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Q9UHL9

- GT2D1_HUMAN

UniProt

Q9UHL9 - GT2D1_HUMAN

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Protein
General transcription factor II-I repeat domain-containing protein 1
Gene
GTF2IRD1, CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 Publication

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 from RNA polymerase II promoter Source: GOC
  3. regulation of transcription, DNA-templated Source: UniProtKB
  4. transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

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
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
Complete GO annotation...

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.
Add
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 1
PRO_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

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.

Miscellaneous databases

EvolutionaryTraceiQ9UHL9.

Family & Domainsi

Domains and Repeats

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

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi898 – 9058Nuclear localization signal Reviewed prediction

Compositional bias

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

Domaini

The N-terminal half may have an activating activity.

Sequence similaritiesi

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

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

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.
VSP_043425
Alternative sequencei656 – 67015Missing in isoform 2 and isoform 3.
VSP_003873Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti111 – 1111G → S in AAD14687. 1 Publication
Sequence conflicti111 – 1111G → S in AAD27668. 1 Publication
Sequence conflicti378 – 3781R → Q in AAF21796. 1 Publication

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]
ENST00000573381; ENSP00000460934; ENSG00000261920. [Q9UHL9-3]
ENST00000573543; ENSP00000461690; ENSG00000261920. [Q9UHL9-2]
ENST00000574416; ENSP00000458414; ENSG00000261920. [Q9UHL9-1]
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 ]
ENST00000573381 ; ENSP00000460934 ; ENSG00000261920 . [Q9UHL9-3 ]
ENST00000573543 ; ENSP00000461690 ; ENSG00000261920 . [Q9UHL9-2 ]
ENST00000574416 ; ENSP00000458414 ; ENSG00000261920 . [Q9UHL9-1 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 136 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

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