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Protein

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

Gene

GTF2IRD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GTF2IRD1
Synonyms:CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000006704.10

Human Gene Nomenclature Database

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HGNCi
HGNC:4661 GTF2IRD1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604318 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UHL9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi898 – 959Missing : Cytoplasmic localization. 1 PublicationAdd BLAST62

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
9569

MalaCards human disease database

More...
MalaCardsi
GTF2IRD1

Open Targets

More...
OpenTargetsi
ENSG00000006704

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
904 Williams syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29047

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GTF2IRD1

Domain mapping of disease mutations (DMDM)

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DMDMi
21263630

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000838701 – 959General transcription factor II-I repeat domain-containing protein 1Add BLAST959

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki27Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki94Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki184Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki212Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki225Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki238Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki271Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki294Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki308Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki337Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki436Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki439Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki443Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei448PhosphoserineCombined sources1
Cross-linki567Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki579Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki588Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki622Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki638Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki684Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki724Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki732Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki772Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki774Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki787Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki829Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki889Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 2 (identifier: Q9UHL9-2)
Cross-linki638Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki648Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei654PhosphoserineCombined sources1
Cross-linki669Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 3 (identifier: Q9UHL9-3)
Cross-linki670Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki680Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei686PhosphoserineCombined sources1
Cross-linki701Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UHL9

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UHL9

PeptideAtlas

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PeptideAtlasi
Q9UHL9

PRoteomics IDEntifications database

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PRIDEi
Q9UHL9

ProteomicsDB human proteome resource

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ProteomicsDBi
84377
84378 [Q9UHL9-2]
84379 [Q9UHL9-3]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q9UHL9

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UHL9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9UHL9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000006704 Expressed in 208 organ(s), highest expression level in adenohypophysis

CleanEx database of gene expression profiles

More...
CleanExi
HS_GTF2IRD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UHL9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UHL9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044254

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114939, 82 interactors

Protein interaction database and analysis system

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IntActi
Q9UHL9, 58 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000397566

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1959
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D99NMR-A128-203[»]
2DN5NMR-A802-877[»]
2DZQNMR-A565-650[»]
2DZRNMR-A705-790[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UHL9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UHL9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9UHL9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati119 – 213GTF2I-like 1Add BLAST95
Repeati342 – 436GTF2I-like 2Add BLAST95
Repeati556 – 650GTF2I-like 3Add BLAST95
Repeati696 – 790GTF2I-like 4Add BLAST95
Repeati793 – 887GTF2I-like 5Add BLAST95

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi898 – 905Nuclear localization signalSequence analysis8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi906 – 930Ser-richAdd BLAST25

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal half may have an activating activity.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TFII-I family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IEPZ Eukaryota
ENOG41100H8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159414

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112829

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051855

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UHL9

KEGG Orthology (KO)

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KOi
K03121

Identification of Orthologs from Complete Genome Data

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OMAi
PWKEPEA

Database of Orthologous Groups

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OrthoDBi
1437076at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UHL9

TreeFam database of animal gene trees

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TreeFami
TF352524

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.90.1460.10, 5 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR016659 TF_II-I
IPR026625 TFII-I-rel

The PANTHER Classification System

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PANTHERi
PTHR11697 PTHR11697, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02946 GTF2I, 5 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF016441 TF_II-I, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF117773 SSF117773, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51139 GTF2I, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA
60 70 80 90 100
EVACVAVHDE SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH
110 120 130 140 150
PKKVQRGEGG GRSLPRSSLE HGSDVYLLRK MVEEVFDVLY SEALGRASVV
160 170 180 190 200
PLPYERLLRE PGLLAVQGLP EGLAFRRPAE YDPKALMAIL EHSHRIRFKL
210 220 230 240 250
KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP PQDLPPTATS
260 270 280 290 300
SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
310 320 330 340 350
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT
360 370 380 390 400
LRECVQILFN SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR
410 420 430 440 450
PCTYGVPKLK RILEERHSIH FIIKRMFDER IFTGNKFTKD TTKLEPASPP
460 470 480 490 500
EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC GPGTSGELGG LRPIKIEPED
510 520 530 540 550
LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD KGLSEDARPE
560 570 580 590 600
ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
610 620 630 640 650
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP
660 670 680 690 700
IMDSQGTASS LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID
710 720 730 740 750
IANTLREQVQ DLFNKKYGEA LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI
760 770 780 790 800
PFRKPCTFGS QNLERILAVA DKIKFTVTRP FQGLIPKPDE DDANRLGEKV
810 820 830 840 850
ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV TGLPDDIPFR
860 870 880 890 900
NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR
910 920 930 940 950
KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN

VQLPGPLNY
Length:959
Mass (Da):106,057
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PFE2E9PFE2_HUMAN
General transcription factor II-I r...
GTF2IRD1
960Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C4Q8H7C4Q8_HUMAN
General transcription factor II-I r...
GTF2IRD1
275Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti111G → S in AAD14687 (PubMed:9774679).Curated1
Sequence conflicti111G → S in AAD27668 (PubMed:10198167).Curated1
Sequence conflicti378R → Q in AAF21796 (PubMed:10642537).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013446652M → V3 PublicationsCorresponds to variant dbSNP:rs2301895Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04342589R → LSAAQHRAATSQLEGRVVRR VLTVASRALCPTG in isoform 3. 1 Publication1
Alternative sequenceiVSP_003873656 – 670Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST15

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47613.1 [Q9UHL9-2]
CCDS5571.1 [Q9UHL9-1]
CCDS56492.1 [Q9UHL9-3]

NCBI Reference Sequences

More...
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]
XP_016868293.1, XM_017012804.1 [Q9UHL9-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.647056

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265755; ENSP00000265755; ENSG00000006704 [Q9UHL9-1]
ENST00000424337; ENSP00000408477; ENSG00000006704 [Q9UHL9-2]
ENST00000455841; ENSP00000397566; ENSG00000006704 [Q9UHL9-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9569

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9569

UCSC genome browser

More...
UCSCi
uc032zrv.2 human [Q9UHL9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_016868293.1, XM_017012804.1 [Q9UHL9-2]
UniGeneiHs.647056

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D99NMR-A128-203[»]
2DN5NMR-A802-877[»]
2DZQNMR-A565-650[»]
2DZRNMR-A705-790[»]
ProteinModelPortaliQ9UHL9
SMRiQ9UHL9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114939, 82 interactors
IntActiQ9UHL9, 58 interactors
STRINGi9606.ENSP00000397566

PTM databases

CarbonylDBiQ9UHL9
iPTMnetiQ9UHL9
PhosphoSitePlusiQ9UHL9

Polymorphism and mutation databases

BioMutaiGTF2IRD1
DMDMi21263630

Proteomic databases

jPOSTiQ9UHL9
PaxDbiQ9UHL9
PeptideAtlasiQ9UHL9
PRIDEiQ9UHL9
ProteomicsDBi84377
84378 [Q9UHL9-2]
84379 [Q9UHL9-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9569
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265755; ENSP00000265755; ENSG00000006704 [Q9UHL9-1]
ENST00000424337; ENSP00000408477; ENSG00000006704 [Q9UHL9-2]
ENST00000455841; ENSP00000397566; ENSG00000006704 [Q9UHL9-3]
GeneIDi9569
KEGGihsa:9569
UCSCiuc032zrv.2 human [Q9UHL9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9569
DisGeNETi9569
EuPathDBiHostDB:ENSG00000006704.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GTF2IRD1
HGNCiHGNC:4661 GTF2IRD1
HPAiHPA044254
MalaCardsiGTF2IRD1
MIMi604318 gene
neXtProtiNX_Q9UHL9
OpenTargetsiENSG00000006704
Orphaneti904 Williams syndrome
PharmGKBiPA29047

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEPZ Eukaryota
ENOG41100H8 LUCA
GeneTreeiENSGT00940000159414
HOGENOMiHOG000112829
HOVERGENiHBG051855
InParanoidiQ9UHL9
KOiK03121
OMAiPWKEPEA
OrthoDBi1437076at2759
PhylomeDBiQ9UHL9
TreeFamiTF352524

Miscellaneous databases

EvolutionaryTraceiQ9UHL9

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GTF2IRD1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9569

Protein Ontology

More...
PROi
PR:Q9UHL9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000006704 Expressed in 208 organ(s), highest expression level in adenohypophysis
CleanExiHS_GTF2IRD1
ExpressionAtlasiQ9UHL9 baseline and differential
GenevisibleiQ9UHL9 HS

Family and domain databases

Gene3Di3.90.1460.10, 5 hits
InterProiView protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR016659 TF_II-I
IPR026625 TFII-I-rel
PANTHERiPTHR11697 PTHR11697, 1 hit
PfamiView protein in Pfam
PF02946 GTF2I, 5 hits
PIRSFiPIRSF016441 TF_II-I, 1 hit
SUPFAMiSSF117773 SSF117773, 5 hits
PROSITEiView protein in PROSITE
PS51139 GTF2I, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGT2D1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UHL9
Secondary accession number(s): O95444
, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UI91
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 1, 2000
Last modified: January 16, 2019
This is version 176 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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