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Q96NZ1 (FOXN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Forkhead box protein N4
Gene names
Name:FOXN4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length517 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcription factor essential for neural and some non-neural tissues development, such as retina and lung respectively. Binds to an 11-bp consensus sequence containing the invariant tetranucleotide 5'-ACGC-3'. During development of the central nervous system, is required to specify the amacrine and horizontal cell fates from multipotent retinal progenitors while suppressing the alternative photoreceptor cell fates through activating DLL4-NOTCH signaling. Also acts synergistically with ASCL1/MASH1 to activate DLL4-NOTCH signaling and drive commitment of p2 progenitors to the V2b interneuron fates during spinal cord neurogenesis. In development of non-neural tissues, plays an essential role in the specification of the atrioventricular canal and is indirectly required for patterning the distal airway during lung development By similarity.

Subcellular location

Nucleus By similarity.

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processNeurogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processamacrine cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

atrioventricular canal development

Inferred from sequence or structural similarity. Source: UniProtKB

heart looping

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of heart contraction

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

retina layer formation

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

ventral spinal cord interneuron fate commitment

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentnucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionchromatin binding

Inferred from sequence or structural similarity PubMed 22323600. Source: UniProtKB

enhancer sequence-specific DNA binding

Inferred from direct assay PubMed 22323600. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96NZ1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96NZ1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     119-119: S → SQ
     157-257: CPPVGLYGPP...NKCFEKVENK → LSDRHGPEEQ...GCHPPEYGQP
     258-517: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96NZ1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: MIESDTSSIM...KHYPKPIYSY → MPGLPCPALPCPAPPPAP

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 517517Forkhead box protein N4
PRO_0000091870

Regions

DNA binding193 – 28997Fork-head
Compositional bias70 – 176107Pro-rich

Natural variations

Alternative sequence1 – 198198MIESD…PIYSY → MPGLPCPALPCPAPPPAP in isoform 3.
VSP_054325
Alternative sequence1191S → SQ in isoform 2.
VSP_017227
Alternative sequence157 – 257101CPPVG…KVENK → LSDRHGPEEQQDRQPACERD LQLHEGALPLLQDGPRRVEE LGAAQPVSEQVLREGGEQDE RLLPQGLPVGSEPGPHRQDG GGDAQVEEEGPGCHPPEYGQ P in isoform 2.
VSP_017228
Alternative sequence258 – 517260Missing in isoform 2.
VSP_017229
Natural variant1371P → L.
Corresponds to variant rs11609341 [ dbSNP | Ensembl ].
VAR_059300

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 19, 2005. Version 2.
Checksum: D4150E6C4F1363EF

FASTA51755,215
        10         20         30         40         50         60 
MIESDTSSIM SGIIRNSGQN HHPSPQEYRL LATTSDDDLP GDLQSLSWLT AVDVPRLQQM 

        70         80         90        100        110        120 
ASGRVDLGGP CVPHPHPGAL AGVADLHVGA TPSPLLHGPA GMAPRGMPGL GPITGHRDSM 

       130        140        150        160        170        180 
SQFPVGGQPS SGLQDPPHLY SPATQPQFPL PPGAQQCPPV GLYGPPFGVR PPYPQPHVAV 

       190        200        210        220        230        240 
HSSQELHPKH YPKPIYSYSC LIAMALKNSK TGSLPVSEIY SFMKEHFPYF KTAPDGWKNS 

       250        260        270        280        290        300 
VRHNLSLNKC FEKVENKMSG SSRKGCLWAL NLARIDKMEE EMHKWKRKDL AAIHRSMANP 

       310        320        330        340        350        360 
EELDKLISDR PESCRRPGKP GEPEAPVLTH ATTVAVAHGC LAVSQLPPQP LMTLSLQSVP 

       370        380        390        400        410        420 
LHHQVQPQAH LAPDSPAPAQ TPPLHALPDL SPSPLPHPAM GRAPVDFINI STDMNTEVDA 

       430        440        450        460        470        480 
LDPSIMDFAL QGNLWEEMKD EGFSLDTLGA FADSPLGCDL GASGLTPASG GSDQSFPDLQ 

       490        500        510 
VTGLYTAYST PDSVAASGTS SSSQYLGAQG NKPIALL 

« Hide

Isoform 2 [UniParc].

Checksum: F1814B58222A4813
Show »

FASTA25827,246
Isoform 3 [UniParc].

Checksum: 607EE81653B89992
Show »

FASTA33736,025

References

« Hide 'large scale' references
[1]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Expression of the winged helix/forkhead gene, foxn4, during zebrafish development."
Danilova N., Visel A., Willett C.E., Steiner L.A.
Brain Res. Dev. Brain Res. 153:115-119(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 41-517 (ISOFORMS 1 AND 2).
[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. expand/collapse author list , 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] (ISOFORM 3).
Tissue: Brain.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC012384 Genomic DNA. No translation available.
AF425596 mRNA. Translation: AAL23949.1.
AF425597 mRNA. Translation: AAL23950.1.
AK131519 mRNA. Translation: BAD18661.1.
CCDSCCDS9126.2. [Q96NZ1-1]
RefSeqNP_998761.2. NM_213596.2. [Q96NZ1-1]
UniGeneHs.528316.

3D structure databases

ProteinModelPortalQ96NZ1.
SMRQ96NZ1. Positions 198-271.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000299162.

PTM databases

PhosphoSiteQ96NZ1.

Polymorphism databases

DMDM71153520.

Proteomic databases

PaxDbQ96NZ1.
PRIDEQ96NZ1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299162; ENSP00000299162; ENSG00000139445. [Q96NZ1-1]
ENST00000355216; ENSP00000347354; ENSG00000139445.
ENST00000423960; ENSP00000408085; ENSG00000139445.
GeneID121643.
KEGGhsa:121643.
UCSCuc001toe.4. human. [Q96NZ1-1]

Organism-specific databases

CTD121643.
GeneCardsGC12M109715.
HGNCHGNC:21399. FOXN4.
HPAHPA050018.
MIM609429. gene.
neXtProtNX_Q96NZ1.
PharmGKBPA134982965.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000232153.
HOVERGENHBG051655.
InParanoidQ96NZ1.
KOK09407.
OMAPSPQEYR.
OrthoDBEOG77T146.
PhylomeDBQ96NZ1.
TreeFamTF329867.

Gene expression databases

BgeeQ96NZ1.
CleanExHS_FOXN4.
GenevestigatorQ96NZ1.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi121643.
NextBio80794.
PROQ96NZ1.
SOURCESearch...

Entry information

Entry nameFOXN4_HUMAN
AccessionPrimary (citable) accession number: Q96NZ1
Secondary accession number(s): Q6ZMR4, Q96NZ0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: July 19, 2005
Last modified: July 9, 2014
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM