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Protein

DNA-binding protein Ikaros

Gene

IKZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • chromatin modification Source: UniProtKB-KW
  • erythrocyte differentiation Source: UniProtKB
  • lymphocyte differentiation Source: UniProtKB
  • mesoderm development Source: ProtInc
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: GO_Central
  • positive regulation of transcription from RNA polymerase II promoter Source: GO_Central
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Developmental protein, Repressor

Keywords - Biological processi

Cell cycle, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

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

HGNCiHGNC:13176. IKZF1.

Subcellular locationi

Isoform Ik2 :
  • Nucleus

  • Note: In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events (By similarity).By similarity
Isoform Ik6 :

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • nuclear pericentric heterochromatin Source: UniProtKB
  • nucleus Source: UniProtKB
  • protein complex Source: MGI
Complete GO annotation...

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 Publication1
Natural variantiVAR_076402162R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant rs770551610dbSNPEnsembl.1
Natural variantiVAR_076403167H → R in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 Publication1
Natural variantiVAR_076404184R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 Publication1
Natural variantiVAR_076405210Y → C in CVID13; decreases binding to pericentromeric heterochromatin DNA; has diffuse nuclear localization. 2 Publications1

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.
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.

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.
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. Component of the BAF (SWI/SNF) gene activator complex which includes ACTB, ARID1A, ARID1B, IKZF1, ARID1A, ARID1B, SMARCA2, SMARCA4 and at least one BAF subunit. Interacts directly with the SMARCA4 component of the BAF complex (By similarity). 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
CTBP1Q13363-24EBI-11522367,EBI-10171858
CTBP2P565455EBI-745305,EBI-741533
CTBP2Q8IY443EBI-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
GMCL1P1Q8NEA93EBI-745305,EBI-745707
ISCUQ9H1K13EBI-745305,EBI-1047335
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
PSMA4Q7Z4743EBI-745305,EBI-10257551
RAD51DO757714EBI-745305,EBI-1055693
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
WTAPQ150073EBI-745305,EBI-751647
ZMAT2Q96NC03EBI-745305,EBI-2682299
ZNF417Q8TAU33EBI-745305,EBI-740727
ZNF581Q9P0T43EBI-745305,EBI-745520

Protein-protein interaction databases

BioGridi115604. 119 interactors.
DIPiDIP-41110N.
IntActiQ13422. 92 interactors.
MINTiMINT-129252.
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

Contains 6 C2H2-type zinc fingers.PROSITE-ProRule annotation

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.
HOVERGENiHBG004752.
InParanoidiQ13422.
KOiK09220.
OMAiGDKCLSD.
OrthoDBiEOG091G05E2.
PhylomeDBiQ13422.
TreeFamiTF331189.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 6 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

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

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

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 Publication1
Natural variantiVAR_076402162R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 PublicationCorresponds to variant rs770551610dbSNPEnsembl.1
Natural variantiVAR_076403167H → R in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 Publication1
Natural variantiVAR_076404184R → Q in CVID13; abolishes binding to DNA; has diffuse nuclear localization. 1 Publication1
Natural variantiVAR_076405210Y → C in CVID13; decreases binding to pericentromeric heterochromatin DNA; has diffuse nuclear localization. 2 Publications1

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]
GeneIDi10320.
KEGGihsa:10320.
UCSCiuc003tow.5. human. [Q13422-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

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. 119 interactors.
DIPiDIP-41110N.
IntActiQ13422. 92 interactors.
MINTiMINT-129252.
STRINGi9606.ENSP00000331614.

PTM databases

iPTMnetiQ13422.
PhosphoSitePlusiQ13422.

Polymorphism and mutation databases

BioMutaiIKZF1.
DMDMi3913926.

Proteomic databases

EPDiQ13422.
MaxQBiQ13422.
PaxDbiQ13422.
PeptideAtlasiQ13422.
PRIDEiQ13422.

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]
GeneIDi10320.
KEGGihsa:10320.
UCSCiuc003tow.5. human. [Q13422-1]

Organism-specific databases

CTDi10320.
DisGeNETi10320.
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.
PharmGKBiPA37748.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00550000074392.
HOVERGENiHBG004752.
InParanoidiQ13422.
KOiK09220.
OMAiGDKCLSD.
OrthoDBiEOG091G05E2.
PhylomeDBiQ13422.
TreeFamiTF331189.

Enzyme and pathway databases

SignaLinkiQ13422.
SIGNORiQ13422.

Miscellaneous databases

ChiTaRSiIKZF1. human.
GeneWikiiIKZF1.
GenomeRNAii10320.
PROiQ13422.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185811.
CleanExiHS_IKZF1.
ExpressionAtlasiQ13422. baseline and differential.
GenevisibleiQ13422. HS.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 6 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIKZF1_HUMAN
AccessioniPrimary (citable) accession number: Q13422
Secondary accession number(s): A4D260
, B4E0Z1, D3DVM5, O00598, Q53XL2, Q69BM4, Q8WVA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 162 of the entry and version 1 of the sequence. [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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.