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Protein

Forkhead box protein H1

Gene

FOXH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi32 – 128Fork-headPROSITE-ProRule annotationAdd BLAST97

GO - Molecular functioni

  • androgen receptor binding Source: BHF-UCL
  • bHLH transcription factor binding Source: BHF-UCL
  • co-SMAD binding Source: BHF-UCL
  • DNA binding transcription factor activity Source: BHF-UCL
  • enhancer binding Source: BHF-UCL
  • protein domain specific binding Source: UniProtKB
  • RNA polymerase II transcription cofactor activity Source: Ensembl
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • R-SMAD binding Source: BHF-UCL
  • sequence-specific DNA binding Source: UniProtKB
  • SMAD binding Source: BHF-UCL
  • transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
  • transcriptional activator activity, RNA polymerase II transcription factor binding Source: Ensembl
  • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: GO_Central
  • transcription regulatory region DNA binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1181150 Signaling by NODAL
R-HSA-1502540 Signaling by Activin
SignaLinkiO75593
SIGNORiO75593

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein H1
Alternative name(s):
Forkhead activin signal transducer 1
Short name:
Fast-1
Short name:
hFAST-1
Forkhead activin signal transducer 2
Short name:
Fast-2
Gene namesi
Name:FOXH1
Synonyms:FAST1, FAST2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000160973.7
HGNCiHGNC:3814 FOXH1
MIMi603621 gene
neXtProtiNX_O75593

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi83H → R: Loss of activity. 1 Publication1

Organism-specific databases

DisGeNETi8928
GeneReviewsiFOXH1
MalaCardsiFOXH1
OpenTargetsiENSG00000160973
Orphaneti93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA28231

Polymorphism and mutation databases

BioMutaiFOXH1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918421 – 365Forkhead box protein H1Add BLAST365

Proteomic databases

EPDiO75593
PaxDbiO75593
PeptideAtlasiO75593
PRIDEiO75593

PTM databases

iPTMnetiO75593
PhosphoSitePlusiO75593

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000160973
CleanExiHS_FOXH1
GenevisibleiO75593 HS

Interactioni

Subunit structurei

Interacts with the MH2 domains of SMAD2 and SMAD3.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • androgen receptor binding Source: BHF-UCL
  • bHLH transcription factor binding Source: BHF-UCL
  • co-SMAD binding Source: BHF-UCL
  • protein domain specific binding Source: UniProtKB
  • R-SMAD binding Source: BHF-UCL
  • SMAD binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi11444240 interactors.
CORUMiO75593
IntActiO75593 85 interactors.
MINTiO75593
STRINGi9606.ENSP00000366534

Structurei

3D structure databases

ProteinModelPortaliO75593
SMRiO75593
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni273 – 354SMAD-interaction domain (SID)Add BLAST82

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi277 – 281Fast/FoxH1 motif 1 (FM1)5
Motifi287 – 293Fast/FoxH1 motif 2 (FM2)7
Motifi327 – 348SMAD interaction motif (SIM)Add BLAST22

Domaini

The FM region is required for binding SMAD2/SMAD4 complexes. FM2 is more effective than FM1 and only interacts with phosphorylated SMAD2 that is in an activated SMAD complex (By similarity).By similarity

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00900000140781
HOGENOMiHOG000112630
HOVERGENiHBG051647
InParanoidiO75593
KOiK09400
OMAiHRASLWG
OrthoDBiEOG091G0X2S
PhylomeDBiO75593
TreeFamiTF350620

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.101 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

Sequencei

Sequence statusi: Complete.

O75593-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGPCSGSRLG PPEAESPSQP PKRRKKRYLR HDKPPYTYLA MIALVIQAAP
60 70 80 90 100
SRRLKLAQII RQVQAVFPFF REDYEGWKDS IRHNLSSNRC FRKVPKDPAK
110 120 130 140 150
PQAKGNFWAV DVSLIPAEAL RLQNTALCRR WQNGGARGAF AKDLGPYVLH
160 170 180 190 200
GRPYRPPSPP PPPSEGFSIK SLLGGSGEGA PWPGLAPQSS PVPAGTGNSG
210 220 230 240 250
EEAVPTPPLP SSERPLWPLC PLPGPTRVEG ETVQGGAIGP STLSPEPRAW
260 270 280 290 300
PLHLLQGTAV PGGRSSGGHR ASLWGQLPTS YLPIYTPNVV MPLAPPPTSC
310 320 330 340 350
PQCPSTSPAY WGVAPETRGP PGLLCDLDAL FQGVPPNKSI YDVWVSHPRD
360
LAAPGPGWLL SWCSL
Length:365
Mass (Da):39,257
Last modified:November 1, 1998 - v1
Checksum:i27A13F39C089F722
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011381113S → T in colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs144830740Ensembl.1
Natural variantiVAR_011382125T → S in colorectal cancer. 1 PublicationCorresponds to variant dbSNP:rs112028242Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF076292 mRNA Translation: AAC34303.1
CH471162 Genomic DNA Translation: EAW82083.1
CH471162 Genomic DNA Translation: EAW82084.1
CCDSiCCDS6428.1
RefSeqiNP_003914.1, NM_003923.2
UniGeneiHs.708365

Genome annotation databases

EnsembliENST00000377317; ENSP00000366534; ENSG00000160973
GeneIDi8928
KEGGihsa:8928
UCSCiuc003zdc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFOXH1_HUMAN
AccessioniPrimary (citable) accession number: O75593
Secondary accession number(s): D3DWM4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: March 28, 2018
This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome