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O75593

- FOXH1_HUMAN

UniProt

O75593 - FOXH1_HUMAN

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Protein

Forkhead box protein H1

Gene
FOXH1, FAST1, FAST2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi32 – 12897Fork-head1 PublicationAdd
BLAST

GO - Molecular functioni

  1. androgen receptor binding Source: BHF-UCL
  2. bHLH transcription factor binding Source: BHF-UCL
  3. co-SMAD binding Source: BHF-UCL
  4. DNA binding, bending Source: RefGenome
  5. double-stranded DNA binding Source: RefGenome
  6. enhancer binding Source: BHF-UCL
  7. protein binding Source: UniProtKB
  8. protein domain specific binding Source: UniProtKB
  9. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: RefGenome
  10. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  11. RNA polymerase II transcription cofactor activity Source: Ensembl
  12. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  13. R-SMAD binding Source: BHF-UCL
  14. sequence-specific DNA binding Source: UniProtKB
  15. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  16. SMAD binding Source: BHF-UCL
  17. transcription factor binding Source: RefGenome
  18. transcription regulatory region DNA binding Source: BHF-UCL

GO - Biological processi

  1. aorta morphogenesis Source: Ensembl
  2. axial mesoderm development Source: RefGenome
  3. blood vessel development Source: RefGenome
  4. cardiac right ventricle morphogenesis Source: Ensembl
  5. cell migration involved in gastrulation Source: RefGenome
  6. embryonic heart tube anterior/posterior pattern specification Source: RefGenome
  7. floor plate formation Source: RefGenome
  8. heart looping Source: RefGenome
  9. negative regulation of androgen receptor activity Source: BHF-UCL
  10. negative regulation of androgen receptor signaling pathway Source: BHF-UCL
  11. negative regulation of intracellular estrogen receptor signaling pathway Source: BHF-UCL
  12. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
  13. nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Source: BHF-UCL
  14. outflow tract morphogenesis Source: Ensembl
  15. positive regulation of transcription, DNA-templated Source: UniProtKB
  16. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  17. secondary heart field specification Source: Ensembl
  18. specification of organ position Source: RefGenome
  19. transcription from RNA polymerase II promoter Source: GOC
  20. transforming growth factor beta receptor signaling pathway Source: UniProtKB
  21. ventricular trabecula myocardium morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_111057. Signaling by NODAL.
REACT_150238. Signaling by Activin.
SignaLinkiO75593.

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:3814. FOXH1.

Subcellular locationi

GO - Cellular componenti

  1. activin responsive factor complex Source: BHF-UCL
  2. nuclear chromatin Source: BHF-UCL
  3. nucleoplasm Source: Reactome
  4. nucleus Source: UniProtKB
  5. transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi83 – 831H → R: Loss of activity. 1 Publication

Organism-specific databases

Orphaneti93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA28231.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 365365Forkhead box protein H1PRO_0000091842Add
BLAST

Proteomic databases

PaxDbiO75593.
PRIDEiO75593.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiO75593.
CleanExiHS_FOXH1.
GenevestigatoriO75593.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1759806,EBI-389883

Protein-protein interaction databases

BioGridi114442. 9 interactions.
IntActiO75593. 3 interactions.
MINTiMINT-199205.
STRINGi9606.ENSP00000366534.

Structurei

3D structure databases

ProteinModelPortaliO75593.
SMRiO75593. Positions 33-111.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni273 – 35482SMAD-interaction domain (SID)Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi277 – 2815Fast/FoxH1 motif 1 (FM1)
Motifi287 – 2937Fast/FoxH1 motif 2 (FM2)
Motifi327 – 34822SMAD interaction motif (SIM)Add
BLAST

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.

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5025.
HOGENOMiHOG000112630.
HOVERGENiHBG051647.
InParanoidiO75593.
KOiK09400.
OMAiNLSSNPC.
OrthoDBiEOG76HQ1T.
PhylomeDBiO75593.
TreeFamiTF350620.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O75593-1 [UniParc]FASTAAdd to Basket

« Hide

MGPCSGSRLG PPEAESPSQP PKRRKKRYLR HDKPPYTYLA MIALVIQAAP    50
SRRLKLAQII RQVQAVFPFF REDYEGWKDS IRHNLSSNRC FRKVPKDPAK 100
PQAKGNFWAV DVSLIPAEAL RLQNTALCRR WQNGGARGAF AKDLGPYVLH 150
GRPYRPPSPP PPPSEGFSIK SLLGGSGEGA PWPGLAPQSS PVPAGTGNSG 200
EEAVPTPPLP SSERPLWPLC PLPGPTRVEG ETVQGGAIGP STLSPEPRAW 250
PLHLLQGTAV PGGRSSGGHR ASLWGQLPTS YLPIYTPNVV MPLAPPPTSC 300
PQCPSTSPAY WGVAPETRGP PGLLCDLDAL FQGVPPNKSI YDVWVSHPRD 350
LAAPGPGWLL SWCSL 365
Length:365
Mass (Da):39,257
Last modified:November 1, 1998 - v1
Checksum:i27A13F39C089F722
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131S → T in colorectal cancer. 1 Publication
Corresponds to variant rs144830740 [ dbSNP | Ensembl ].
VAR_011381
Natural varianti125 – 1251T → S in colorectal cancer. 1 Publication
Corresponds to variant rs112028242 [ dbSNP | Ensembl ].
VAR_011382

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF076292 mRNA. Translation: AAC34303.1 .
CH471162 Genomic DNA. Translation: EAW82083.1 .
CH471162 Genomic DNA. Translation: EAW82084.1 .
CCDSi CCDS6428.1.
RefSeqi NP_003914.1. NM_003923.2.
UniGenei Hs.708365.

3D structure databases

ProteinModelPortali O75593.
SMRi O75593. Positions 33-111.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114442. 9 interactions.
IntActi O75593. 3 interactions.
MINTi MINT-199205.
STRINGi 9606.ENSP00000366534.

Proteomic databases

PaxDbi O75593.
PRIDEi O75593.

Protocols and materials databases

DNASUi 8928.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377317 ; ENSP00000366534 ; ENSG00000160973 .
GeneIDi 8928.
KEGGi hsa:8928.
UCSCi uc003zdc.3. human.

Organism-specific databases

CTDi 8928.
GeneCardsi GC08M145698.
GeneReviewsi FOXH1.
HGNCi HGNC:3814. FOXH1.
MIMi 603621. gene.
neXtProti NX_O75593.
Orphaneti 93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBi PA28231.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
HOGENOMi HOG000112630.
HOVERGENi HBG051647.
InParanoidi O75593.
KOi K09400.
OMAi NLSSNPC.
OrthoDBi EOG76HQ1T.
PhylomeDBi O75593.
TreeFami TF350620.

Enzyme and pathway databases

Reactomei REACT_111057. Signaling by NODAL.
REACT_150238. Signaling by Activin.
SignaLinki O75593.

Miscellaneous databases

GeneWikii FOXH1.
GenomeRNAii 8928.
NextBioi 33570.
PROi O75593.
SOURCEi Search...

Gene expression databases

Bgeei O75593.
CleanExi HS_FOXH1.
Genevestigatori O75593.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00250. Fork_head. 1 hit.
[Graphical view ]
PRINTSi PR00053. FORKHEAD.
SMARTi SM00339. FH. 1 hit.
[Graphical view ]
PROSITEi PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of human FAST-1, a TGF beta and activin signal transducer."
    Zhou S., Zawel L., Lengauer C., Kinzler K.W., Vogelstein B.
    Mol. Cell 2:121-127(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DNA-BINDING, INTERACTION WITH SMAD2, TISSUE SPECIFICITY, MUTAGENESIS OF HIS-83, VARIANTS COLORECTAL CANCER THR-113 AND COLORECTAL CANCER SER-125.
    Tissue: Colon adenocarcinoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiFOXH1_HUMAN
AccessioniPrimary (citable) accession number: O75593
Secondary accession number(s): D3DWM4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: September 3, 2014
This is version 126 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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