Reviewed,
UniProtKB/Swiss-Prot Q13422 (IKZF1_HUMAN)
Last modified
November 25, 2008.
Version 77.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: DNA-binding protein Ikaros Alternative name(s): Ikaros family zinc finger protein 1 Lymphoid transcription factor LyF-1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 519 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Functions in the specification and the maturation of the T-lymphocyte. Also interacts with a critical control element in the TDT (terminal deoxynucleotidyltransferase) promoter as well as with the promoters for other genes expressed during early stages of B- and T-cell development. |
| Subunit structure | Interacts with IKZF4 AND IKZF5. |
| Subcellular location | |
| Tissue specificity | Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine. |
| Sequence similarities | Belongs to the Ikaros C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing |
| Domain | Repeat Zinc-finger |
| Ligand | DNA-binding Metal-binding Zinc |
| Molecular function | Activator |
Gene Ontology (GO) | |
| Biological process | mesoderm development Ref.2 Traceable author statement. Source: ProtInc |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | zinc ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Ik1 (identifier: Q13422-1) 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. | ||||||
| Isoform Ik2 (identifier: Q13422-2) The sequence of this isoform differs from the canonical sequence as follows: 54-140: Missing. | ||||||
| Isoform Ik3 (identifier: Q13422-3) The sequence of this isoform differs from the canonical sequence as follows: 197-283: Missing. | ||||||
| Isoform Ik4 (identifier: Q13422-4) The sequence of this isoform differs from the canonical sequence as follows: 10-53: Missing. 197-283: Missing. | ||||||
| Isoform Ik5 (identifier: Q13422-5) The sequence of this isoform differs from the canonical sequence as follows: 141-283: Missing. | ||||||
| Isoform Ik6 (identifier: Q13422-6) The sequence of this isoform differs from the canonical sequence as follows: 54-283: Missing. | ||||||
| Isoform Ik7 (identifier: Q13422-7) The sequence of this isoform differs from the canonical sequence as follows: 197-238: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 519 | 519 | DNA-binding protein Ikaros | PRO_0000047094 | |||||
Regions | |||||||||
| Zinc finger | 117 – 139 | 23 | C2H2-type 1 | ||||||
| Zinc finger | 145 – 167 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 173 – 195 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 201 – 224 | 24 | C2H2-type 4 | ||||||
| Zinc finger | 462 – 484 | 23 | C2H2-type 5 | ||||||
| Zinc finger | 490 – 514 | 25 | C2H2-type 6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 10 – 53 | 44 | Missing in isoform Ik4. | VSP_006847 | |||||
| Alternative sequence | 54 – 283 | 230 | Missing in isoform Ik6. | VSP_006849 | |||||
| Alternative sequence | 54 – 140 | 87 | Missing in isoform Ik2. | VSP_006848 | |||||
| Alternative sequence | 141 – 283 | 143 | Missing in isoform Ik5. | VSP_006852 | |||||
| Alternative sequence | 197 – 283 | 87 | Missing in isoform Ik3 and isoform Ik4. | VSP_006850 | |||||
| Alternative sequence | 197 – 238 | 42 | Missing in isoform Ik7. | VSP_006851 | |||||
Experimental info | |||||||||
| Sequence conflict | 11 – 12 | 2 | QV → FS in AAB50683. Ref.2 | ||||||
| Sequence conflict | 214 | 1 | S → T in AAB50683. Ref.2 | ||||||
| Sequence conflict | 245 | 1 | N → K in AAB50683. Ref.2 | ||||||
| Sequence conflict | 296 | 1 | Missing in AAB50683. Ref.2 | ||||||
| Sequence conflict | 298 | 1 | S → T in AAB50683. Ref.2 | ||||||
| Sequence conflict | 352 – 355 | 4 | KPLA → RRS in AAB50683. Ref.2 | ||||||
| Sequence conflict | 372 | 1 | N → Y in AAB50683. Ref.2 | ||||||
| Sequence conflict | 420 – 426 | 7 | PHARNGL → RRAQRV in AAB50683. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and sequencing of hIk-1, a cDNA encoding a human homologue of mouse Ikaros/LyF-1." Nietfeld W., Meyerhans A. Immunol. Lett. 49:139-141(1996) [PubMed: 8964602] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING. Tissue: Bone marrow. |
| [2] | "The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse." Molnar A., Wu P., Largespada D.A., Vortkamp A., Scherer S., Copeland N.G., Jenkins N.A., Bruns G., Georgopoulos K. J. Immunol. 156:585-592(1996) [PubMed: 8543809] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM IK7). Tissue: Lymph. |
| [4] | "Eos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activities." Perdomo J., Holmes M., Chong B., Crossley M. J. Biol. Chem. 275:38347-38354(2000) [PubMed: 10978333] [Abstract] Cited for: INTERACTION WITH IKZF4 AND IKZF5. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U40462 mRNA. Translation: AAC50459.1. S80876 mRNA. Translation: AAB50683.1. BC018349 mRNA. Translation: AAH18349.1. | |
| RefSeq | NP_006051.1. |
| UniGene | Hs.435949 Hs.488251 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1BBO based on UniProtKB P15822. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13422. |
PTM databases | |
| PhosphoSite | Q13422. |
Genome annotation databases | |
| Ensembl | ENSG00000185811. Homo sapiens. [Contig view] |
| GeneID | 10320. |
| KEGG | hsa:10320. |
Organism-specific databases | |
| H-InvDB | HIX0021369. HIX0044884. |
| HGNC | HGNC:13176. IKZF1. |
| HPA | CAB009247. |
| MIM | 603023. gene. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q13422. |
| HOVERGEN | Q13422. |
Gene expression databases | |
| ArrayExpress | Q13422. |
| CleanEx | HS_IKZF1. |
| GermOnline | ENSG00000185811. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] |
| Gene3D | G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 1 hit. |
| Pfam | PF00096. zf-C2H2. 3 hits. [Graphical view] |
| SMART | SM00355. ZnF_C2H2. 6 hits. [Graphical view] |
| PROSITE | PS00028. ZINC_FINGER_C2H2_1. 5 hits. PS50157. ZINC_FINGER_C2H2_2. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 39123. |
| SOURCE | Search... |
Entry information
| Entry name | IKZF1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13422 Secondary accession number(s): O00598, Q8WVA3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


