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Protein

Forkhead box protein F1

Gene

FOXF1

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

Functioni

Probable transcription activator for a number of lung-specific genes.

Caution

It is uncertain whether Met-1 or Met-26 is the initiator.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi47 – 138Fork-headPROSITE-ProRule annotationAdd BLAST92

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ12946
SIGNORiQ12946

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein F1
Alternative name(s):
Forkhead-related activator 1
Short name:
FREAC-1
Forkhead-related protein FKHL5
Forkhead-related transcription factor 1
Gene namesi
Name:FOXF1
Synonyms:FKHL5, FREAC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103241.6
HGNCiHGNC:3809 FOXF1
MIMi601089 gene
neXtProtiNX_Q12946

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

Involvement in diseasei

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.
See also OMIM:265380
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07101649P → Q in ACDMPV. 1 Publication1
Natural variantiVAR_07101749P → S in ACDMPV. 1 Publication1
Natural variantiVAR_07101852S → F in ACDMPV. 1 Publication1
Natural variantiVAR_07101953Y → C in ACDMPV. 1 Publication1
Natural variantiVAR_07102074I → N in ACDMPV. 1 Publication1
Natural variantiVAR_07659277F → L in ACDMPV. 1 Publication1
Natural variantiVAR_07102185F → I in ACDMPV. 1 Publication1
Natural variantiVAR_07102285F → L in ACDMPV. 1 Publication1
Natural variantiVAR_07102385F → S in ACDMPV. 1 Publication1
Natural variantiVAR_07102486R → W in ACDMPV. 1 Publication1
Natural variantiVAR_07102591G → E in ACDMPV. 1 Publication1
Natural variantiVAR_07102691G → V in ACDMPV. 1 Publication1
Natural variantiVAR_07102796V → M in ACDMPV. 1 Publication1
Natural variantiVAR_07102897R → H in ACDMPV. 1 Publication1
Natural variantiVAR_07102998H → Q in ACDMPV. 1 Publication1
Natural variantiVAR_071030101S → L in ACDMPV. 1 Publication1
Natural variantiVAR_071031106F → L in ACDMPV. 1 Publication1
Natural variantiVAR_071032113 – 119Missing in ACDMPV. 1 Publication7
Natural variantiVAR_071033119G → D in ACDMPV. 1 Publication1
Natural variantiVAR_071034126P → L in ACDMPV. 1 Publication1
Natural variantiVAR_071035139R → L in ACDMPV. 1 Publication1
Natural variantiVAR_071036330R → W in ACDMPV; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761162914Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2294
MalaCardsiFOXF1
MIMi265380 phenotype
OpenTargetsiENSG00000103241
Orphaneti210122 Congenital alveolar capillary dysplasia
PharmGKBiPA28226

Polymorphism and mutation databases

BioMutaiFOXF1
DMDMi238054293

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918321 – 379Forkhead box protein F1Add BLAST379

Proteomic databases

MaxQBiQ12946
PaxDbiQ12946
PeptideAtlasiQ12946
PRIDEiQ12946
ProteomicsDBi59041

PTM databases

iPTMnetiQ12946
PhosphoSitePlusiQ12946

Expressioni

Tissue specificityi

Expressed in lung and placenta.1 Publication

Developmental stagei

Expressed in fetal lung.1 Publication

Gene expression databases

BgeeiENSG00000103241 Expressed in 155 organ(s), highest expression level in esophagogastric junction muscularis propria
CleanExiHS_FOXF1
GenevisibleiQ12946 HS

Organism-specific databases

HPAiHPA028886

Interactioni

Protein-protein interaction databases

BioGridi108583, 23 interactors
IntActiQ12946, 13 interactors
MINTiQ12946
STRINGi9606.ENSP00000262426

Structurei

3D structure databases

ProteinModelPortaliQ12946
SMRiQ12946
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00930000150834
HOGENOMiHOG000060124
HOVERGENiHBG051644
InParanoidiQ12946
KOiK09399
OMAiDQSYLHQ
OrthoDBiEOG091G11UK
PhylomeDBiQ12946
TreeFamiTF351598

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
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
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q12946-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSSAPEKQQP PHGGGGGGGG GGGAAMDPAS SGPSKAKKTN AGIRRPEKPP
60 70 80 90 100
YSYIALIVMA IQSSPTKRLT LSEIYQFLQS RFPFFRGSYQ GWKNSVRHNL
110 120 130 140 150
SLNECFIKLP KGLGRPGKGH YWTIDPASEF MFEEGSFRRR PRGFRRKCQA
160 170 180 190 200
LKPMYSMMNG LGFNHLPDTY GFQGSAGGLS CPPNSLALEG GLGMMNGHLP
210 220 230 240 250
GNVDGMALPS HSVPHLPSNG GHSYMGGCGG AAAGEYPHHD SSVPASPLLP
260 270 280 290 300
TGAGGVMEPH AVYSGSAAAW PPSASAALNS GASYIKQQPL SPCNPAANPL
310 320 330 340 350
SGSLSTHSLE QPYLHQNSHN APAELQGIPR YHSQSPSMCD RKEFVFSFNA
360 370
MASSSMHSAG GGSYYHQQVT YQDIKPCVM
Length:379
Mass (Da):40,122
Last modified:May 26, 2009 - v2
Checksum:iCA3DE3CEFB94FC3E
GO

Sequence cautioni

The sequence AAC50399 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAC61576 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH89442 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG36851 differs from that shown. Reason: Frameshift at several positions.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07101649P → Q in ACDMPV. 1 Publication1
Natural variantiVAR_07101749P → S in ACDMPV. 1 Publication1
Natural variantiVAR_07101852S → F in ACDMPV. 1 Publication1
Natural variantiVAR_07101953Y → C in ACDMPV. 1 Publication1
Natural variantiVAR_07102074I → N in ACDMPV. 1 Publication1
Natural variantiVAR_07659277F → L in ACDMPV. 1 Publication1
Natural variantiVAR_07102185F → I in ACDMPV. 1 Publication1
Natural variantiVAR_07102285F → L in ACDMPV. 1 Publication1
Natural variantiVAR_07102385F → S in ACDMPV. 1 Publication1
Natural variantiVAR_07102486R → W in ACDMPV. 1 Publication1
Natural variantiVAR_07102591G → E in ACDMPV. 1 Publication1
Natural variantiVAR_07102691G → V in ACDMPV. 1 Publication1
Natural variantiVAR_07102796V → M in ACDMPV. 1 Publication1
Natural variantiVAR_07102897R → H in ACDMPV. 1 Publication1
Natural variantiVAR_07102998H → Q in ACDMPV. 1 Publication1
Natural variantiVAR_071030101S → L in ACDMPV. 1 Publication1
Natural variantiVAR_071031106F → L in ACDMPV. 1 Publication1
Natural variantiVAR_071032113 – 119Missing in ACDMPV. 1 Publication7
Natural variantiVAR_071033119G → D in ACDMPV. 1 Publication1
Natural variantiVAR_071034126P → L in ACDMPV. 1 Publication1
Natural variantiVAR_071035139R → L in ACDMPV. 1 Publication1
Natural variantiVAR_071036330R → W in ACDMPV; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761162914Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13219 mRNA Translation: AAC50399.1 Different initiation.
AF085343, AF085342 Genomic DNA Translation: AAC61576.1 Different initiation.
AK314167 mRNA Translation: BAG36851.1 Frameshift.
AC009108 Genomic DNA No translation available.
BC089442 mRNA Translation: AAH89442.1 Different initiation.
CCDSiCCDS10957.2
PIRiS51624
RefSeqiNP_001442.2, NM_001451.2
UniGeneiHs.155591
Hs.690163

Genome annotation databases

EnsembliENST00000262426; ENSP00000262426; ENSG00000103241
GeneIDi2294
KEGGihsa:2294
UCSCiuc002fjl.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13219 mRNA Translation: AAC50399.1 Different initiation.
AF085343, AF085342 Genomic DNA Translation: AAC61576.1 Different initiation.
AK314167 mRNA Translation: BAG36851.1 Frameshift.
AC009108 Genomic DNA No translation available.
BC089442 mRNA Translation: AAH89442.1 Different initiation.
CCDSiCCDS10957.2
PIRiS51624
RefSeqiNP_001442.2, NM_001451.2
UniGeneiHs.155591
Hs.690163

3D structure databases

ProteinModelPortaliQ12946
SMRiQ12946
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108583, 23 interactors
IntActiQ12946, 13 interactors
MINTiQ12946
STRINGi9606.ENSP00000262426

PTM databases

iPTMnetiQ12946
PhosphoSitePlusiQ12946

Polymorphism and mutation databases

BioMutaiFOXF1
DMDMi238054293

Proteomic databases

MaxQBiQ12946
PaxDbiQ12946
PeptideAtlasiQ12946
PRIDEiQ12946
ProteomicsDBi59041

Protocols and materials databases

DNASUi2294
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262426; ENSP00000262426; ENSG00000103241
GeneIDi2294
KEGGihsa:2294
UCSCiuc002fjl.4 human

Organism-specific databases

CTDi2294
DisGeNETi2294
EuPathDBiHostDB:ENSG00000103241.6
GeneCardsiFOXF1
HGNCiHGNC:3809 FOXF1
HPAiHPA028886
MalaCardsiFOXF1
MIMi265380 phenotype
601089 gene
neXtProtiNX_Q12946
OpenTargetsiENSG00000103241
Orphaneti210122 Congenital alveolar capillary dysplasia
PharmGKBiPA28226
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00930000150834
HOGENOMiHOG000060124
HOVERGENiHBG051644
InParanoidiQ12946
KOiK09399
OMAiDQSYLHQ
OrthoDBiEOG091G11UK
PhylomeDBiQ12946
TreeFamiTF351598

Enzyme and pathway databases

SignaLinkiQ12946
SIGNORiQ12946

Miscellaneous databases

GeneWikiiFOXF1
GenomeRNAii2294
PROiPR:Q12946
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103241 Expressed in 155 organ(s), highest expression level in esophagogastric junction muscularis propria
CleanExiHS_FOXF1
GenevisibleiQ12946 HS

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
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
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFOXF1_HUMAN
AccessioniPrimary (citable) accession number: Q12946
Secondary accession number(s): B2RAF4, Q5FWE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 26, 2009
Last modified: November 7, 2018
This is version 160 of the entry and version 2 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

Documents

  1. Human chromosome 16
    Human chromosome 16: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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