Q9UHL9 (GT2D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GTF2IRD1
Synonyms:	CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	959 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.9
Subunit structure	Interacts with the retinoblastoma protein (RB1) via its C-terminus. Ref.5
Subcellular location	Nucleus.
Tissue specificity	Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
Developmental stage	Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.
Domain	The N-terminal half may have an activating activity.
Involvement in disease	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.
Sequence similarities	Belongs to the TFII-I family. Contains 5 GTF2I-like repeats.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Williams-Beuren syndrome
Domain	Repeat
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	embryo development Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleus Non-traceable author statement Ref.9. Source: UniProtKB
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UHL9-1)

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.

Isoform 2 (identifier: Q9UHL9-2)

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

Note: Contains a phosphoserine at position 654.

Isoform 3 (identifier: Q9UHL9-3)

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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 959

959

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

PRO_0000083870

Regions

Repeat

119 – 213

95

GTF2I-like 1

Repeat

342 – 436

95

GTF2I-like 2

Repeat

556 – 650

95

GTF2I-like 3

Repeat

696 – 790

95

GTF2I-like 4

Repeat

793 – 887

95

GTF2I-like 5

Motif

898 – 905

8

Nuclear localization signal Potential

Compositional bias

906 – 930

25

Ser-rich

Amino acid modifications

Modified residue

448

1

Phosphoserine Ref.10 Ref.12 Ref.13

Natural variations

Alternative sequence

89

1

R → LSAAQHRAATSQLEGRVVRR VLTVASRALCPTG in isoform 3.

VSP_043425

Alternative sequence

656 – 670

15

Missing in isoform 2 and isoform 3.

VSP_003873

Natural variant

652

1

M → V. Ref.4 Ref.5 Ref.8
Corresponds to variant rs2301895 [ dbSNP | Ensembl ].

VAR_013446

Experimental info

Mutagenesis

898 – 959

62

Missing: Cytoplasmic localization.

Sequence conflict

111

1

G → S in AAD14687. Ref.1

Sequence conflict

111

1

G → S in AAD27668. Ref.2

Sequence conflict

378

1

R → Q in AAF21796. Ref.5

Secondary structure

1

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959

Helix Strand Turn

Details...

Helix

128 – 144

17

Helix

154 – 159

6

Turn

161 – 163

3

Beta strand

164 – 168

5

Turn

178 – 180

3

Helix

183 – 192

10

Turn

193 – 195

3

Beta strand

197 – 203

7

Helix

565 – 580

16

Helix

591 – 596

6

Turn

598 – 600

3

Beta strand

601 – 605

5

Turn

615 – 617

3

Helix

620 – 628

9

Turn

629 – 632

4

Beta strand

634 – 638

5

Helix

640 – 642

3

Helix

705 – 721

17

Helix

731 – 736

6

Beta strand

738 – 745

8

Helix

755 – 757

3

Helix

760 – 769

10

Turn

770 – 772

3

Beta strand

774 – 777

4

Helix

802 – 817

16

Helix

828 – 833

6

Beta strand

837 – 842

6

Beta strand

852 – 854

3

Helix

857 – 864

8

Turn

865 – 869

5

Beta strand

871 – 876

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 7DA3097879701540	FASTA	959	106,057
	10 20 30 40 50 60 MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE 70 80 90 100 110 120 SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE 130 140 150 160 170 180 HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE 190 200 210 220 230 240 YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP 250 260 270 280 290 300 PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD 310 320 330 340 350 360 FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN 370 380 390 400 410 420 SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH 430 440 450 460 470 480 FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC 490 500 510 520 530 540 GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD 550 560 570 580 590 600 KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE 610 620 630 640 650 660 LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQGTASS 670 680 690 700 710 720 LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID IANTLREQVQ DLFNKKYGEA 730 740 750 760 770 780 LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI PFRKPCTFGS QNLERILAVA DKIKFTVTRP 790 800 810 820 830 840 FQGLIPKPDE DDANRLGEKV ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV 850 860 870 880 890 900 TGLPDDIPFR NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR 910 920 930 940 950 KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN VQLPGPLNY
	Isoform 2 [UniParc]. Checksum: 57E1190182D1D33F	FASTA	944	104,677
	10 20 30 40 50 60 MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE 70 80 90 100 110 120 SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE 130 140 150 160 170 180 HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE 190 200 210 220 230 240 YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP 250 260 270 280 290 300 PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD 310 320 330 340 350 360 FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN 370 380 390 400 410 420 SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH 430 440 450 460 470 480 FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC 490 500 510 520 530 540 GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD 550 560 570 580 590 600 KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE 610 620 630 640 650 660 LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQERDSG 670 680 690 700 710 720 DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK 730 740 750 760 770 780 SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR 790 800 810 820 830 840 LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY 850 860 870 880 890 900 DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS 910 920 930 940 SSSSSSSSNP DSVASANQIS LVQWPMYMVD YAGLNVQLPG PLNY
	Isoform 3 [UniParc]. Checksum: 674D8406B5D6A618	FASTA	976	107,979
	10 20 30 40 50 60 MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE 70 80 90 100 110 120 SAFVVGTEKG RMFLNARKEL QSDFLRFCLS AAQHRAATSQ LEGRVVRRVL TVASRALCPT 130 140 150 160 170 180 GGPPWKDPEA EHPKKVQRGE GGGRSLPRSS LEHGSDVYLL RKMVEEVFDV LYSEALGRAS 190 200 210 220 230 240 VVPLPYERLL REPGLLAVQG LPEGLAFRRP AEYDPKALMA ILEHSHRIRF KLKRPLEDGG 250 260 270 280 290 300 RDSKALVELN GVSLIPKGSR DCGLHGQAPK VPPQDLPPTA TSSSMASFLY STALPNHAIR 310 320 330 340 350 360 ELKQEAPSCP LAPSDLGLSR PMPEPKATGA QDFSDCCGQK PTGPGGPLIQ NVHASKRILF 370 380 390 400 410 420 SIVHDKSEKW DAFIKETEDI NTLRECVQIL FNSRYAEALG LDHMVPVPYR KIACDPEAVE 430 440 450 460 470 480 IVGIPDKIPF KRPCTYGVPK LKRILEERHS IHFIIKRMFD ERIFTGNKFT KDTTKLEPAS 490 500 510 520 530 540 PPEDTSAEVS RATVLDLAGN ARSDKGSMSE DCGPGTSGEL GGLRPIKIEP EDLDIIQVTV 550 560 570 580 590 600 PDPSPTSEEM TDSMPGHLPS EDSGYGMEML TDKGLSEDAR PEERPVEDSH GDVIRPLRKQ 610 620 630 640 650 660 VELLFNTRYA KAIGISEPVK VPYSKFLMHP EELFVVGLPE GISLRRPNCF GIAKLRKILE 670 680 690 700 710 720 ASNSIQFVIK RPELLTEGVK EPIMDSQERD SGDPLVDESL KRQGFQENYD ARLSRIDIAN 730 740 750 760 770 780 TLREQVQDLF NKKYGEALGI KYPVQVPYKR IKSNPGSVII EGLPPGIPFR KPCTFGSQNL 790 800 810 820 830 840 ERILAVADKI KFTVTRPFQG LIPKPDEDDA NRLGEKVILR EQVKELFNEK YGEALGLNRP 850 860 870 880 890 900 VLVPYKLIRD SPDAVEVTGL PDDIPFRNPN TYDIHRLEKI LKAREHVRMV IINQLQPFAE 910 920 930 940 950 960 ICNDAKVPAK DSSIPKRKRK RVSEGNSVSS SSSSSSSSSS NPDSVASANQ ISLVQWPMYM 970 VDYAGLNVQL PGPLNY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-654 (ISOFORM 2), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-686 (ISOFORM 3), MASS SPECTROMETRY. Tissue: Embryonic kidney.
[12]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00069694.
IPI00454912.
IPI00472179.

RefSeq

NP_001186136.1. NM_001199207.1.
NP_005676.3. NM_005685.3.
NP_057412.1. NM_016328.2.

UniGene

Hs.647056.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q9UHL9.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UHL9. 2 interactions.

MINT

MINT-1209004.

STRING

9606.ENSP00000265755.

PTM databases

PhosphoSite

Q9UHL9.

Polymorphism databases

DMDM

21263630.

Proteomic databases

PaxDb

Q9UHL9.

PRIDE

Q9UHL9.

Protocols and materials databases

DNASU

9569.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000265755; ENSP00000265755; ENSG00000006704.
ENST00000424337; ENSP00000408477; ENSG00000006704.
ENST00000455841; ENSP00000397566; ENSG00000006704.
ENST00000573381; ENSP00000460934; ENSG00000261920.
ENST00000573543; ENSP00000461690; ENSG00000261920.
ENST00000574416; ENSP00000458414; ENSG00000261920.

GeneID

9569.

KEGG

hsa:9569.

UCSC

uc003uap.3. human.
uc003uaq.3. human.

Organism-specific databases

CTD

9569.

GeneCards

GC07P073868.

HGNC

HGNC:4661. GTF2IRD1.

HPA

HPA044254.

MIM

604318. gene.

neXtProt

NX_Q9UHL9.

Orphanet

904. Williams syndrome.

PharmGKB

PA29047.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG29608.

HOGENOM

HOG000112829.

HOVERGEN

HBG051855.

InParanoid

Q9UHL9.

KO

K03121.

OMA

DFLRFCR.

OrthoDB

EOG4NKBV2.

PhylomeDB

Q9UHL9.

Gene expression databases

ArrayExpress

Q9UHL9.

Bgee

Q9UHL9.

CleanEx

HS_GTF2IRD1.

Genevestigator

Q9UHL9.

Family and domain databases

Gene3D

3.90.1460.10. 5 hits.

InterPro

IPR004212. GTF2I.
IPR016659. TF_II-I.
[Graphical view]

Pfam

PF02946. GTF2I. 5 hits.
[Graphical view]

PIRSF

PIRSF016441. TF_II-I. 1 hit.

SUPFAM

SSF117773. SSF117773. 5 hits.

PROSITE

PS51139. GTF2I. 5 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9UHL9.

GenomeRNAi

9569.

NextBio

35885.

SOURCE

Search...

Entry information

Entry name

GT2D1_HUMAN

Accession

Primary (citable) accession number: Q9UHL9
Secondary accession number(s): O95444 , Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UI91

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 27, 2002
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 124 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.