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Protein

DNA-binding protein Ikaros

Gene

IKZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).By similarity4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei159Required for both pericentromeric heterochromatin localization and complete DNA bindingBy similarity1
Sitei162Required for both pericentromeric heterochromatin localization and complete DNA bindingBy similarity1
Sitei188Required for both pericentromeric heterochromatin localization and DNA bindingBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri117 – 139C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri145 – 167C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri173 – 195C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri201 – 224C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri462 – 484C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 514C2H2-type 6PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • DNA-binding transcription factor activity Source: GO_Central
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • metal ion binding Source: UniProtKB-KW
  • protein domain specific binding Source: CAFA
  • transcription regulatory region DNA binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionActivator, Chromatin regulator, Developmental protein, DNA-binding, Repressor
Biological processCell cycle, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
SignaLinkiQ13422
SIGNORiQ13422

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein Ikaros
Alternative name(s):
Ikaros family zinc finger protein 1
Lymphoid transcription factor LyF-1
Gene namesi
Name:IKZF1
Synonyms:IK1, IKAROS, LYF1, ZNFN1A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000185811.16
HGNCiHGNC:13176 IKZF1
MIMi603023 gene
neXtProtiNX_Q13422

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in IKZF1 are frequent occurrences (28.6%) in acute lymphoblasic leukemia (ALL). Such alterations or deletions lead to poor prognosis for ALL.
Chromosomal aberrations involving IKZF1 are a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;7)(q27;p12), with BCL6.
Immunodeficiency, common variable, 13 (CVID13)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers.
See also OMIM:616873
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076401162R → L in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs770551610EnsemblClinVar.1
Natural variantiVAR_076402162R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs770551610EnsemblClinVar.1
Natural variantiVAR_076403167H → R in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs869312884EnsemblClinVar.1
Natural variantiVAR_076404184R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs869312885EnsemblClinVar.1
Natural variantiVAR_076405210Y → C in CVID13; decreases binding to pericentromeric heterochromatin DNA; has diffuse nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs869312883EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi159N → A: Abolishes binding to DNA and has diffuse nuclear localization. 1 Publication1
Mutagenesisi191H → R: Abolishes binding to DNA and has diffuse nuclear localization. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10320
MalaCardsiIKZF1
MIMi616873 phenotype
OpenTargetsiENSG00000185811
Orphaneti317473 Pancytopenia due to IKZF1 mutations
99860 Precursor B-cell acute lymphoblastic leukemia
36426 Stevens-Johnson syndrome
PharmGKBiPA37748

Polymorphism and mutation databases

BioMutaiIKZF1
DMDMi3913926

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000470941 – 519DNA-binding protein IkarosAdd BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineBy similarity1
Modified residuei23PhosphothreonineBy similarity1
Cross-linki58Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei63PhosphoserineCombined sources1
Modified residuei101PhosphoserineBy similarity1
Modified residuei140PhosphothreonineBy similarity1
Modified residuei168PhosphoserineBy similarity1
Modified residuei196PhosphoserineBy similarity1
Cross-linki241Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei258PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1
Modified residuei289PhosphoserineCombined sources1
Modified residuei295PhosphoserineBy similarity1
Modified residuei298PhosphoserineCombined sources1
Modified residuei361PhosphoserineCombined sources1 Publication1
Modified residuei364PhosphoserineCombined sources1 Publication1
Modified residuei368PhosphoserineCombined sources1
Modified residuei389PhosphoserineBy similarity1
Modified residuei391PhosphoserineBy similarity1
Modified residuei393PhosphoserineBy similarity1
Modified residuei397PhosphoserineBy similarity1
Modified residuei398PhosphothreonineBy similarity1
Modified residuei402PhosphoserineBy similarity1
Modified residuei427PhosphoserineCombined sources1
Modified residuei445PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation controls cell-cycle progression from late G1 stage to S stage. Hyperphosphorylated during G2/M phase. Dephosphorylated state during late G1 phase. Phosphorylation on Thr-140 is required for DNA and pericentromeric location during mitosis. CK2 is the main kinase, in vitro. GSK3 and CDK may also contribute to phosphorylation of the C-terminal serine and threonine residues. Phosphorylation on these C-terminal residues reduces the DNA-binding ability. Phosphorylation/dephosphorylation events on Ser-13 and Ser-295 regulate TDT expression during thymocyte differentiation. Dephosphorylation by protein phosphatase 1 regulates stability and pericentromeric heterochromatin location. Phosphorylated in both lymphoid and non-lymphoid tissues (By similarity). Phosphorylation at Ser-361 and Ser-364 downstream of SYK induces nuclear translocation.By similarity2 Publications
Sumoylated. Simulataneous sumoylation on the 2 sites results in a loss of both HDAC-dependent and HDAC-independent repression. Has no effect on pericentromeric heterochromatin location. Desumoylated by SENP1 (By similarity).By similarity
Polyubiquitinated.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ13422
MaxQBiQ13422
PaxDbiQ13422
PeptideAtlasiQ13422
PRIDEiQ13422
ProteomicsDBi59401
59402 [Q13422-2]
59403 [Q13422-3]
59404 [Q13422-4]
59405 [Q13422-5]
59406 [Q13422-6]
59407 [Q13422-7]

PTM databases

iPTMnetiQ13422
PhosphoSitePlusiQ13422

Expressioni

Tissue specificityi

Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine.2 Publications

Gene expression databases

BgeeiENSG00000185811 Expressed in 184 organ(s), highest expression level in leukocyte
CleanExiHS_IKZF1
ExpressionAtlasiQ13422 baseline and differential
GenevisibleiQ13422 HS

Organism-specific databases

HPAiCAB009247
HPA035221
HPA035222

Interactioni

Subunit structurei

Heterodimer formed by the various isoforms; this modulates transcription regulator activity (PubMed:17135265, PubMed:17934067). Heterodimer with other IKAROS family members. Interacts with IKZF4 AND IKZF5 (PubMed:10978333). Component of the chromatin-remodeling NuRD repressor complex which includes at least HDAC1, HDAC2, RBBP4, RBBP7, IKZF1, MTA2, MBD2, MBD3, MTA1L1, CHD3 and CHD4. Interacts directly with the CHD4 component of the NuRD complex. Interacts directly with SMARCA4; the interaction associates IKFZ1 with the BAF complex (PubMed:10204490). Interacts with SUMO1; the interaction sumoylates IKAROS, promoted by PIAS2 and PIAS3. Interacts with PIAS2 (isoform alpha); the interaction promotes sumoylation and reduces transcription repression. Interacts, to a lesser extent, with PIAS3. Interacts with PPP1CC; the interaction targets PPP1CC to pericentromeric heterochromatin, dephosphorylates IKAROS, stabilizes it and prevents it from degradation. Interacts with IKZF3 (By similarity).By similarity2 Publications2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
A8K9323EBI-745305,EBI-10174671
AENQ8WTP83EBI-745305,EBI-8637627
ALKBH3Q96Q833EBI-745305,EBI-6658697
AP1M1Q9BXS53EBI-745305,EBI-541426
ARMC7Q9H6L43EBI-745305,EBI-742909
BYSLQ138955EBI-745305,EBI-358049
C1orf109Q9NX043EBI-745305,EBI-8643161
C1orf174Q8IYL33EBI-745305,EBI-715898
C8orf33Q9H7E93EBI-745305,EBI-715389
CBX8Q9HC523EBI-745305,EBI-712912
CEP57L1Q8IYX8-23EBI-745305,EBI-10181988
CKS1BP610243EBI-745305,EBI-456371
CRBNQ96SW2-22EBI-11522367,EBI-10693561
CTBP1Q13363-24EBI-11522367,EBI-10171858
CTBP2P565455EBI-745305,EBI-741533
CTBP2P56545-33EBI-745305,EBI-10171902
DCXO436024EBI-745305,EBI-8646694
DDX6P261963EBI-745305,EBI-351257
DYRK2Q926303EBI-745305,EBI-749432
FAM161AQ3B8203EBI-745305,EBI-719941
FAM214BQ7L5A34EBI-745305,EBI-745689
FAM50BQ9Y2474EBI-745305,EBI-742802
FAM74A6Q5TZK33EBI-745305,EBI-10247271
FGF12P613283EBI-745305,EBI-6657662
FRMD6Q96NE93EBI-745305,EBI-741729
GLRX3O760033EBI-745305,EBI-374781
GMCL2Q8NEA93EBI-745305,EBI-745707
ISCUQ9H1K13EBI-745305,EBI-1047335
LHX4A0A0S2Z5S93EBI-11522367,EBI-16429099
LMO3Q8TAP43EBI-745305,EBI-742259
LSM4Q9Y4Z03EBI-745305,EBI-372521
MAD2L2Q9UI953EBI-745305,EBI-77889
MCRS1Q96EZ83EBI-745305,EBI-348259
MORF4L1Q9UBU83EBI-745305,EBI-399246
MORF4L2Q150143EBI-745305,EBI-399257
MTA1Q133303EBI-745305,EBI-714236
NEK6Q9HC983EBI-745305,EBI-740364
NME7Q9Y5B85EBI-11522367,EBI-744782
NOC4LQ9BVI43EBI-745305,EBI-395927
PIN1Q135263EBI-745305,EBI-714158
PNKPQ96T603EBI-745305,EBI-1045072
PRKAB2O437413EBI-745305,EBI-1053424
PSMA1P257863EBI-745305,EBI-359352
PSMA4P257893EBI-745305,EBI-359310
RAD51DO757714EBI-745305,EBI-1055693
RNF6A0A0S2Z4G93EBI-11522367,EBI-16428950
RWDD2BP570604EBI-745305,EBI-724442
RYDENQ9NUL53EBI-745305,EBI-10313866
SCNM1Q9BWG63EBI-745305,EBI-748391
SDCBPO005603EBI-745305,EBI-727004
SH2D4AQ9H7883EBI-745305,EBI-747035
SNRPFP623063EBI-745305,EBI-356900
SNW1Q135733EBI-745305,EBI-632715
SPATC1LQ9H0A93EBI-745305,EBI-372911
SYT17Q9BSW73EBI-745305,EBI-745392
UBE2IQ7KZS03EBI-745305,EBI-10180829
WTAPQ150074EBI-11522367,EBI-751647
ZMAT2Q96NC03EBI-745305,EBI-2682299
ZNF417Q8TAU33EBI-745305,EBI-740727
ZNF581Q9P0T43EBI-745305,EBI-745520

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115604, 138 interactors
DIPiDIP-41110N
ELMiQ13422
IntActiQ13422, 99 interactors
MINTiQ13422
STRINGi9606.ENSP00000331614

Structurei

3D structure databases

ProteinModelPortaliQ13422
SMRiQ13422
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni154 – 163Required for both high-affinity DNA binding and pericentromeric heterochromatin localizationBy similarity10
Regioni180 – 195Required for both high-affinity DNA binding and pericentromeric heterochromatin localizationBy similarityAdd BLAST16
Regioni468 – 471Required for binding PP1CCBy similarity4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi373 – 376Poly-Leu4

Domaini

The N-terminal zinc-fingers 2 and 3 are required for DNA binding as well as for targeting IKFZ1 to pericentromeric heterochromatin.By similarity
The C-terminal zinc-finger domain is required for dimerization.By similarity

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri117 – 139C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri145 – 167C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri173 – 195C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri201 – 224C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri462 – 484C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 514C2H2-type 6PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00550000074392
HOVERGENiHBG060915
InParanoidiQ13422
KOiK09220
OMAiVCGIICI
OrthoDBiEOG091G05E2
PhylomeDBiQ13422
TreeFamiTF331189

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 3 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 6 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform Ik1 (identifier: Q13422-1) [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
MDADEGQDMS QVSGKESPPV SDTPDEGDEP MPIPEDLSTT SGGQQSSKSD
60 70 80 90 100
RVVASNVKVE TQSDEENGRA CEMNGEECAE DLRMLDASGE KMNGSHRDQG
110 120 130 140 150
SSALSGVGGI RLPNGKLKCD ICGIICIGPN VLMVHKRSHT GERPFQCNQC
160 170 180 190 200
GASFTQKGNL LRHIKLHSGE KPFKCHLCNY ACRRRDALTG HLRTHSVGKP
210 220 230 240 250
HKCGYCGRSY KQRSSLEEHK ERCHNYLESM GLPGTLYPVI KEETNHSEMA
260 270 280 290 300
EDLCKIGSER SLVLDRLASN VAKRKSSMPQ KFLGDKGLSD TPYDSSASYE
310 320 330 340 350
KENEMMKSHV MDQAINNAIN YLGAESLRPL VQTPPGGSEV VPVISPMYQL
360 370 380 390 400
HKPLAEGTPR SNHSAQDSAV ENLLLLSKAK LVPSEREASP SNSCQDSTDT
410 420 430 440 450
ESNNEEQRSG LIYLTNHIAP HARNGLSLKE EHRAYDLLRA ASENSQDALR
460 470 480 490 500
VVSTSGEQMK VYKCEHCRVL FLDHVMYTIH MGCHGFRDPF ECNMCGYHSQ
510
DRYEFSSHIT RGEHRFHMS
Length:519
Mass (Da):57,528
Last modified:November 1, 1996 - v1
Checksum:i7B0129C4E3FE41A8
GO
Isoform Ik2 (identifier: Q13422-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-140: Missing.

Show »
Length:432
Mass (Da):48,289
Checksum:iE8E57F8BF5B306E6
GO
Isoform Ik3 (identifier: Q13422-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     197-283: Missing.

Show »
Length:432
Mass (Da):47,634
Checksum:i1093D253341A95E8
GO
Isoform Ik4 (identifier: Q13422-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-53: Missing.
     197-283: Missing.

Show »
Length:388
Mass (Da):43,093
Checksum:i137C942A5278A9F0
GO
Isoform Ik5 (identifier: Q13422-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     141-283: Missing.

Show »
Length:376
Mass (Da):41,229
Checksum:i0B060551CB3E0082
GO
Isoform Ik6 (identifier: Q13422-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-283: Missing.

Show »
Length:289
Mass (Da):31,989
Checksum:iEB96A15185C62A18
GO
Isoform Ik7 (identifier: Q13422-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     197-238: Missing.

Show »
Length:477
Mass (Da):52,706
Checksum:iB19FE76450EA40E4
GO
Isoform Ikx (identifier: Q13422-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     197-238: Missing.
     260-268: RSLVLDRLA → ISRAGQTSK
     269-519: Missing.

Show »
Length:226
Mass (Da):24,470
Checksum:i2BB5B70D38F73264
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R9R4D9R9R4D9_HUMAN
DNA-binding protein Ikaros
IKZF1
268Annotation score:
A0A0A0MRA0A0A0A0MRA0_HUMAN
DNA-binding protein Ikaros
IKZF1
249Annotation score:
A0A087WU46A0A087WU46_HUMAN
DNA-binding protein Ikaros
IKZF1
336Annotation score:
A0A0A0MST1A0A0A0MST1_HUMAN
DNA-binding protein Ikaros
IKZF1
294Annotation score:
Q3T907Q3T907_HUMAN
DNA-binding protein Ikaros
IKZF1 ZNFN1A1
67Annotation score:
A0A2R8Y4T7A0A2R8Y4T7_HUMAN
DNA-binding protein Ikaros
IKZF1
170Annotation score:
C9JTB0C9JTB0_HUMAN
DNA-binding protein Ikaros
IKZF1
174Annotation score:
A0A2R8Y4D3A0A2R8Y4D3_HUMAN
DNA-binding protein Ikaros
IKZF1
77Annotation score:
A0A2R8YFR0A0A2R8YFR0_HUMAN
DNA-binding protein Ikaros
IKZF1
67Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11 – 12QV → FS in AAB50683 (PubMed:8543809).Curated2
Sequence conflicti214S → T in AAB50683 (PubMed:8543809).Curated1
Sequence conflicti245N → K in AAB50683 (PubMed:8543809).Curated1
Sequence conflicti296Missing in AAB50683 (PubMed:8543809).Curated1
Sequence conflicti298S → T in AAB50683 (PubMed:8543809).Curated1
Sequence conflicti352 – 355KPLA → RRS in AAB50683 (PubMed:8543809).Curated4
Sequence conflicti372N → Y in AAB50683 (PubMed:8543809).Curated1
Sequence conflicti420 – 426PHARNGL → RRAQRV in AAB50683 (PubMed:8543809).Curated7

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076401162R → L in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs770551610EnsemblClinVar.1
Natural variantiVAR_076402162R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs770551610EnsemblClinVar.1
Natural variantiVAR_076403167H → R in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs869312884EnsemblClinVar.1
Natural variantiVAR_076404184R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs869312885EnsemblClinVar.1
Natural variantiVAR_076405210Y → C in CVID13; decreases binding to pericentromeric heterochromatin DNA; has diffuse nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs869312883EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00684710 – 53Missing in isoform Ik4. CuratedAdd BLAST44
Alternative sequenceiVSP_00684954 – 283Missing in isoform Ik6. CuratedAdd BLAST230
Alternative sequenceiVSP_00684854 – 140Missing in isoform Ik2. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_006852141 – 283Missing in isoform Ik5. CuratedAdd BLAST143
Alternative sequenceiVSP_006850197 – 283Missing in isoform Ik3 and isoform Ik4. CuratedAdd BLAST87
Alternative sequenceiVSP_006851197 – 238Missing in isoform Ik7 and isoform Ikx. 3 PublicationsAdd BLAST42
Alternative sequenceiVSP_053404260 – 268RSLVLDRLA → ISRAGQTSK in isoform Ikx. 1 Publication9
Alternative sequenceiVSP_053405269 – 519Missing in isoform Ikx. 1 PublicationAdd BLAST251

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40462 mRNA Translation: AAC50459.1
S80876 mRNA Translation: AAB50683.1
AY377974 mRNA Translation: AAR84585.1
AK303586 mRNA Translation: BAG64603.1
BT009836 mRNA Translation: AAP88838.1
AC124014 Genomic DNA No translation available.
AC233268 Genomic DNA No translation available.
CH471128 Genomic DNA Translation: EAW60977.1
CH471128 Genomic DNA Translation: EAW60978.1
CH471128 Genomic DNA Translation: EAW60981.1
CH236955 Genomic DNA Translation: EAL23900.1
CH471128 Genomic DNA Translation: EAW60979.1
BC018349 mRNA Translation: AAH18349.1
CCDSiCCDS59055.1 [Q13422-7]
CCDS69299.1 [Q13422-5]
CCDS75596.1 [Q13422-1]
CCDS75597.1 [Q13422-3]
CCDS78233.1 [Q13422-2]
RefSeqiNP_001207694.1, NM_001220765.2 [Q13422-7]
NP_001207696.1, NM_001220767.2
NP_001207697.1, NM_001220768.2 [Q13422-3]
NP_001207699.1, NM_001220770.2
NP_001207700.1, NM_001220771.2 [Q13422-5]
NP_001278766.1, NM_001291837.1 [Q13422-7]
NP_001278767.1, NM_001291838.1 [Q13422-2]
NP_001278768.1, NM_001291839.1
NP_001278769.1, NM_001291840.1 [Q13422-6]
NP_001278770.1, NM_001291841.1
NP_001278771.1, NM_001291842.1
NP_001278772.1, NM_001291843.1
NP_001278773.1, NM_001291844.1
NP_006051.1, NM_006060.5 [Q13422-1]
XP_011513370.1, XM_011515068.2 [Q13422-1]
XP_011513371.1, XM_011515069.2 [Q13422-1]
XP_011513377.1, XM_011515075.2 [Q13422-2]
XP_011513378.1, XM_011515076.2 [Q13422-2]
XP_016867157.1, XM_017011668.1 [Q13422-2]
UniGeneiHs.435949
Hs.488251
Hs.646004
Hs.731495

Genome annotation databases

EnsembliENST00000331340; ENSP00000331614; ENSG00000185811 [Q13422-1]
ENST00000343574; ENSP00000342750; ENSG00000185811 [Q13422-2]
ENST00000349824; ENSP00000342485; ENSG00000185811 [Q13422-5]
ENST00000357364; ENSP00000349928; ENSG00000185811 [Q13422-3]
ENST00000359197; ENSP00000352123; ENSG00000185811 [Q13422-7]
ENST00000438033; ENSP00000396554; ENSG00000185811 [Q13422-2]
ENST00000439701; ENSP00000413025; ENSG00000185811 [Q13422-7]
ENST00000644005; ENSP00000496453; ENSG00000185811 [Q13422-1]
GeneIDi10320
KEGGihsa:10320
UCSCiuc003tow.5 human [Q13422-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40462 mRNA Translation: AAC50459.1
S80876 mRNA Translation: AAB50683.1
AY377974 mRNA Translation: AAR84585.1
AK303586 mRNA Translation: BAG64603.1
BT009836 mRNA Translation: AAP88838.1
AC124014 Genomic DNA No translation available.
AC233268 Genomic DNA No translation available.
CH471128 Genomic DNA Translation: EAW60977.1
CH471128 Genomic DNA Translation: EAW60978.1
CH471128 Genomic DNA Translation: EAW60981.1
CH236955 Genomic DNA Translation: EAL23900.1
CH471128 Genomic DNA Translation: EAW60979.1
BC018349 mRNA Translation: AAH18349.1
CCDSiCCDS59055.1 [Q13422-7]
CCDS69299.1 [Q13422-5]
CCDS75596.1 [Q13422-1]
CCDS75597.1 [Q13422-3]
CCDS78233.1 [Q13422-2]
RefSeqiNP_001207694.1, NM_001220765.2 [Q13422-7]
NP_001207696.1, NM_001220767.2
NP_001207697.1, NM_001220768.2 [Q13422-3]
NP_001207699.1, NM_001220770.2
NP_001207700.1, NM_001220771.2 [Q13422-5]
NP_001278766.1, NM_001291837.1 [Q13422-7]
NP_001278767.1, NM_001291838.1 [Q13422-2]
NP_001278768.1, NM_001291839.1
NP_001278769.1, NM_001291840.1 [Q13422-6]
NP_001278770.1, NM_001291841.1
NP_001278771.1, NM_001291842.1
NP_001278772.1, NM_001291843.1
NP_001278773.1, NM_001291844.1
NP_006051.1, NM_006060.5 [Q13422-1]
XP_011513370.1, XM_011515068.2 [Q13422-1]
XP_011513371.1, XM_011515069.2 [Q13422-1]
XP_011513377.1, XM_011515075.2 [Q13422-2]
XP_011513378.1, XM_011515076.2 [Q13422-2]
XP_016867157.1, XM_017011668.1 [Q13422-2]
UniGeneiHs.435949
Hs.488251
Hs.646004
Hs.731495

3D structure databases

ProteinModelPortaliQ13422
SMRiQ13422
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115604, 138 interactors
DIPiDIP-41110N
ELMiQ13422
IntActiQ13422, 99 interactors
MINTiQ13422
STRINGi9606.ENSP00000331614

PTM databases

iPTMnetiQ13422
PhosphoSitePlusiQ13422

Polymorphism and mutation databases

BioMutaiIKZF1
DMDMi3913926

Proteomic databases

EPDiQ13422
MaxQBiQ13422
PaxDbiQ13422
PeptideAtlasiQ13422
PRIDEiQ13422
ProteomicsDBi59401
59402 [Q13422-2]
59403 [Q13422-3]
59404 [Q13422-4]
59405 [Q13422-5]
59406 [Q13422-6]
59407 [Q13422-7]

Protocols and materials databases

DNASUi10320
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331340; ENSP00000331614; ENSG00000185811 [Q13422-1]
ENST00000343574; ENSP00000342750; ENSG00000185811 [Q13422-2]
ENST00000349824; ENSP00000342485; ENSG00000185811 [Q13422-5]
ENST00000357364; ENSP00000349928; ENSG00000185811 [Q13422-3]
ENST00000359197; ENSP00000352123; ENSG00000185811 [Q13422-7]
ENST00000438033; ENSP00000396554; ENSG00000185811 [Q13422-2]
ENST00000439701; ENSP00000413025; ENSG00000185811 [Q13422-7]
ENST00000644005; ENSP00000496453; ENSG00000185811 [Q13422-1]
GeneIDi10320
KEGGihsa:10320
UCSCiuc003tow.5 human [Q13422-1]

Organism-specific databases

CTDi10320
DisGeNETi10320
EuPathDBiHostDB:ENSG00000185811.16
GeneCardsiIKZF1
HGNCiHGNC:13176 IKZF1
HPAiCAB009247
HPA035221
HPA035222
MalaCardsiIKZF1
MIMi603023 gene
616873 phenotype
neXtProtiNX_Q13422
OpenTargetsiENSG00000185811
Orphaneti317473 Pancytopenia due to IKZF1 mutations
99860 Precursor B-cell acute lymphoblastic leukemia
36426 Stevens-Johnson syndrome
PharmGKBiPA37748
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00550000074392
HOVERGENiHBG060915
InParanoidiQ13422
KOiK09220
OMAiVCGIICI
OrthoDBiEOG091G05E2
PhylomeDBiQ13422
TreeFamiTF331189

Enzyme and pathway databases

ReactomeiR-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
SignaLinkiQ13422
SIGNORiQ13422

Miscellaneous databases

ChiTaRSiIKZF1 human
GeneWikiiIKZF1
GenomeRNAii10320
PROiPR:Q13422
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185811 Expressed in 184 organ(s), highest expression level in leukocyte
CleanExiHS_IKZF1
ExpressionAtlasiQ13422 baseline and differential
GenevisibleiQ13422 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 3 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 6 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiIKZF1_HUMAN
AccessioniPrimary (citable) accession number: Q13422
Secondary accession number(s): A4D260
, B4E0Z1, D3DVM5, O00598, Q53XL2, Q69BM4, Q8WVA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 182 of the entry and version 1 of the sequence. See 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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