Cell atlas - GTF2IRD1 - The Human Protein Atlas

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GTF2IRD1

TISSUE

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CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS CUSTOM DATA

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nucleoplasm

Human cell
	Cytosol
	Nucleoplasm

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GENERAL INFORMATION
Gene name	GTF2IRD1
Gene description	GTF2I repeat domain containing 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the nucleoplasm. In addition localized to the cytosol.
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (supported)
Additional location	In addition localized to the Cytosol (approved)
Single-cell variation	Single-cell variation in protein expression observed.
Cell cycle dependency	Cell cycle dependent expression determined by custom assay

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA044254
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleoplasm. In addition localized to the cytosol.

Main location

Nucleoplasm (supported)

Additional location

Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA044254	A-431	Nucleoplasm
	HPA044254	A-431	Cytosol
	HPA044254	U-2 OS	Nucleoplasm	Intensity	Intensity
	HPA044254	U-2 OS	Cytosol
	HPA044254	U-251 MG	Nucleoplasm
	HPA044254	U-251 MG	Cytosol

CUSTOM DATA


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Thumbnail	Antibody	Cell line	Assay	Description
	HPA044254	U-2 OS	Image	Staining of U-2 OS FUCCI cells, to characterize the cell cycle dependency of the protein expression pattern. The FUCCI cells, Fluorescence Ubiquitination Cell Cycle Indicator, are cells tagged with different fluorescent proteins fused to two different cell cycle regulators Cdt1 (expressed in G1 phase) and Geminin (expressed in S and G2 phases) that allows cell cycle monitoring. When both proteins are present, the overlay of the images appear in yellow marking the G1/S transition. GTF2IRD1 is mostly expressed during S and/or G2, and during Mitosis.

CELL CYCLE
Summary	Expression has cell cycle dependency according to custom assay
Intensity variation	Nucleoplasm

GENE INFORMATION
Gene name	GTF2IRD1 (HGNC Symbol)
Synonyms	BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12
Description	GTF2I repeat domain containing 1 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Chromosome	7
Cytoband	q11.23
Chromosome location (bp)	74453790 - 74602604
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000006704 (version 83.38)
Entrez gene	9569
UniProt	Q9UHL9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UHL9
Antibodypedia	GTF2IRD1 antibodies

PROTEIN BROWSER

GTF2IRD1-001	GTF2IRD1-002	GTF2IRD1-003	GTF2IRD1-005	GTF2IRD1-006

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GTF2IRD1-001 ENSP00000265755 ENST00000265755	Q9UHL9 [Direct mapping] General transcription factor II-I repeat domain-containing protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0007275 [multicellular organismal development] Show all	959 aa 106.1 kDa	No	0
GTF2IRD1-002 ENSP00000397566 ENST00000455841	Q9UHL9 [Direct mapping] General transcription factor II-I repeat domain-containing protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0007275 [multicellular organismal development] GO:0014886 [transition between slow and fast fiber] Show all	976 aa 108 kDa	No	0
GTF2IRD1-003 ENSP00000418383 ENST00000476977	E9PFE2 [Direct mapping] General transcription factor II-I repeat domain-containing protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] Show all	960 aa 106 kDa	No	0
GTF2IRD1-005 ENSP00000408477 ENST00000424337	Q9UHL9 [Direct mapping] General transcription factor II-I repeat domain-containing protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0007275 [multicellular organismal development] Show all	944 aa 104.7 kDa	No	0
GTF2IRD1-006 ENSP00000417909 ENST00000470715	H7C4Q8 [Direct mapping] General transcription factor II-I repeat domain-containing protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		275 aa 30.8 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.