Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q15583

- TGIF1_HUMAN

UniProt

Q15583 - TGIF1_HUMAN

Protein

Homeobox protein TGIF1

Gene

TGIF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 158 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi164 – 22663Homeobox; TALE-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: IntAct
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
    5. sequence-specific DNA binding transcription factor activity Source: ProtInc
    6. transcription corepressor activity Source: ProtInc

    GO - Biological processi

    1. determination of left/right symmetry Source: Ensembl
    2. dorsal/ventral pattern formation Source: Ensembl
    3. gene expression Source: Reactome
    4. multicellular organismal development Source: ProtInc
    5. negative regulation of cell proliferation Source: Ensembl
    6. negative regulation of retinoic acid receptor signaling pathway Source: Ensembl
    7. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
    8. neural tube closure Source: Ensembl
    9. nodal signaling pathway Source: Ensembl
    10. positive regulation of fibroblast proliferation Source: Ensembl
    11. positive regulation of neuron differentiation Source: Ensembl
    12. regulation of gastrulation Source: Ensembl
    13. response to drug Source: Ensembl
    14. retina development in camera-type eye Source: Ensembl
    15. transcription, DNA-templated Source: Reactome
    16. transcription initiation from RNA polymerase II promoter Source: Reactome
    17. transforming growth factor beta receptor signaling pathway Source: Reactome

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_120734. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.
    REACT_121111. Downregulation of SMAD2/3:SMAD4 transcriptional activity.
    SignaLinkiQ15583.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein TGIF1
    Alternative name(s):
    5'-TG-3'-interacting factor 1
    Gene namesi
    Name:TGIF1
    Synonyms:TGIF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:11776. TGIF1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Holoprosencephaly 4 (HPE4) [MIM:142946]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571S → C in HPE4. 1 Publication
    VAR_009961
    Natural varianti192 – 1921P → R in HPE4. 1 Publication
    VAR_009962
    Natural varianti236 – 2361Q → L in HPE4. 1 Publication
    VAR_023803
    Natural varianti280 – 2801T → A in HPE4. 1 Publication
    VAR_009963
    Natural varianti291 – 2911S → F in HPE4. 1 Publication
    VAR_009964

    Keywords - Diseasei

    Disease mutation, Holoprosencephaly

    Organism-specific databases

    MIMi142946. phenotype.
    Orphaneti93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBiPA36489.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 401401Homeobox protein TGIF1PRO_0000049318Add
    BLAST

    Proteomic databases

    MaxQBiQ15583.
    PaxDbiQ15583.
    PRIDEiQ15583.

    PTM databases

    PhosphoSiteiQ15583.

    Expressioni

    Gene expression databases

    ArrayExpressiQ15583.
    BgeeiQ15583.
    CleanExiHS_TGIF1.
    GenevestigatoriQ15583.

    Organism-specific databases

    HPAiCAB004596.

    Interactioni

    Subunit structurei

    Interacts with CTBP, SMAD2, SMAD3 and HDAC1.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    LGALS8O0021410EBI-714215,EBI-740058
    PMLP295903EBI-714215,EBI-295890

    Protein-protein interaction databases

    BioGridi112908. 21 interactions.
    IntActiQ15583. 8 interactions.
    MINTiMINT-145985.
    STRINGi9606.ENSP00000327959.

    Structurei

    Secondary structure

    1
    401
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi173 – 18513
    Helixi188 – 1903
    Helixi194 – 20310
    Beta strandi204 – 2063
    Helixi208 – 23023

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2LK2NMR-A171-248[»]
    ProteinModelPortaliQ15583.
    SMRiQ15583. Positions 171-248.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ15583.

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi153 – 1575CTBP-binding motif

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi165 – 1684Poly-Arg

    Sequence similaritiesi

    Belongs to the TALE/TGIF homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG308174.
    HOGENOMiHOG000232039.
    HOVERGENiHBG001143.
    InParanoidiQ15583.
    OMAiTMDVPLD.
    PhylomeDBiQ15583.
    TreeFamiTF318093.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR001356. Homeobox_dom.
    IPR008422. Homeobox_KN_domain.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF05920. Homeobox_KN. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q15583-1) [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

    MVLAQSRVSA GVGSPHCSGS GGGGSDSFPW PASHPGNPQC SFSTAFLASP    50
    RLSRGTLAYL PPAPWSSLAT PSALLGSSCA PPPPPARCPQ PRALSPELGT 100
    KAGPRRPHRW ELPRSPSQGA QGPAPRRRLL ETMKGIVAAS GSETEDEDSM 150
    DIPLDLSSSA GSGKRRRRGN LPKESVQILR DWLYEHRYNA YPSEQEKALL 200
    SQQTHLSTLQ VCNWFINARR RLLPDMLRKD GKDPNQFTIS RRGAKISETS 250
    SVESVMGIKN FMPALEETPF HSCTAGPNPT LGRPLSPKPS SPGSVLARPS 300
    VICHTTVTAL KDVPFSLCQS VGVGQNTDIQ QIAAKNFTDT SLMYPEDTCK 350
    SGPSTNTQSG LFNTPPPTPP DLNQDFSGFQ LLVDVALKRA AEMELQAKLT 400
    A 401
    Length:401
    Mass (Da):43,013
    Last modified:November 25, 2008 - v3
    Checksum:i4D9C76AFB37A29F0
    GO
    Isoform 2 (identifier: Q15583-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-129: Missing.
         130-133: LETM → MKGK

    Show »
    Length:272
    Mass (Da):29,737
    Checksum:i948D1F689996E84E
    GO
    Isoform 3 (identifier: Q15583-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-115: Missing.
         116-134: PSQGAQGPAPRRRLLETMK → MTCSGKSCALARSSLTSSQ

    Show »
    Length:286
    Mass (Da):31,064
    Checksum:i39EA173EECBFD391
    GO
    Isoform 4 (identifier: Q15583-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-149: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:252
    Mass (Da):27,715
    Checksum:iA3426BEBB9753C87
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti96 – 961P → Q in AAH31268. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571S → C in HPE4. 1 Publication
    VAR_009961
    Natural varianti192 – 1921P → R in HPE4. 1 Publication
    VAR_009962
    Natural varianti236 – 2361Q → L in HPE4. 1 Publication
    VAR_023803
    Natural varianti280 – 2801T → A in HPE4. 1 Publication
    VAR_009963
    Natural varianti289 – 2891P → S.
    Corresponds to variant rs11571512 [ dbSNP | Ensembl ].
    VAR_047363
    Natural varianti291 – 2911S → F in HPE4. 1 Publication
    VAR_009964
    Natural varianti292 – 2921P → L.
    Corresponds to variant rs2229333 [ dbSNP | Ensembl ].
    VAR_020151
    Natural varianti292 – 2921P → S.2 Publications
    Corresponds to variant rs4468717 [ dbSNP | Ensembl ].
    VAR_061268

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 149149Missing in isoform 4. 1 PublicationVSP_046848Add
    BLAST
    Alternative sequencei1 – 129129Missing in isoform 2. 4 PublicationsVSP_013020Add
    BLAST
    Alternative sequencei1 – 115115Missing in isoform 3. 1 PublicationVSP_043108Add
    BLAST
    Alternative sequencei116 – 13419PSQGA…LETMK → MTCSGKSCALARSSLTSSQ in isoform 3. 1 PublicationVSP_043109Add
    BLAST
    Alternative sequencei130 – 1334LETM → MKGK in isoform 2. 4 PublicationsVSP_013021

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X89750 mRNA. Translation: CAA61897.1.
    AF179900 mRNA. Translation: AAF81643.1.
    CR450333 mRNA. Translation: CAG29329.1.
    AK291112 mRNA. Translation: BAF83801.1.
    AP001025 Genomic DNA. No translation available.
    CH471113 Genomic DNA. Translation: EAX01672.1.
    BC000814 mRNA. Translation: AAH00814.1.
    BC031268 mRNA. Translation: AAH31268.1.
    BE296707 mRNA. No translation available.
    CCDSiCCDS11832.1. [Q15583-3]
    CCDS11833.1. [Q15583-2]
    CCDS11834.1. [Q15583-1]
    CCDS11835.1. [Q15583-4]
    RefSeqiNP_001265611.1. NM_001278682.1.
    NP_001265613.1. NM_001278684.1. [Q15583-2]
    NP_001265615.1. NM_001278686.1. [Q15583-4]
    NP_003235.1. NM_003244.3. [Q15583-2]
    NP_733796.2. NM_170695.3. [Q15583-1]
    NP_775299.1. NM_173207.2. [Q15583-3]
    NP_775300.1. NM_173208.2. [Q15583-2]
    NP_775301.1. NM_173209.2. [Q15583-4]
    NP_775302.1. NM_173210.2. [Q15583-4]
    NP_775303.1. NM_173211.1. [Q15583-4]
    NP_777480.1. NM_174886.2. [Q15583-4]
    XP_005258192.1. XM_005258135.1. [Q15583-4]
    UniGeneiHs.373550.

    Genome annotation databases

    EnsembliENST00000330513; ENSP00000327959; ENSG00000177426. [Q15583-1]
    ENST00000343820; ENSP00000339631; ENSG00000177426. [Q15583-2]
    ENST00000345133; ENSP00000343969; ENSG00000177426. [Q15583-4]
    ENST00000400167; ENSP00000383031; ENSG00000177426. [Q15583-4]
    ENST00000401449; ENSP00000385206; ENSG00000177426. [Q15583-4]
    ENST00000405385; ENSP00000384970; ENSG00000177426. [Q15583-4]
    ENST00000407501; ENSP00000384133; ENSG00000177426. [Q15583-2]
    ENST00000472042; ENSP00000449501; ENSG00000177426. [Q15583-4]
    ENST00000548489; ENSP00000447747; ENSG00000177426. [Q15583-3]
    ENST00000551541; ENSP00000450025; ENSG00000177426. [Q15583-4]
    GeneIDi7050.
    KEGGihsa:7050.
    UCSCiuc002klu.3. human. [Q15583-1]
    uc002klv.3. human. [Q15583-3]
    uc002klw.3. human. [Q15583-2]

    Polymorphism databases

    DMDMi215274200.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X89750 mRNA. Translation: CAA61897.1 .
    AF179900 mRNA. Translation: AAF81643.1 .
    CR450333 mRNA. Translation: CAG29329.1 .
    AK291112 mRNA. Translation: BAF83801.1 .
    AP001025 Genomic DNA. No translation available.
    CH471113 Genomic DNA. Translation: EAX01672.1 .
    BC000814 mRNA. Translation: AAH00814.1 .
    BC031268 mRNA. Translation: AAH31268.1 .
    BE296707 mRNA. No translation available.
    CCDSi CCDS11832.1. [Q15583-3 ]
    CCDS11833.1. [Q15583-2 ]
    CCDS11834.1. [Q15583-1 ]
    CCDS11835.1. [Q15583-4 ]
    RefSeqi NP_001265611.1. NM_001278682.1.
    NP_001265613.1. NM_001278684.1. [Q15583-2 ]
    NP_001265615.1. NM_001278686.1. [Q15583-4 ]
    NP_003235.1. NM_003244.3. [Q15583-2 ]
    NP_733796.2. NM_170695.3. [Q15583-1 ]
    NP_775299.1. NM_173207.2. [Q15583-3 ]
    NP_775300.1. NM_173208.2. [Q15583-2 ]
    NP_775301.1. NM_173209.2. [Q15583-4 ]
    NP_775302.1. NM_173210.2. [Q15583-4 ]
    NP_775303.1. NM_173211.1. [Q15583-4 ]
    NP_777480.1. NM_174886.2. [Q15583-4 ]
    XP_005258192.1. XM_005258135.1. [Q15583-4 ]
    UniGenei Hs.373550.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LK2 NMR - A 171-248 [» ]
    ProteinModelPortali Q15583.
    SMRi Q15583. Positions 171-248.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112908. 21 interactions.
    IntActi Q15583. 8 interactions.
    MINTi MINT-145985.
    STRINGi 9606.ENSP00000327959.

    PTM databases

    PhosphoSitei Q15583.

    Polymorphism databases

    DMDMi 215274200.

    Proteomic databases

    MaxQBi Q15583.
    PaxDbi Q15583.
    PRIDEi Q15583.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330513 ; ENSP00000327959 ; ENSG00000177426 . [Q15583-1 ]
    ENST00000343820 ; ENSP00000339631 ; ENSG00000177426 . [Q15583-2 ]
    ENST00000345133 ; ENSP00000343969 ; ENSG00000177426 . [Q15583-4 ]
    ENST00000400167 ; ENSP00000383031 ; ENSG00000177426 . [Q15583-4 ]
    ENST00000401449 ; ENSP00000385206 ; ENSG00000177426 . [Q15583-4 ]
    ENST00000405385 ; ENSP00000384970 ; ENSG00000177426 . [Q15583-4 ]
    ENST00000407501 ; ENSP00000384133 ; ENSG00000177426 . [Q15583-2 ]
    ENST00000472042 ; ENSP00000449501 ; ENSG00000177426 . [Q15583-4 ]
    ENST00000548489 ; ENSP00000447747 ; ENSG00000177426 . [Q15583-3 ]
    ENST00000551541 ; ENSP00000450025 ; ENSG00000177426 . [Q15583-4 ]
    GeneIDi 7050.
    KEGGi hsa:7050.
    UCSCi uc002klu.3. human. [Q15583-1 ]
    uc002klv.3. human. [Q15583-3 ]
    uc002klw.3. human. [Q15583-2 ]

    Organism-specific databases

    CTDi 7050.
    GeneCardsi GC18P003412.
    GeneReviewsi TGIF1.
    H-InvDB HIX0174209.
    HGNCi HGNC:11776. TGIF1.
    HPAi CAB004596.
    MIMi 142946. phenotype.
    602630. gene.
    neXtProti NX_Q15583.
    Orphaneti 93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBi PA36489.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308174.
    HOGENOMi HOG000232039.
    HOVERGENi HBG001143.
    InParanoidi Q15583.
    OMAi TMDVPLD.
    PhylomeDBi Q15583.
    TreeFami TF318093.

    Enzyme and pathway databases

    Reactomei REACT_120734. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.
    REACT_121111. Downregulation of SMAD2/3:SMAD4 transcriptional activity.
    SignaLinki Q15583.

    Miscellaneous databases

    EvolutionaryTracei Q15583.
    GeneWikii Homeobox_protein_TGIF1.
    GenomeRNAii 7050.
    NextBioi 27551.
    PROi Q15583.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15583.
    Bgeei Q15583.
    CleanExi HS_TGIF1.
    Genevestigatori Q15583.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR001356. Homeobox_dom.
    IPR008422. Homeobox_KN_domain.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF05920. Homeobox_KN. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif."
      Bertolino E., Reimund B., Wildt-Perinic D., Clerc R.G.
      J. Biol. Chem. 270:31178-31188(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Liver.
    2. "Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription."
      Yang Y., Hwang C.K., D'Souza U.M., Lee S.-H., Junn E., Mouradian M.M.
      J. Biol. Chem. 275:20734-20741(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT SER-292.
      Tissue: Brain.
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-292.
    4. "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).
    5. 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] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-137 (ISOFORM 4).
      Tissue: Brain, Placenta and Rhabdomyosarcoma.
    8. "Solution NMR structure of homeobox domain (171-248) of human homeobox protein TGIF1, northeast structural genomics consortium target hr4411b."
      Northeast structural genomics consortium (NESG)
      Submitted (OCT-2011) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 171-248.
    9. "Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination."
      Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massague J., Muenke M., Elledge S.J.
      Nat. Genet. 25:205-208(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HPE4 CYS-157; ARG-192; ALA-280 AND PHE-291.
    10. "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations."
      Dubourg C., Lazaro L., Pasquier L., Bendavid C., Blayau M., Le Duff F., Durou M.-R., Odent S., David V.
      Hum. Mutat. 24:43-51(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HPE4 LEU-236.

    Entry informationi

    Entry nameiTGIF1_HUMAN
    AccessioniPrimary (citable) accession number: Q15583
    Secondary accession number(s): A6NE42
    , A6NLU7, F8VZB6, Q6ICR0, Q8N5X9, Q9NRS0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 158 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3