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Q96NZ1

- FOXN4_HUMAN

UniProt

Q96NZ1 - FOXN4_HUMAN

Protein

Forkhead box protein N4

Gene

FOXN4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    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

    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

    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.
    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

    MIESDTSSIM SGIIRNSGQN HHPSPQEYRL LATTSDDDLP GDLQSLSWLT    50
    AVDVPRLQQM ASGRVDLGGP CVPHPHPGAL AGVADLHVGA TPSPLLHGPA 100
    GMAPRGMPGL GPITGHRDSM SQFPVGGQPS SGLQDPPHLY SPATQPQFPL 150
    PPGAQQCPPV GLYGPPFGVR PPYPQPHVAV HSSQELHPKH YPKPIYSYSC 200
    LIAMALKNSK TGSLPVSEIY SFMKEHFPYF KTAPDGWKNS VRHNLSLNKC 250
    FEKVENKMSG SSRKGCLWAL NLARIDKMEE EMHKWKRKDL AAIHRSMANP 300
    EELDKLISDR PESCRRPGKP GEPEAPVLTH ATTVAVAHGC LAVSQLPPQP 350
    LMTLSLQSVP LHHQVQPQAH LAPDSPAPAQ TPPLHALPDL SPSPLPHPAM 400
    GRAPVDFINI STDMNTEVDA LDPSIMDFAL QGNLWEEMKD EGFSLDTLGA 450
    FADSPLGCDL GASGLTPASG GSDQSFPDLQ VTGLYTAYST PDSVAASGTS 500
    SSSQYLGAQG NKPIALL 517
    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.
    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

    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 1, 2014
    This is version 106 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