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Q14938

- NFIX_HUMAN

UniProt

Q14938 - NFIX_HUMAN

Protein

Nuclear factor 1 X-type

Gene

NFIX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi1 – 194194CTF/NF-IPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: ProtInc
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. astrocyte differentiation Source: Ensembl
    2. cerebellar granule cell differentiation Source: Ensembl
    3. cerebellar Purkinje cell layer development Source: Ensembl
    4. DNA replication Source: UniProtKB-KW
    5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    6. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    7. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    DNA replication, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
    REACT_63. RNA Polymerase III Transcription Termination.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear factor 1 X-type
    Short name:
    NF1-X
    Short name:
    Nuclear factor 1/X
    Alternative name(s):
    CCAAT-box-binding transcription factor
    Short name:
    CTF
    Nuclear factor I/X
    Short name:
    NF-I/X
    Short name:
    NFI-X
    TGGCA-binding protein
    Gene namesi
    Name:NFIX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:7788. NFIX.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Sotos syndrome 2 (SOTOS2) [MIM:614753]: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 601L → P in SOTOS2. 1 Publication
    VAR_068720
    Natural varianti121 – 1211R → P in SOTOS2. 1 Publication
    VAR_068721
    Marshall-Smith syndrome (MRSHSS) [MIM:602535]: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi602535. phenotype.
    614753. phenotype.
    Orphaneti561. Marshall-Smith syndrome.
    821. Sotos syndrome.
    PharmGKBiPA31594.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 502502Nuclear factor 1 X-typePRO_0000100203Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei280 – 2801Phosphoserine1 Publication
    Modified residuei288 – 2881PhosphoserineBy similarity
    Modified residuei301 – 3011PhosphoserineBy similarity
    Modified residuei341 – 3411PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ14938.
    PaxDbiQ14938.
    PRIDEiQ14938.

    PTM databases

    PhosphoSiteiQ14938.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Developmental stagei

    Prominent expression is observed in the central and peripheral nervous system in the embryo at Carnagie stage 17 (CS17; gestational day 42); at this stage it is also observed in the mandibular arch, cartilage primordium of the humerus, scapula, and vertebrae; in the limb expression is detected in the perichondrium. Expressed in the cerebral cortex, hippocampus, and faintly in the thalamus in fetal brain at 22 weeks of gestation,.1 Publication

    Gene expression databases

    ArrayExpressiQ14938.
    BgeeiQ14938.
    CleanExiHS_NFIX.
    GenevestigatoriQ14938.

    Organism-specific databases

    HPAiHPA007533.

    Interactioni

    Subunit structurei

    Binds DNA as a homodimer.

    Protein-protein interaction databases

    BioGridi110856. 11 interactions.
    IntActiQ14938. 1 interaction.
    MINTiMINT-4533016.
    STRINGi9606.ENSP00000353219.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14938.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CTF/NF-I family.PROSITE-ProRule annotation
    Contains 1 CTF/NF-I DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG252172.
    HOVERGENiHBG006561.
    InParanoidiQ14938.
    KOiK09171.
    OMAiGQHSQRQ.
    OrthoDBiEOG7WDN2K.
    PhylomeDBiQ14938.
    TreeFamiTF313889.

    Family and domain databases

    InterProiIPR000647. CTF/NFI.
    IPR020604. CTF/NFI_DNA-bd-dom.
    IPR019739. CTF/NFI_DNA-bd_CS.
    IPR019548. CTF/NFI_DNA-bd_N.
    IPR003619. MAD_homology1_Dwarfin-type.
    [Graphical view]
    PANTHERiPTHR11492. PTHR11492. 1 hit.
    PfamiPF00859. CTF_NFI. 1 hit.
    PF03165. MH1. 1 hit.
    PF10524. NfI_DNAbd_pre-N. 1 hit.
    [Graphical view]
    SMARTiSM00523. DWA. 1 hit.
    [Graphical view]
    PROSITEiPS00349. CTF_NFI_1. 1 hit.
    PS51080. CTF_NFI_2. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14938-1) [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

    MYSPYCLTQD EFHPFIEALL PHVRAFSYTW FNLQARKRKY FKKHEKRMSK    50
    DEERAVKDEL LGEKPEIKQK WASRLLAKLR KDIRPEFRED FVLTITGKKP 100
    PCCVLSNPDQ KGKIRRIDCL RQADKVWRLD LVMVILFKGI PLESTDGERL 150
    YKSPQCSNPG LCVQPHHIGV TIKELDLYLA YFVHTPESGQ SDSSNQQGDA 200
    DIKPLPNGHL SFQDCFVTSG VWNVTELVRV SQTPVATASG PNFSLADLES 250
    PSYYNINQVT LGRRSITSPP STSTTKRPKS IDDSEMESPV DDVFYPGTGR 300
    SPAAGSSQSS GWPNDVDAGP ASLKKSGKLD FCSALSSQGS SPRMAFTHHP 350
    LPVLAGVRPG SPRATASALH FPSTSIIQQS SPYFTHPTIR YHHHHGQDSL 400
    KEFVQFVCSD GSGQATGQPN GSGQGKVPGS FLLPPPPPVA RPVPLPMPDS 450
    KSTSTAPDGA ALTPPSPSFA TTGASSANRF VSIGPRDGNF LNIPQQSQSW 500
    FL 502
    Length:502
    Mass (Da):55,098
    Last modified:June 1, 2001 - v2
    Checksum:i55B40A7DC505EA21
    GO
    Isoform 2 (identifier: Q14938-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         318-359: Missing.

    Show »
    Length:460
    Mass (Da):50,811
    Checksum:i057954AC4937AFBE
    GO
    Isoform 3 (identifier: Q14938-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
         442-502: Missing.

    Show »
    Length:441
    Mass (Da):48,867
    Checksum:i38CB7326FDC82859
    GO
    Isoform 4 (identifier: Q14938-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MYSPYCLTQ → M

    Show »
    Length:494
    Mass (Da):54,142
    Checksum:i8924298844FFA791
    GO
    Isoform 5 (identifier: Q14938-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: MYSPYCLT → MLPACRL
         419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
         442-502: Missing.

    Show »
    Length:440
    Mass (Da):48,693
    Checksum:i1B415FEA50613C96
    GO
    Isoform 6 (identifier: Q14938-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MYSPYCLTQ → M
         419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
         442-502: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:433
    Mass (Da):47,911
    Checksum:i7E70888E782E68B5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti91 – 911F → Y in AAA53422. (PubMed:7937100)Curated
    Sequence conflicti399 – 3991S → P in BAG59737. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 601L → P in SOTOS2. 1 Publication
    VAR_068720
    Natural varianti121 – 1211R → P in SOTOS2. 1 Publication
    VAR_068721

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 99MYSPYCLTQ → M in isoform 4 and isoform 6. 2 PublicationsVSP_003558
    Alternative sequencei1 – 88MYSPYCLT → MLPACRL in isoform 5. 2 PublicationsVSP_003559
    Alternative sequencei318 – 35942Missing in isoform 2. 1 PublicationVSP_003560Add
    BLAST
    Alternative sequencei419 – 44123PNGSG…PPVAR → HSQRQAPPLPTGLSASDPGT ATF in isoform 3, isoform 5 and isoform 6. 4 PublicationsVSP_003561Add
    BLAST
    Alternative sequencei442 – 50261Missing in isoform 3, isoform 5 and isoform 6. 4 PublicationsVSP_003562Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L31881 mRNA. Translation: AAA53422.1.
    U18759 mRNA. Translation: AAB52369.1.
    U18761 mRNA. Translation: AAB52371.1.
    AK297261 mRNA. Translation: BAG59737.1.
    BT019732 mRNA. Translation: AAV38537.1.
    AC004660 Genomic DNA. Translation: AAC15752.1.
    AC007787 Genomic DNA. Translation: AAD38240.1.
    AC007787 Genomic DNA. Translation: AAD38241.1.
    CH471106 Genomic DNA. Translation: EAW84340.1.
    BC117113 mRNA. Translation: AAI17114.1.
    BC117115 mRNA. Translation: AAI17116.1.
    U07811 mRNA. Translation: AAA93126.1.
    CCDSiCCDS45996.1. [Q14938-3]
    CCDS59359.1. [Q14938-6]
    PIRiS50112.
    RefSeqiNP_001257973.1. NM_001271044.2.
    NP_002492.2. NM_002501.3. [Q14938-3]
    XP_005259975.1. XM_005259918.2. [Q14938-1]
    UniGeneiHs.257970.

    Genome annotation databases

    EnsembliENST00000397661; ENSP00000380781; ENSG00000008441. [Q14938-3]
    ENST00000585575; ENSP00000468794; ENSG00000008441. [Q14938-4]
    ENST00000587260; ENSP00000467785; ENSG00000008441. [Q14938-5]
    ENST00000587760; ENSP00000466389; ENSG00000008441. [Q14938-6]
    ENST00000592199; ENSP00000467512; ENSG00000008441. [Q14938-1]
    GeneIDi4784.
    KEGGihsa:4784.
    UCSCiuc002mwd.3. human. [Q14938-3]
    uc002mwe.4. human. [Q14938-5]

    Polymorphism databases

    DMDMi14195678.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L31881 mRNA. Translation: AAA53422.1 .
    U18759 mRNA. Translation: AAB52369.1 .
    U18761 mRNA. Translation: AAB52371.1 .
    AK297261 mRNA. Translation: BAG59737.1 .
    BT019732 mRNA. Translation: AAV38537.1 .
    AC004660 Genomic DNA. Translation: AAC15752.1 .
    AC007787 Genomic DNA. Translation: AAD38240.1 .
    AC007787 Genomic DNA. Translation: AAD38241.1 .
    CH471106 Genomic DNA. Translation: EAW84340.1 .
    BC117113 mRNA. Translation: AAI17114.1 .
    BC117115 mRNA. Translation: AAI17116.1 .
    U07811 mRNA. Translation: AAA93126.1 .
    CCDSi CCDS45996.1. [Q14938-3 ]
    CCDS59359.1. [Q14938-6 ]
    PIRi S50112.
    RefSeqi NP_001257973.1. NM_001271044.2.
    NP_002492.2. NM_002501.3. [Q14938-3 ]
    XP_005259975.1. XM_005259918.2. [Q14938-1 ]
    UniGenei Hs.257970.

    3D structure databases

    ProteinModelPortali Q14938.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110856. 11 interactions.
    IntActi Q14938. 1 interaction.
    MINTi MINT-4533016.
    STRINGi 9606.ENSP00000353219.

    PTM databases

    PhosphoSitei Q14938.

    Polymorphism databases

    DMDMi 14195678.

    Proteomic databases

    MaxQBi Q14938.
    PaxDbi Q14938.
    PRIDEi Q14938.

    Protocols and materials databases

    DNASUi 4784.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000397661 ; ENSP00000380781 ; ENSG00000008441 . [Q14938-3 ]
    ENST00000585575 ; ENSP00000468794 ; ENSG00000008441 . [Q14938-4 ]
    ENST00000587260 ; ENSP00000467785 ; ENSG00000008441 . [Q14938-5 ]
    ENST00000587760 ; ENSP00000466389 ; ENSG00000008441 . [Q14938-6 ]
    ENST00000592199 ; ENSP00000467512 ; ENSG00000008441 . [Q14938-1 ]
    GeneIDi 4784.
    KEGGi hsa:4784.
    UCSCi uc002mwd.3. human. [Q14938-3 ]
    uc002mwe.4. human. [Q14938-5 ]

    Organism-specific databases

    CTDi 4784.
    GeneCardsi GC19P013106.
    HGNCi HGNC:7788. NFIX.
    HPAi HPA007533.
    MIMi 164005. gene.
    602535. phenotype.
    614753. phenotype.
    neXtProti NX_Q14938.
    Orphaneti 561. Marshall-Smith syndrome.
    821. Sotos syndrome.
    PharmGKBi PA31594.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG252172.
    HOVERGENi HBG006561.
    InParanoidi Q14938.
    KOi K09171.
    OMAi GQHSQRQ.
    OrthoDBi EOG7WDN2K.
    PhylomeDBi Q14938.
    TreeFami TF313889.

    Enzyme and pathway databases

    Reactomei REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
    REACT_63. RNA Polymerase III Transcription Termination.

    Miscellaneous databases

    ChiTaRSi NFIX. human.
    GeneWikii NFIX.
    GenomeRNAii 4784.
    NextBioi 18450.
    PROi Q14938.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14938.
    Bgeei Q14938.
    CleanExi HS_NFIX.
    Genevestigatori Q14938.

    Family and domain databases

    InterProi IPR000647. CTF/NFI.
    IPR020604. CTF/NFI_DNA-bd-dom.
    IPR019739. CTF/NFI_DNA-bd_CS.
    IPR019548. CTF/NFI_DNA-bd_N.
    IPR003619. MAD_homology1_Dwarfin-type.
    [Graphical view ]
    PANTHERi PTHR11492. PTHR11492. 1 hit.
    Pfami PF00859. CTF_NFI. 1 hit.
    PF03165. MH1. 1 hit.
    PF10524. NfI_DNAbd_pre-N. 1 hit.
    [Graphical view ]
    SMARTi SM00523. DWA. 1 hit.
    [Graphical view ]
    PROSITEi PS00349. CTF_NFI_1. 1 hit.
    PS51080. CTF_NFI_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional analysis of spliced isoforms of human nuclear factor I-X: interference with transcriptional activation by NFI/CTF in a cell-type specific manner."
      Apt D., Liu Y., Bernard H.U.
      Nucleic Acids Res. 22:3825-3833(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Foreskin.
    2. "Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes."
      Sumner C., Shinohara T., Durham L., Traub R., Major E.O., Amemiya K.
      J. Neurovirol. 2:87-100(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
      Tissue: Brain.
    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 6).
      Tissue: Brain.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 5).
      Tissue: Brain.
    8. "Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH."
      Qian F., Kruse U., Lichter P., Sippel A.E.
      Genomics 28:66-73(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-228.
    9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome."
      Malan V., Rajan D., Thomas S., Shaw A.C., Louis Dit Picard H., Layet V., Till M., van Haeringen A., Mortier G., Nampoothiri S., Puseljic S., Legeai-Mallet L., Carter N.P., Vekemans M., Munnich A., Hennekam R.C., Colleaux L., Cormier-Daire V.
      Am. J. Hum. Genet. 87:189-198(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SOTOS2 AND MRSHSS, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    11. Cited for: VARIANTS SOTOS2 PRO-60 AND PRO-121.

    Entry informationi

    Entry nameiNFIX_HUMAN
    AccessioniPrimary (citable) accession number: Q14938
    Secondary accession number(s): B4DM25
    , O60413, Q0VG09, Q12859, Q13050, Q13052, Q5U094, Q9UPH1, Q9Y6R8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 136 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 19
      Human chromosome 19: 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