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Protein

Forkhead box protein D1

Gene

FOXD1

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

Functioni

Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi124 – 215Fork-headPROSITE-ProRule annotationAdd BLAST92

GO - Molecular functioni

  • DNA binding Source: MGI
  • DNA binding, bending Source: UniProtKB
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: GO_Central
  • sequence-specific DNA binding Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ16676.

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein D1
Alternative name(s):
Forkhead-related protein FKHL8
Forkhead-related transcription factor 4
Short name:
FREAC-4
Gene namesi
Name:FOXD1
Synonyms:FKHL8, FREAC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:3802. FOXD1.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi2297.
OpenTargetsiENSG00000251493.
PharmGKBiPA28219.

Polymorphism and mutation databases

BioMutaiFOXD1.
DMDMi2494490.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918111 – 465Forkhead box protein D1Add BLAST465

Proteomic databases

EPDiQ16676.
PaxDbiQ16676.
PeptideAtlasiQ16676.
PRIDEiQ16676.

PTM databases

iPTMnetiQ16676.
PhosphoSitePlusiQ16676.

Expressioni

Gene expression databases

CleanExiHS_FOXD1.
GenevisibleiQ16676. HS.

Interactioni

Protein-protein interaction databases

BioGridi108586. 2 interactors.
STRINGi9606.ENSP00000462795.

Structurei

3D structure databases

ProteinModelPortaliQ16676.
SMRiQ16676.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi26 – 34Poly-Glu9
Compositional biasi39 – 43Poly-Gly5
Compositional biasi52 – 57Poly-Arg6
Compositional biasi69 – 72Poly-Glu4
Compositional biasi73 – 76Poly-Asp4
Compositional biasi97 – 113Poly-GlyAdd BLAST17
Compositional biasi231 – 234Poly-Ala4
Compositional biasi252 – 256Poly-Ala5
Compositional biasi259 – 266Poly-Pro8
Compositional biasi293 – 303Poly-AlaAdd BLAST11
Compositional biasi309 – 315Poly-Pro7
Compositional biasi375 – 390Poly-AlaAdd BLAST16
Compositional biasi428 – 434Poly-Ala7

Phylogenomic databases

eggNOGiKOG2294. Eukaryota.
COG5025. LUCA.
GeneTreeiENSGT00760000118904.
HOVERGENiHBG051641.
InParanoidiQ16676.
KOiK09397.
OMAiGYGPYGC.
OrthoDBiEOG091G0HW9.

Family and domain databases

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.
IPR011991. WHTH_DNA-bd_dom.
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.

Q16676-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTLSTEMSDA SGLAEETDID VVGEGEDEED EEEEDDDEGG GGGPRLAVPA
60 70 80 90 100
QRRRRRRSYA GEDELEDLEE EEDDDDILLA PPAGGSPAPP GPAPAAGAGA
110 120 130 140 150
GGGGGGGGAG GGGSAGSGAK NPLVKPPYSY IALITMAILQ SPKKRLTLSE
160 170 180 190 200
ICEFISGRFP YYREKFPAWQ NSIRHNLSLN DCFVKIPREP GNPGKGNYWT
210 220 230 240 250
LDPESADMFD NGSFLRRRKR FKRQPLLPPN AAAAESLLLR GAGAAGGAGD
260 270 280 290 300
PAAAAALFPP APPPPPHAYG YGPYGCGYGL QLPPYAPPSA LFAAAAAAAA
310 320 330 340 350
AAAFHPHSPP PPPPPHGAAA ELARTAFGYR PHPLGAALPG PLPASAAKAG
360 370 380 390 400
GPGASALARS PFSIESIIGG SLGPAAAAAA AAQAAAAAQA SPSPSPVAAP
410 420 430 440 450
PAPGSSGGGC AAQAAVGPAA ALTRSLVAAA AAAASSVSSS AALGTLHQGT
460
ALSSVENFTA RISNC
Length:465
Mass (Da):46,140
Last modified:November 1, 1997 - v1
Checksum:iD3E7854909CCBFAE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07759655R → P1 PublicationCorresponds to variant dbSNP:rs775281482Ensembl.1
Natural variantiVAR_07759788A → G1 PublicationCorresponds to variant dbSNP:rs7705335Ensembl.1
Natural variantiVAR_077598228P → L1 PublicationCorresponds to variant dbSNP:rs562222810Ensembl.1
Natural variantiVAR_077599326A → T1 PublicationCorresponds to variant dbSNP:rs552595262Ensembl.1
Natural variantiVAR_077600336A → V1 Publication1
Natural variantiVAR_077601352P → R1 Publication1
Natural variantiVAR_077602356A → G Polymorphism; decreased activation of transcription from PGF and C3 promoters. 1 Publication1
Natural variantiVAR_077603364I → M Polymorphism; increased activation of transcription from the C3 promoter but no effect on the PGF promoter. 1 Publication1
Natural variantiVAR_077604383 – 387Missing 1 Publication5
Natural variantiVAR_077605396P → L1 PublicationCorresponds to variant dbSNP:rs540644822Ensembl.1
Natural variantiVAR_077606437V → I1 Publication1
Natural variantiVAR_077607442A → S1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U59831 Genomic DNA. Translation: AAC50660.1.
U59832 mRNA. Translation: AAC50661.1.
U13222 mRNA. Translation: AAA92039.1.
CCDSiCCDS75259.1.
PIRiG02738.
S51627.
RefSeqiNP_004463.1. NM_004472.2.
UniGeneiHs.519385.

Genome annotation databases

EnsembliENST00000615637; ENSP00000481581; ENSG00000251493.
GeneIDi2297.
KEGGihsa:2297.
UCSCiuc032uyj.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U59831 Genomic DNA. Translation: AAC50660.1.
U59832 mRNA. Translation: AAC50661.1.
U13222 mRNA. Translation: AAA92039.1.
CCDSiCCDS75259.1.
PIRiG02738.
S51627.
RefSeqiNP_004463.1. NM_004472.2.
UniGeneiHs.519385.

3D structure databases

ProteinModelPortaliQ16676.
SMRiQ16676.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108586. 2 interactors.
STRINGi9606.ENSP00000462795.

PTM databases

iPTMnetiQ16676.
PhosphoSitePlusiQ16676.

Polymorphism and mutation databases

BioMutaiFOXD1.
DMDMi2494490.

Proteomic databases

EPDiQ16676.
PaxDbiQ16676.
PeptideAtlasiQ16676.
PRIDEiQ16676.

Protocols and materials databases

DNASUi2297.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000615637; ENSP00000481581; ENSG00000251493.
GeneIDi2297.
KEGGihsa:2297.
UCSCiuc032uyj.2. human.

Organism-specific databases

CTDi2297.
DisGeNETi2297.
GeneCardsiFOXD1.
HGNCiHGNC:3802. FOXD1.
MIMi601091. gene.
neXtProtiNX_Q16676.
OpenTargetsiENSG00000251493.
PharmGKBiPA28219.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2294. Eukaryota.
COG5025. LUCA.
GeneTreeiENSGT00760000118904.
HOVERGENiHBG051641.
InParanoidiQ16676.
KOiK09397.
OMAiGYGPYGC.
OrthoDBiEOG091G0HW9.

Enzyme and pathway databases

SignaLinkiQ16676.

Miscellaneous databases

ChiTaRSiFOXD1. human.
GenomeRNAii2297.
PROiPR:Q16676.
SOURCEiSearch...

Gene expression databases

CleanExiHS_FOXD1.
GenevisibleiQ16676. HS.

Family and domain databases

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.
IPR011991. WHTH_DNA-bd_dom.
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 nameiFOXD1_HUMAN
AccessioniPrimary (citable) accession number: Q16676
Secondary accession number(s): Q12949
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: June 7, 2017
This is version 127 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

Documents

  1. Human chromosome 5
    Human chromosome 5: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.