154725
hsa-miR-15b* hsa-mir-15b 3 20154725
hsa-miR-16 hsa-mir-16-1 13 20154725
hsa-miR-16 hsa-mir-16-2 3 20154725
hsa-miR-17 hsa-mir-17 13 20964835
hsa-miR-17 hsa-mir-17 13 18632605
hsa-miR-17* hsa-mir-17 13 20964835
hsa-miR-17* hsa-mir-17 13 18632605
hsa-miR-18a hsa-mir-18a 13 18632605
hsa-miR-18a* hsa-mir-18a 13 18632605
hsa-miR-195 hsa-mir-195 17 20952681
hsa-miR-195* hsa-mir-195 17 20952681
hsa-miR-199a-5p hsa-mir-199a-1 19 19265035
hsa-miR-199a-5p hsa-mir-199a-2 1 19265035
hsa-miR-199a-5p hsa-mir-199a-1 19 20194722
hsa-miR-199a-5p hsa-mir-199a-2 1 20194722
hsa-miR-199a-5p hsa-mir-199a-1 19 20193759
hsa-miR-199a-5p hsa-mir-199a-2 1 20193759
hsa-miR-19a hsa-mir-19a 13 18632605
hsa-miR-19a* hsa-mir-19a 13 18632605
hsa-miR-19b hsa-mir-19b-1 13 18632605
hsa-miR-19b-1* hsa-mir-19b-1 13 18632605
hsa-miR-200c hsa-mir-200c 12 20378769
hsa-miR-200c* hsa-mir-200c 12 20378769
hsa-miR-205 hsa-mir-205 1 20378769
hsa-miR-20a hsa-mir-20a 13 18632605
hsa-miR-20a hsa-mir-20a 13 19893619
hsa-miR-20a* hsa-mir-20a 13 18632605
hsa-miR-20a* hsa-mir-20a 13 19893619
hsa-miR-20b hsa-mir-20b X 20232316
hsa-miR-20b hsa-mir-20b X 19893619
hsa-miR-20b* hsa-mir-20b X 20232316
hsa-miR-20b* hsa-mir-20b X 19893619
hsa-miR-21 hsa-mir-21 17 20964835
hsa-miR-21 hsa-mir-21 17 20154725
hsa-miR-21* hsa-mir-21 17 20964835
hsa-miR-21* hsa-mir-21 17 20154725
hsa-miR-210 hsa-mir-210 11 20964835
hsa-miR-210 hsa-mir-210 11 20378769
hsa-miR-210 hsa-mir-210 11 20308562
hsa-miR-210 hsa-mir-210 11 19782034
hsa-miR-222 hsa-mir-222 X 20378769
hsa-miR-222* hsa-mir-222 X 20378769
hsa-miR-31 hsa-mir-31 9 20145132
hsa-miR-31* hsa-mir-31 9 20145132
hsa-miR-372 hsa-mir-372 19 20154725
hsa-miR-373 hsa-mir-373 19 20154725
hsa-miR-373* hsa-mir-373 19 20154725
hsa-miR-424 hsa-mir-424 X 20972335
hsa-miR-424* hsa-mir-424 X 20972335
hsa-miR-519c-3p hsa-mir-519c 19 20233879
hsa-miR-519c-5p hsa-mir-519c 19 20233879
hsa-miR-92a hsa-mir-92a-1 13 20964835
hsa-miR-92a hsa-mir-92a-2 X 20964835
hsa-miR-92a hsa-mir-92a-1 13 18632605
hsa-miR-92a hsa-mir-92a-2 X 18632605
hsa-miR-92a-1* hsa-mir-92a-1 13 18632605
hsa-miR-96 hsa-mir-96 7 20378769
hsa-miR-96* hsa-mir-96 7 20378769
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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