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Q9UHL9

- GT2D1_HUMAN

UniProt

Q9UHL9 - GT2D1_HUMAN

Protein

General transcription factor II-I repeat domain-containing protein 1

Gene

GTF2IRD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 By similarity.By similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. embryo development Source: Ensembl
    2. regulation of transcription, DNA-templated Source: UniProtKB
    3. regulation of transcription from RNA polymerase II promoter Source: GOC
    4. transcription from RNA polymerase II promoter Source: GOC

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    General transcription factor II-I repeat domain-containing protein 1
    Short name:
    GTF2I repeat domain-containing protein 1
    Alternative name(s):
    General transcription factor III
    MusTRD1/BEN
    Muscle TFII-I repeat domain-containing protein 1
    Slow-muscle-fiber enhancer-binding protein
    USE B1-binding protein
    Williams-Beuren syndrome chromosomal region 11 protein
    Williams-Beuren syndrome chromosomal region 12 protein
    Gene namesi
    Name:GTF2IRD1
    Synonyms:CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:4661. GTF2IRD1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi898 – 95962Missing: Cytoplasmic localization. 1 PublicationAdd
    BLAST

    Keywords - Diseasei

    Williams-Beuren syndrome

    Organism-specific databases

    Orphaneti904. Williams syndrome.
    PharmGKBiPA29047.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 959959General transcription factor II-I repeat domain-containing protein 1PRO_0000083870Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei448 – 4481Phosphoserine3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UHL9.
    PaxDbiQ9UHL9.
    PRIDEiQ9UHL9.

    PTM databases

    PhosphoSiteiQ9UHL9.

    Expressioni

    Tissue specificityi

    Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

    Developmental stagei

    Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.

    Gene expression databases

    ArrayExpressiQ9UHL9.
    BgeeiQ9UHL9.
    CleanExiHS_GTF2IRD1.
    GenevestigatoriQ9UHL9.

    Organism-specific databases

    HPAiHPA044254.

    Interactioni

    Subunit structurei

    Interacts with the retinoblastoma protein (RB1) via its C-terminus.1 Publication

    Protein-protein interaction databases

    BioGridi114939. 9 interactions.
    IntActiQ9UHL9. 2 interactions.
    MINTiMINT-1209004.
    STRINGi9606.ENSP00000265755.

    Structurei

    Secondary structure

    1
    959
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi128 – 14417
    Helixi154 – 1596
    Turni161 – 1633
    Beta strandi164 – 1685
    Turni178 – 1803
    Helixi183 – 19210
    Turni193 – 1953
    Beta strandi197 – 2037
    Helixi565 – 58016
    Helixi591 – 5966
    Turni598 – 6003
    Beta strandi601 – 6055
    Turni615 – 6173
    Helixi620 – 6289
    Turni629 – 6324
    Beta strandi634 – 6385
    Helixi640 – 6423
    Helixi705 – 72117
    Helixi731 – 7366
    Beta strandi738 – 7458
    Helixi755 – 7573
    Helixi760 – 76910
    Turni770 – 7723
    Beta strandi774 – 7774
    Helixi802 – 81716
    Helixi828 – 8336
    Beta strandi837 – 8426
    Beta strandi852 – 8543
    Helixi857 – 8648
    Turni865 – 8695
    Beta strandi871 – 8766

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2D99NMR-A128-203[»]
    2DN5NMR-A802-877[»]
    2DZQNMR-A565-650[»]
    2DZRNMR-A705-790[»]
    ProteinModelPortaliQ9UHL9.
    SMRiQ9UHL9. Positions 128-203, 351-427, 565-656, 702-790, 802-880.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UHL9.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati119 – 21395GTF2I-like 1Add
    BLAST
    Repeati342 – 43695GTF2I-like 2Add
    BLAST
    Repeati556 – 65095GTF2I-like 3Add
    BLAST
    Repeati696 – 79095GTF2I-like 4Add
    BLAST
    Repeati793 – 88795GTF2I-like 5Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi898 – 9058Nuclear localization signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi906 – 93025Ser-richAdd
    BLAST

    Domaini

    The N-terminal half may have an activating activity.

    Sequence similaritiesi

    Belongs to the TFII-I family.PROSITE-ProRule annotation
    Contains 5 GTF2I-like repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG29608.
    HOGENOMiHOG000112829.
    HOVERGENiHBG051855.
    InParanoidiQ9UHL9.
    KOiK03121.
    OMAiKGSRDCG.
    PhylomeDBiQ9UHL9.
    TreeFamiTF352524.

    Family and domain databases

    Gene3Di3.90.1460.10. 5 hits.
    InterProiIPR004212. GTF2I.
    IPR016659. TF_II-I.
    [Graphical view]
    PfamiPF02946. GTF2I. 5 hits.
    [Graphical view]
    PIRSFiPIRSF016441. TF_II-I. 1 hit.
    SUPFAMiSSF117773. SSF117773. 5 hits.
    PROSITEiPS51139. GTF2I. 5 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UHL9-1) [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

    MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA    50
    EVACVAVHDE SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH 100
    PKKVQRGEGG GRSLPRSSLE HGSDVYLLRK MVEEVFDVLY SEALGRASVV 150
    PLPYERLLRE PGLLAVQGLP EGLAFRRPAE YDPKALMAIL EHSHRIRFKL 200
    KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP PQDLPPTATS 250
    SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD 300
    FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT 350
    LRECVQILFN SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR 400
    PCTYGVPKLK RILEERHSIH FIIKRMFDER IFTGNKFTKD TTKLEPASPP 450
    EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC GPGTSGELGG LRPIKIEPED 500
    LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD KGLSEDARPE 550
    ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE 600
    LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP 650
    IMDSQGTASS LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID 700
    IANTLREQVQ DLFNKKYGEA LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI 750
    PFRKPCTFGS QNLERILAVA DKIKFTVTRP FQGLIPKPDE DDANRLGEKV 800
    ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV TGLPDDIPFR 850
    NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR 900
    KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN 950
    VQLPGPLNY 959
    Length:959
    Mass (Da):106,057
    Last modified:May 1, 2000 - v1
    Checksum:i7DA3097879701540
    GO
    Isoform 2 (identifier: Q9UHL9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         656-670: Missing.

    Note: Contains a phosphoserine at position 654.

    Show »
    Length:944
    Mass (Da):104,677
    Checksum:i57E1190182D1D33F
    GO
    Isoform 3 (identifier: Q9UHL9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         89-89: R → LSAAQHRAATSQLEGRVVRRVLTVASRALCPTG
         656-670: Missing.

    Note: Contains a phosphoserine at position 686.

    Show »
    Length:976
    Mass (Da):107,979
    Checksum:i674D8406B5D6A618
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti111 – 1111G → S in AAD14687. (PubMed:9774679)Curated
    Sequence conflicti111 – 1111G → S in AAD27668. (PubMed:10198167)Curated
    Sequence conflicti378 – 3781R → Q in AAF21796. (PubMed:10642537)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti652 – 6521M → V.3 Publications
    Corresponds to variant rs2301895 [ dbSNP | Ensembl ].
    VAR_013446

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei89 – 891R → LSAAQHRAATSQLEGRVVRR VLTVASRALCPTG in isoform 3. 1 PublicationVSP_043425
    Alternative sequencei656 – 67015Missing in isoform 2 and isoform 3. 4 PublicationsVSP_003873Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF118270 mRNA. Translation: AAD14687.2.
    AF104923 mRNA. Translation: AAD27668.1.
    AF151354 mRNA. Translation: AAF19786.1.
    AF156489 mRNA. Translation: AAF17358.1.
    AF089107 mRNA. Translation: AAF21796.1.
    AY648295 mRNA. Translation: AAT68469.1.
    AC004851 Genomic DNA. Translation: AAS00362.1.
    AC005015 Genomic DNA. No translation available.
    AC005231 Genomic DNA. Translation: AAP21877.1.
    BC018136 mRNA. Translation: AAH18136.1.
    CCDSiCCDS47613.1. [Q9UHL9-2]
    CCDS5571.1. [Q9UHL9-1]
    CCDS56492.1. [Q9UHL9-3]
    RefSeqiNP_001186136.1. NM_001199207.1. [Q9UHL9-3]
    NP_005676.3. NM_005685.3. [Q9UHL9-2]
    NP_057412.1. NM_016328.2. [Q9UHL9-1]
    UniGeneiHs.647056.

    Genome annotation databases

    EnsembliENST00000265755; ENSP00000265755; ENSG00000006704. [Q9UHL9-1]
    ENST00000424337; ENSP00000408477; ENSG00000006704. [Q9UHL9-2]
    ENST00000455841; ENSP00000397566; ENSG00000006704. [Q9UHL9-3]
    GeneIDi9569.
    KEGGihsa:9569.
    UCSCiuc003uap.3. human. [Q9UHL9-2]
    uc003uaq.3. human. [Q9UHL9-1]
    uc010lbq.3. human. [Q9UHL9-3]

    Polymorphism databases

    DMDMi21263630.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF118270 mRNA. Translation: AAD14687.2 .
    AF104923 mRNA. Translation: AAD27668.1 .
    AF151354 mRNA. Translation: AAF19786.1 .
    AF156489 mRNA. Translation: AAF17358.1 .
    AF089107 mRNA. Translation: AAF21796.1 .
    AY648295 mRNA. Translation: AAT68469.1 .
    AC004851 Genomic DNA. Translation: AAS00362.1 .
    AC005015 Genomic DNA. No translation available.
    AC005231 Genomic DNA. Translation: AAP21877.1 .
    BC018136 mRNA. Translation: AAH18136.1 .
    CCDSi CCDS47613.1. [Q9UHL9-2 ]
    CCDS5571.1. [Q9UHL9-1 ]
    CCDS56492.1. [Q9UHL9-3 ]
    RefSeqi NP_001186136.1. NM_001199207.1. [Q9UHL9-3 ]
    NP_005676.3. NM_005685.3. [Q9UHL9-2 ]
    NP_057412.1. NM_016328.2. [Q9UHL9-1 ]
    UniGenei Hs.647056.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2D99 NMR - A 128-203 [» ]
    2DN5 NMR - A 802-877 [» ]
    2DZQ NMR - A 565-650 [» ]
    2DZR NMR - A 705-790 [» ]
    ProteinModelPortali Q9UHL9.
    SMRi Q9UHL9. Positions 128-203, 351-427, 565-656, 702-790, 802-880.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114939. 9 interactions.
    IntActi Q9UHL9. 2 interactions.
    MINTi MINT-1209004.
    STRINGi 9606.ENSP00000265755.

    PTM databases

    PhosphoSitei Q9UHL9.

    Polymorphism databases

    DMDMi 21263630.

    Proteomic databases

    MaxQBi Q9UHL9.
    PaxDbi Q9UHL9.
    PRIDEi Q9UHL9.

    Protocols and materials databases

    DNASUi 9569.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265755 ; ENSP00000265755 ; ENSG00000006704 . [Q9UHL9-1 ]
    ENST00000424337 ; ENSP00000408477 ; ENSG00000006704 . [Q9UHL9-2 ]
    ENST00000455841 ; ENSP00000397566 ; ENSG00000006704 . [Q9UHL9-3 ]
    GeneIDi 9569.
    KEGGi hsa:9569.
    UCSCi uc003uap.3. human. [Q9UHL9-2 ]
    uc003uaq.3. human. [Q9UHL9-1 ]
    uc010lbq.3. human. [Q9UHL9-3 ]

    Organism-specific databases

    CTDi 9569.
    GeneCardsi GC07P073868.
    HGNCi HGNC:4661. GTF2IRD1.
    HPAi HPA044254.
    MIMi 604318. gene.
    neXtProti NX_Q9UHL9.
    Orphaneti 904. Williams syndrome.
    PharmGKBi PA29047.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29608.
    HOGENOMi HOG000112829.
    HOVERGENi HBG051855.
    InParanoidi Q9UHL9.
    KOi K03121.
    OMAi KGSRDCG.
    PhylomeDBi Q9UHL9.
    TreeFami TF352524.

    Miscellaneous databases

    EvolutionaryTracei Q9UHL9.
    GeneWikii GTF2IRD1.
    GenomeRNAii 9569.
    NextBioi 35885.
    PROi Q9UHL9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHL9.
    Bgeei Q9UHL9.
    CleanExi HS_GTF2IRD1.
    Genevestigatori Q9UHL9.

    Family and domain databases

    Gene3Di 3.90.1460.10. 5 hits.
    InterProi IPR004212. GTF2I.
    IPR016659. TF_II-I.
    [Graphical view ]
    Pfami PF02946. GTF2I. 5 hits.
    [Graphical view ]
    PIRSFi PIRSF016441. TF_II-I. 1 hit.
    SUPFAMi SSF117773. SSF117773. 5 hits.
    PROSITEi PS51139. GTF2I. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel slow-muscle-fiber enhancer binding protein, MUSTRD1."
      O'Mahoney J.V., Guven K.L., Lin J., Joya J.E., Robinson C.S., Wade R.P., Hardeman E.C.
      Mol. Cell. Biol. 18:6641-6652(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Muscle.
    2. "Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome."
      Osborne L.R., Campbell T., Daradich A., Scherer S.W., Tsui L.-C.
      Genomics 57:279-284(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Colon carcinoma.
    3. "A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome."
      Tassabehji M., Carette M., Wilmot C., Donnai D., Read A.P., Metcalfe K.
      Eur. J. Hum. Genet. 7:737-747(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    4. "Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23."
      Franke Y., Peoples R.J., Francke U.
      Cytogenet. Cell Genet. 86:296-304(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT VAL-652.
    5. "Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I."
      Yan X., Zhao X., Qian M., Guo N., Gong X., Zhu X.
      Biochem. J. 345:749-757(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH RB1, MUTAGENESIS, VARIANT VAL-652.
      Tissue: Cervix carcinoma, Fetal spleen and Placenta.
    6. "GTF2IRD1 represses transcription from a conserved DNA element upstream of three separate promoters."
      Cunliffe P., Hart-Holden N., Hinsley T., Sharrocks A.D., Tassabehji M.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    7. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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 1), VARIANT VAL-652.
      Tissue: Uterus.
    9. "Repression of TFII-I-dependent transcription by nuclear exclusion."
      Tussie-Luna M.I., Bayarsaihan D., Ruddle F.H., Roy A.L.
      Proc. Natl. Acad. Sci. U.S.A. 98:7789-7794(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-654 (ISOFORM 2), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-686 (ISOFORM 3), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. "Solution structure of RSGI RUH-048 and RUH-057, a GTF2I domain in human."
      RIKEN structural genomics initiative (RSGI)
      Submitted (MAR-2007) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 128-203 AND 565-877.

    Entry informationi

    Entry nameiGT2D1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHL9
    Secondary accession number(s): O95444
    , Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UI91
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 27, 2002
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 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 7
      Human chromosome 7: 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