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Q12946

- FOXF1_HUMAN

UniProt

Q12946 - FOXF1_HUMAN

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Protein

Forkhead box protein F1

Gene

FOXF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi47 – 13892Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  3. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
  4. sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  1. blood vessel development Source: DFLAT
  2. branching involved in open tracheal system development Source: DFLAT
  3. cardiac left ventricle morphogenesis Source: DFLAT
  4. cellular response to cytokine stimulus Source: Ensembl
  5. cellular response to organic cyclic compound Source: Ensembl
  6. detection of wounding Source: Ensembl
  7. determination of left/right symmetry Source: Ensembl
  8. digestive tract development Source: DFLAT
  9. ductus arteriosus closure Source: DFLAT
  10. embryonic digestive tract morphogenesis Source: DFLAT
  11. embryonic ectodermal digestive tract morphogenesis Source: DFLAT
  12. embryonic foregut morphogenesis Source: Ensembl
  13. endocardial cushion development Source: DFLAT
  14. epithelial cell differentiation involved in mammary gland alveolus development Source: Ensembl
  15. epithelial tube branching involved in lung morphogenesis Source: Ensembl
  16. establishment of epithelial cell apical/basal polarity Source: Ensembl
  17. extracellular matrix organization Source: Ensembl
  18. heart development Source: DFLAT
  19. in utero embryonic development Source: DFLAT
  20. lateral mesodermal cell differentiation Source: Ensembl
  21. lung alveolus development Source: Ensembl
  22. lung development Source: DFLAT
  23. lung lobe morphogenesis Source: Ensembl
  24. lung vasculature development Source: DFLAT
  25. mesenchyme migration Source: Ensembl
  26. midgut development Source: DFLAT
  27. morphogenesis of a branching structure Source: DFLAT
  28. negative regulation of inflammatory response Source: Ensembl
  29. negative regulation of mast cell degranulation Source: Ensembl
  30. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  31. pancreas development Source: DFLAT
  32. positive regulation of cell migration Source: Ensembl
  33. positive regulation of cell-substrate adhesion Source: Ensembl
  34. positive regulation of mesenchymal cell proliferation Source: Ensembl
  35. positive regulation of transcription, DNA-templated Source: UniProtKB
  36. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  37. regulation of smooth muscle cell differentiation Source: Ensembl
  38. renal system development Source: DFLAT
  39. respiratory tube development Source: DFLAT
  40. right lung morphogenesis Source: Ensembl
  41. single organismal cell-cell adhesion Source: Ensembl
  42. smoothened signaling pathway Source: Ensembl
  43. smooth muscle cell differentiation Source: Ensembl
  44. somitogenesis Source: Ensembl
  45. trachea development Source: Ensembl
  46. ureter development Source: DFLAT
  47. vasculogenesis Source: Ensembl
  48. venous blood vessel development Source: DFLAT
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ12946.

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:3809. FOXF1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. transcription factor complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]: A 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491P → Q in ACDMPV. 1 Publication
VAR_071016
Natural varianti49 – 491P → S in ACDMPV. 1 Publication
VAR_071017
Natural varianti52 – 521S → F in ACDMPV. 1 Publication
VAR_071018
Natural varianti53 – 531Y → C in ACDMPV. 1 Publication
VAR_071019
Natural varianti74 – 741I → N in ACDMPV. 1 Publication
VAR_071020
Natural varianti85 – 851F → I in ACDMPV. 1 Publication
VAR_071021
Natural varianti85 – 851F → L in ACDMPV. 1 Publication
VAR_071022
Natural varianti85 – 851F → S in ACDMPV. 1 Publication
VAR_071023
Natural varianti86 – 861R → W in ACDMPV. 1 Publication
VAR_071024
Natural varianti91 – 911G → E in ACDMPV. 1 Publication
VAR_071025
Natural varianti91 – 911G → V in ACDMPV. 1 Publication
VAR_071026
Natural varianti96 – 961V → M in ACDMPV. 1 Publication
VAR_071027
Natural varianti97 – 971R → H in ACDMPV. 1 Publication
VAR_071028
Natural varianti98 – 981H → Q in ACDMPV. 1 Publication
VAR_071029
Natural varianti101 – 1011S → L in ACDMPV. 1 Publication
VAR_071030
Natural varianti106 – 1061F → L in ACDMPV. 1 Publication
VAR_071031
Natural varianti113 – 1197Missing in ACDMPV. 1 Publication
VAR_071032
Natural varianti119 – 1191G → D in ACDMPV. 1 Publication
VAR_071033
Natural varianti126 – 1261P → L in ACDMPV. 1 Publication
VAR_071034
Natural varianti139 – 1391R → L in ACDMPV. 1 Publication
VAR_071035
Natural varianti330 – 3301R → W in ACDMPV; unknown pathological significance. 1 Publication
VAR_071036

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi265380. phenotype.
Orphaneti210122. Congenital alveolar capillary dysplasia.
PharmGKBiPA28226.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 379379Forkhead box protein F1PRO_0000091832Add
BLAST

Proteomic databases

MaxQBiQ12946.
PaxDbiQ12946.
PRIDEiQ12946.

PTM databases

PhosphoSiteiQ12946.

Expressioni

Tissue specificityi

Expressed in lung and placenta.1 Publication

Developmental stagei

Expressed in fetal lung.1 Publication

Gene expression databases

BgeeiQ12946.
CleanExiHS_FOXF1.
GenevestigatoriQ12946.

Organism-specific databases

HPAiHPA028886.

Interactioni

Protein-protein interaction databases

BioGridi108583. 2 interactions.
STRINGi9606.ENSP00000262426.

Structurei

3D structure databases

ProteinModelPortaliQ12946.
SMRiQ12946. Positions 48-137.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

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

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118794.
HOGENOMiHOG000060124.
HOVERGENiHBG051644.
InParanoidiQ12946.
KOiK09399.
OMAiMTAEVQQ.
OrthoDBiEOG7D59PX.
PhylomeDBiQ12946.
TreeFamiTF351598.

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]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

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 BAG36851.1 differs from that shown. Reason: Frameshift at several positions.
The sequence AAC50399.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAC61576.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAH89442.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491P → Q in ACDMPV. 1 Publication
VAR_071016
Natural varianti49 – 491P → S in ACDMPV. 1 Publication
VAR_071017
Natural varianti52 – 521S → F in ACDMPV. 1 Publication
VAR_071018
Natural varianti53 – 531Y → C in ACDMPV. 1 Publication
VAR_071019
Natural varianti74 – 741I → N in ACDMPV. 1 Publication
VAR_071020
Natural varianti85 – 851F → I in ACDMPV. 1 Publication
VAR_071021
Natural varianti85 – 851F → L in ACDMPV. 1 Publication
VAR_071022
Natural varianti85 – 851F → S in ACDMPV. 1 Publication
VAR_071023
Natural varianti86 – 861R → W in ACDMPV. 1 Publication
VAR_071024
Natural varianti91 – 911G → E in ACDMPV. 1 Publication
VAR_071025
Natural varianti91 – 911G → V in ACDMPV. 1 Publication
VAR_071026
Natural varianti96 – 961V → M in ACDMPV. 1 Publication
VAR_071027
Natural varianti97 – 971R → H in ACDMPV. 1 Publication
VAR_071028
Natural varianti98 – 981H → Q in ACDMPV. 1 Publication
VAR_071029
Natural varianti101 – 1011S → L in ACDMPV. 1 Publication
VAR_071030
Natural varianti106 – 1061F → L in ACDMPV. 1 Publication
VAR_071031
Natural varianti113 – 1197Missing in ACDMPV. 1 Publication
VAR_071032
Natural varianti119 – 1191G → D in ACDMPV. 1 Publication
VAR_071033
Natural varianti126 – 1261P → L in ACDMPV. 1 Publication
VAR_071034
Natural varianti139 – 1391R → L in ACDMPV. 1 Publication
VAR_071035
Natural varianti330 – 3301R → W in ACDMPV; unknown pathological significance. 1 Publication
VAR_071036

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Genome annotation databases

EnsembliENST00000262426; ENSP00000262426; ENSG00000103241.
GeneIDi2294.
KEGGihsa:2294.
UCSCiuc002fjl.3. human.

Polymorphism databases

DMDMi238054293.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS10957.2.
PIRi S51624.
RefSeqi NP_001442.2. NM_001451.2.
UniGenei Hs.155591.

3D structure databases

ProteinModelPortali Q12946.
SMRi Q12946. Positions 48-137.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108583. 2 interactions.
STRINGi 9606.ENSP00000262426.

PTM databases

PhosphoSitei Q12946.

Polymorphism databases

DMDMi 238054293.

Proteomic databases

MaxQBi Q12946.
PaxDbi Q12946.
PRIDEi Q12946.

Protocols and materials databases

DNASUi 2294.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262426 ; ENSP00000262426 ; ENSG00000103241 .
GeneIDi 2294.
KEGGi hsa:2294.
UCSCi uc002fjl.3. human.

Organism-specific databases

CTDi 2294.
GeneCardsi GC16P086544.
HGNCi HGNC:3809. FOXF1.
HPAi HPA028886.
MIMi 265380. phenotype.
601089. gene.
neXtProti NX_Q12946.
Orphaneti 210122. Congenital alveolar capillary dysplasia.
PharmGKBi PA28226.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
GeneTreei ENSGT00760000118794.
HOGENOMi HOG000060124.
HOVERGENi HBG051644.
InParanoidi Q12946.
KOi K09399.
OMAi MTAEVQQ.
OrthoDBi EOG7D59PX.
PhylomeDBi Q12946.
TreeFami TF351598.

Enzyme and pathway databases

SignaLinki Q12946.

Miscellaneous databases

GeneWikii FOXF1.
GenomeRNAii 2294.
NextBioi 9311.
PROi Q12946.
SOURCEi Search...

Gene expression databases

Bgeei Q12946.
CleanExi HS_FOXF1.
Genevestigatori Q12946.

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 PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2."
    Hellqvist M., Mahlapuu M., Samuelsson L., Enerbaeck S., Carlsson P.
    J. Biol. Chem. 271:4482-4490(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROBABLE FUNCTION.
    Tissue: Lung.
  2. "FREAC-1 contains a cell-type-specific transcriptional activation domain and is expressed in epithelial-mesenchymal interfaces."
    Mahlapuu M., Pelto-Huikko M., Aitola M., Enerbaeck S., Carlsson P.
    Dev. Biol. 202:183-195(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  4. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Chondrosarcoma.
  6. "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
    Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
    EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Fetus.
  7. Cited for: INVOLVEMENT IN ACDMPV.
  8. "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain."
    Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E.
    , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
    Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.

Entry informationi

Entry nameiFOXF1_HUMAN
AccessioniPrimary (citable) accession number: Q12946
Secondary accession number(s): B2RAF4, Q5FWE5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 26, 2009
Last modified: October 29, 2014
This is version 123 of the entry and version 2 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

Caution

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

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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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