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Q96NZ1

- FOXN4_HUMAN

UniProt

Q96NZ1 - FOXN4_HUMAN

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Protein

Forkhead box protein N4

Gene

FOXN4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

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.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi193 – 28997Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: UniProtKB
  2. enhancer sequence-specific DNA binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. amacrine cell differentiation Source: UniProtKB
  2. atrioventricular canal development Source: UniProtKB
  3. heart looping Source: UniProtKB
  4. positive regulation of transcription, DNA-templated Source: UniProtKB
  5. regulation of heart contraction Source: UniProtKB
  6. regulation of transcription, DNA-templated Source: UniProtKB
  7. retina layer formation Source: UniProtKB
  8. transcription, DNA-templated Source: UniProtKB-KW
  9. ventral spinal cord interneuron fate commitment Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein N4
Gene namesi
Name:FOXN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:21399. FOXN4.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134982965.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 517517Forkhead box protein N4PRO_0000091870Add
BLAST

Proteomic databases

PaxDbiQ96NZ1.
PRIDEiQ96NZ1.

PTM databases

PhosphoSiteiQ96NZ1.

Expressioni

Gene expression databases

BgeeiQ96NZ1.
CleanExiHS_FOXN4.
GenevestigatoriQ96NZ1.

Organism-specific databases

HPAiHPA050018.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000299162.

Structurei

3D structure databases

ProteinModelPortaliQ96NZ1.
SMRiQ96NZ1. Positions 198-271.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi70 – 176107Pro-richAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118794.
HOGENOMiHOG000232153.
HOVERGENiHBG051655.
InParanoidiQ96NZ1.
KOiK09407.
OMAiPSPQEYR.
OrthoDBiEOG77T146.
PhylomeDBiQ96NZ1.
TreeFamiTF329867.

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]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96NZ1-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MIESDTSSIM SGIIRNSGQN HHPSPQEYRL LATTSDDDLP GDLQSLSWLT
60 70 80 90 100
AVDVPRLQQM ASGRVDLGGP CVPHPHPGAL AGVADLHVGA TPSPLLHGPA
110 120 130 140 150
GMAPRGMPGL GPITGHRDSM SQFPVGGQPS SGLQDPPHLY SPATQPQFPL
160 170 180 190 200
PPGAQQCPPV GLYGPPFGVR PPYPQPHVAV HSSQELHPKH YPKPIYSYSC
210 220 230 240 250
LIAMALKNSK TGSLPVSEIY SFMKEHFPYF KTAPDGWKNS VRHNLSLNKC
260 270 280 290 300
FEKVENKMSG SSRKGCLWAL NLARIDKMEE EMHKWKRKDL AAIHRSMANP
310 320 330 340 350
EELDKLISDR PESCRRPGKP GEPEAPVLTH ATTVAVAHGC LAVSQLPPQP
360 370 380 390 400
LMTLSLQSVP LHHQVQPQAH LAPDSPAPAQ TPPLHALPDL SPSPLPHPAM
410 420 430 440 450
GRAPVDFINI STDMNTEVDA LDPSIMDFAL QGNLWEEMKD EGFSLDTLGA
460 470 480 490 500
FADSPLGCDL GASGLTPASG GSDQSFPDLQ VTGLYTAYST PDSVAASGTS
510
SSSQYLGAQG NKPIALL
Length:517
Mass (Da):55,215
Last modified:July 19, 2005 - v2
Checksum:iD4150E6C4F1363EF
GO
Isoform 2 (identifier: Q96NZ1-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:258
Mass (Da):27,246
Checksum:iF1814B58222A4813
GO
Isoform 3 (identifier: Q96NZ1-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:337
Mass (Da):36,025
Checksum:i607EE81653B89992
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371P → L.
Corresponds to variant rs11609341 [ dbSNP | Ensembl ].
VAR_059300

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 198198MIESD…PIYSY → MPGLPCPALPCPAPPPAP in isoform 3. 1 PublicationVSP_054325Add
BLAST
Alternative sequencei119 – 1191S → SQ in isoform 2. 1 PublicationVSP_017227
Alternative sequencei157 – 257101CPPVG…KVENK → LSDRHGPEEQQDRQPACERD LQLHEGALPLLQDGPRRVEE LGAAQPVSEQVLREGGEQDE RLLPQGLPVGSEPGPHRQDG GGDAQVEEEGPGCHPPEYGQ P in isoform 2. 1 PublicationVSP_017228Add
BLAST
Alternative sequencei258 – 517260Missing in isoform 2. 1 PublicationVSP_017229Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC012384 Genomic DNA. No translation available.
AF425596 mRNA. Translation: AAL23949.1.
AF425597 mRNA. Translation: AAL23950.1.
AK131519 mRNA. Translation: BAD18661.1.
CCDSiCCDS9126.2. [Q96NZ1-1]
RefSeqiNP_998761.2. NM_213596.2. [Q96NZ1-1]
UniGeneiHs.528316.

Genome annotation databases

EnsembliENST00000299162; ENSP00000299162; ENSG00000139445. [Q96NZ1-1]
ENST00000355216; ENSP00000347354; ENSG00000139445. [Q96NZ1-3]
ENST00000423960; ENSP00000408085; ENSG00000139445.
GeneIDi121643.
KEGGihsa:121643.
UCSCiuc001toe.4. human. [Q96NZ1-1]

Polymorphism databases

DMDMi71153520.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC012384 Genomic DNA. No translation available.
AF425596 mRNA. Translation: AAL23949.1 .
AF425597 mRNA. Translation: AAL23950.1 .
AK131519 mRNA. Translation: BAD18661.1 .
CCDSi CCDS9126.2. [Q96NZ1-1 ]
RefSeqi NP_998761.2. NM_213596.2. [Q96NZ1-1 ]
UniGenei Hs.528316.

3D structure databases

ProteinModelPortali Q96NZ1.
SMRi Q96NZ1. Positions 198-271.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000299162.

PTM databases

PhosphoSitei Q96NZ1.

Polymorphism databases

DMDMi 71153520.

Proteomic databases

PaxDbi Q96NZ1.
PRIDEi Q96NZ1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299162 ; ENSP00000299162 ; ENSG00000139445 . [Q96NZ1-1 ]
ENST00000355216 ; ENSP00000347354 ; ENSG00000139445 . [Q96NZ1-3 ]
ENST00000423960 ; ENSP00000408085 ; ENSG00000139445 .
GeneIDi 121643.
KEGGi hsa:121643.
UCSCi uc001toe.4. human. [Q96NZ1-1 ]

Organism-specific databases

CTDi 121643.
GeneCardsi GC12M109715.
HGNCi HGNC:21399. FOXN4.
HPAi HPA050018.
MIMi 609429. gene.
neXtProti NX_Q96NZ1.
PharmGKBi PA134982965.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
GeneTreei ENSGT00760000118794.
HOGENOMi HOG000232153.
HOVERGENi HBG051655.
InParanoidi Q96NZ1.
KOi K09407.
OMAi PSPQEYR.
OrthoDBi EOG77T146.
PhylomeDBi Q96NZ1.
TreeFami TF329867.

Miscellaneous databases

GenomeRNAii 121643.
NextBioi 80794.
PROi Q96NZ1.
SOURCEi Search...

Gene expression databases

Bgeei Q96NZ1.
CleanExi HS_FOXN4.
Genevestigatori Q96NZ1.

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. "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.
    , 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.
    , 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.

Entry informationi

Entry nameiFOXN4_HUMAN
AccessioniPrimary (citable) accession number: Q96NZ1
Secondary accession number(s): Q6ZMR4, Q96NZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: July 19, 2005
Last modified: October 29, 2014
This is version 107 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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