IKZF1 - Gene info - The Human Protein Atlas

IKZF1

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TISSUE

SUBCELL

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CELL LINE

CANCER

GENE INFORMATION

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Gene name	IKZF1 (HGNC Symbol)
Synonyms	hIk-1, Hs.54452, IKAROS, LyF-1, PPP1R92, ZNFN1A1
Description	IKAROS family zinc finger 1 (Ikaros) (HGNC Symbol)
Entrez gene summary	This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]
Chromosome	7
Cytoband	p12.2
Chromosome location (bp)	50304124 - 50405101
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000185811 (version 78.38)
Entrez gene	10320
UniProt	Q13422 (UniProt - Evidence at protein level)
neXtProt	NX_Q13422
Antibodypedia	IKZF1 antibodies

PROTEIN VIEW

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IKZF1-001		IKZF1-002		IKZF1-003		IKZF1-004		IKZF1-006		IKZF1-007		IKZF1-201		IKZF1-202		IKZF1-203		IKZF1-204		IKZF1-205		IKZF1-206		IKZF1-207

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
IKZF1-001	ENSP00000331614 ENST00000331340	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0001779 [natural killer cell differentiation] GO:0003677 [DNA binding] GO:0003700 [sequence-specific DNA binding transcription factor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005721 [pericentric heterochromatin] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0030097 [hemopoiesis] GO:0030183 [B cell differentiation] GO:0030217 [T cell differentiation] GO:0030900 [forebrain development] GO:0040018 [positive regulation of multicellular organism growth] GO:0043565 [sequence-specific DNA binding] GO:0045660 [positive regulation of neutrophil differentiation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0046982 [protein heterodimerization activity] GO:0048535 [lymph node development] GO:0048538 [thymus development] GO:0048541 [Peyer's patch development] GO:0048732 [gland development] GO:0051138 [positive regulation of NK T cell differentiation] GO:0060041 [retina development in camera-type eye]	519	57.5	No	0
IKZF1-002	ENSP00000352123 ENST00000359197	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0046872 [metal ion binding]	477	52.7	No	0
IKZF1-003	ENSP00000396554 ENST00000438033	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0046872 [metal ion binding]	432	48.3	No	0
IKZF1-004	ENSP00000413025 ENST00000439701	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0046872 [metal ion binding]	477	52.7	No	0
IKZF1-006	ENSP00000409588 ENST00000426121	Q3T907 Show all » « Hide Q3T907 [Target identity:100%; Query identity:100%] DNA-binding protein Ikaros {ECO:0000313\|Ensembl:ENSP00000409588}; Zinc finger protein, subfamily 1A, 1 (Ikaros) {ECO:0000313\|EMBL:CAJ29975.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		67	7.2	No	0
IKZF1-007	ENSP00000388478 ENST00000413698	C9JTB0 Show all » « Hide C9JTB0 [Target identity:100%; Query identity:100%] DNA-binding protein Ikaros {ECO:0000313\|Ensembl:ENSP00000388478}	Show » « Hide Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		174	19.6	No	2
IKZF1-201	ENSP00000342750 ENST00000343574	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0046872 [metal ion binding]	432	48.3	No	0
IKZF1-202	ENSP00000340080 ENST00000346667		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		249	27.8	No	0
IKZF1-203	ENSP00000342485 ENST00000349824	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0046872 [metal ion binding]	376	41.2	No	0
IKZF1-204	ENSP00000349928 ENST00000357364	Q13422 Show all » « Hide Q13422 [Direct mapping] DNA-binding protein Ikaros	Show » « Hide Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0003677 [DNA binding] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007049 [cell cycle] GO:0007498 [mesoderm development] GO:0016568 [chromatin modification] GO:0046872 [metal ion binding]	432	47.6	No	0
IKZF1-205	ENSP00000401507 ENST00000440768		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		294	32.9	No	0
IKZF1-206	ENSP00000483016 ENST00000612658	R9R4D9 Show all » « Hide R9R4D9 [Target identity:100%; Query identity:100%] IKAROS family zinc finger 1 isoform 14 {ECO:0000313\|EMBL:AGI59420.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0046872 [metal ion binding]	268	30	No	0
IKZF1-207	ENSP00000478368 ENST00000615491		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0046872 [metal ion binding]	336	37.7	No	0

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