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Q15583 - TGIF1_HUMAN

UniProt

Q15583 - TGIF1_HUMAN

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Protein

Homeobox protein TGIF1

Gene

TGIF1

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

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. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
  4. sequence-specific DNA binding transcription factor activity Source: ProtInc
  5. 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
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:11776. TGIF1.

Subcellular locationi

Nucleus

GO - Cellular componenti

  1. nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Holoprosencephaly 42 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:142946
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

BgeeiQ15583.
CleanExiHS_TGIF1.
ExpressionAtlasiQ15583. baseline and differential.
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 – 18513Combined sources
Helixi188 – 1903Combined sources
Helixi194 – 20310Combined sources
Beta strandi204 – 2063Combined sources
Helixi208 – 23023Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00550000074260.
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

        10         20         30         40         50
MVLAQSRVSA GVGSPHCSGS GGGGSDSFPW PASHPGNPQC SFSTAFLASP 
        60         70         80         90        100
RLSRGTLAYL PPAPWSSLAT PSALLGSSCA PPPPPARCPQ PRALSPELGT 
       110        120        130        140        150
KAGPRRPHRW ELPRSPSQGA QGPAPRRRLL ETMKGIVAAS GSETEDEDSM 
       160        170        180        190        200
DIPLDLSSSA GSGKRRRRGN LPKESVQILR DWLYEHRYNA YPSEQEKALL 
       210        220        230        240        250
SQQTHLSTLQ VCNWFINARR RLLPDMLRKD GKDPNQFTIS RRGAKISETS 
       260        270        280        290        300
SVESVMGIKN FMPALEETPF HSCTAGPNPT LGRPLSPKPS SPGSVLARPS 
       310        320        330        340        350
VICHTTVTAL KDVPFSLCQS VGVGQNTDIQ QIAAKNFTDT SLMYPEDTCK 
       360        370        380        390        400
SGPSTNTQSG LFNTPPPTPP DLNQDFSGFQ LLVDVALKRA AEMELQAKLT 

A
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:
EMBLi
GenBanki
DDBJi
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. [Q15583-4]
ENST00000551541; ENSP00000450025; ENSG00000177426. [Q15583-4]
ENST00000618001; ENSP00000483499; ENSG00000177426. [Q15583-3]
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ15583.

Polymorphism databases

DMDMi215274200.

Proteomic databases

MaxQBiQ15583.
PaxDbiQ15583.
PRIDEiQ15583.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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. [Q15583-4]
ENST00000551541; ENSP00000450025; ENSG00000177426. [Q15583-4]
ENST00000618001; ENSP00000483499; ENSG00000177426. [Q15583-3]
GeneIDi7050.
KEGGihsa:7050.
UCSCiuc002klu.3. human. [Q15583-1]
uc002klv.3. human. [Q15583-3]
uc002klw.3. human. [Q15583-2]

Organism-specific databases

CTDi7050.
GeneCardsiGC18P003411.
GeneReviewsiTGIF1.
H-InvDBHIX0174209.
HGNCiHGNC:11776. TGIF1.
HPAiCAB004596.
MIMi142946. phenotype.
602630. gene.
neXtProtiNX_Q15583.
Orphaneti93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA36489.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG308174.
GeneTreeiENSGT00550000074260.
HOGENOMiHOG000232039.
HOVERGENiHBG001143.
InParanoidiQ15583.
OMAiTMDVPLD.
PhylomeDBiQ15583.
TreeFamiTF318093.

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiQ15583.
GeneWikiiHomeobox_protein_TGIF1.
GenomeRNAii7050.
NextBioi27551.
PROiQ15583.
SOURCEiSearch...

Gene expression databases

BgeeiQ15583.
CleanExiHS_TGIF1.
ExpressionAtlasiQ15583. baseline and differential.
GenevestigatoriQ15583.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
+Additional computationally mapped references.

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: February 4, 2015
This is version 162 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.