ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:IKZF1

Protein Summary

Gene summary

Gene name: IKZF1
ASpdb.0 ID: 10320
	Gene
Gene symbol	IKZF1
Gene ID	10320
Gene name	IKAROS family zinc finger 1
Synonyms	CVID13\|Hs.54452\|IK1\|IKAROS\|LYF1\|LyF-1\|PPP1R92\|PRO0758\|ZNFN1A1
Cytomap	7p12.2
Type of gene	protein-coding
Description	DNA-binding protein IkarosCLL-associated antigen KW-6ikaros family zinc finger protein 1lymphoid transcription factor LyF-1protein phosphatase 1, regulatory subunit 92zinc finger protein, subfamily 1A, 1 (Ikaros)
Modification date	20240416
UniProtAcc	Q13422

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	IKZF1	GO:0003677	DNA binding	21548011\|22106042
Gene	IKZF1	GO:0005634	nucleus	21548011\|22106042
Gene	IKZF1	GO:0005654	nucleoplasm	-
Gene	IKZF1	GO:0005721	pericentric heterochromatin	21548011
Gene	IKZF1	GO:0005829	cytosol	-
Gene	IKZF1	GO:0032991	protein-containing complex	23071339

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
Q13422-1	Q13422-1_6h0f_C.pdb	6H0F	X-ray	3.25	C	141	169

ASpdb's canonical and alternatively spliced isoform information.

accession_id	gene_name	canonical_id	alternative_id	canonical_length	alternative_length	canonical_start	canonical_end	type	originalSEQ	variationSEQ	alternative_start	alternative_end
Q13422	IKZF1	Q13422-1	Q13422-2	519	432	54	140	Deletion	none	none	53	53
Q13422	IKZF1	Q13422-1	Q13422-3	519	432	197	283	Deletion	none	none	196	196
Q13422	IKZF1	Q13422-1	Q13422-4	519	388	10	53	Deletion	none	none	9	9
Q13422	IKZF1	Q13422-1	Q13422-4	519	388	197	283	Deletion	none	none	152	152
Q13422	IKZF1	Q13422-1	Q13422-5	519	376	141	283	Deletion	none	none	140	140
Q13422	IKZF1	Q13422-1	Q13422-6	519	289	54	283	Deletion	none	none	53	53
Q13422	IKZF1	Q13422-1	Q13422-7	519	477	197	238	Deletion	none	none	196	196
Q13422	IKZF1	Q13422-1	Q13422-8	519	226	197	238	Deletion	none	none	196	196
Q13422	IKZF1	Q13422-1	Q13422-8	519	226	260	268	Substitution	RSLVLDRLA	ISRAGQTSK	218	226
Q13422	IKZF1	Q13422-1	Q13422-8	519	226	269	519	Deletion	none	none	226	226

Multiple sequence alignment of our canonical and alternatively spliced IKZF1

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of IKZF1

UniProt-id	ENSG	ENST	ENSP
Q13422-1	ENSG00000185811.21	ENST00000331340.8	ENSP00000331614.3
Q13422-2	ENSG00000185811.21	ENST00000438033.5	ENSP00000396554.1
Q13422-5	ENSG00000185811.21	ENST00000698575.1	ENSP00000513806.1
Q13422-7	ENSG00000185811.21	ENST00000359197.9	ENSP00000352123.5
Q13422-7	ENSG00000185811.21	ENST00000439701.2	ENSP00000413025.1

UniProt-id	NM ID	NP ID
Q13422-1	NM_006060.5	NP_006051.1
Q13422-2	NM_001291838.1	NP_001278767.1
Q13422-2	XM_017011668.1	XP_016867157.1
Q13422-3	NM_001220768.2	NP_001207697.1
Q13422-5	NM_001220771.2	NP_001207700.1
Q13422-6	NM_001291840.1	NP_001278769.1
Q13422-7	NM_001220765.2	NP_001207694.1
Q13422-7	NM_001291837.1	NP_001278766.1

Amino acid sequences of our canonical and alternatively spliced IKZF1

accession_id	Protein sequence
Q13422-1	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVETQSDEENGRACEMNGEECAEDLRMLDASGE KMNGSHRDQGSSALSGVGGIRLPNGKLKCDICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY ACRRRDALTGHLRTHSVGKPHKCGYCGRSYKQRSSLEEHKERCHNYLESMGLPGTLYPVIKEETNHSEMAEDLCKIGSERSLVLDRLASN VAKRKSSMPQKFLGDKGLSDTPYDSSASYEKENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPR SNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAPHARNGLSLKEEHRAYDLLRAASENSQDALR
Q13422-2	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHL CNYACRRRDALTGHLRTHSVGKPHKCGYCGRSYKQRSSLEEHKERCHNYLESMGLPGTLYPVIKEETNHSEMAEDLCKIGSERSLVLDRL ASNVAKRKSSMPQKFLGDKGLSDTPYDSSASYEKENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEG TPRSNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAPHARNGLSLKEEHRAYDLLRAASENSQD
Q13422-3	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVETQSDEENGRACEMNGEECAEDLRMLDASGE KMNGSHRDQGSSALSGVGGIRLPNGKLKCDICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY ACRRRDALTGHLRTHSGDKGLSDTPYDSSASYEKENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEG TPRSNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAPHARNGLSLKEEHRAYDLLRAASENSQD
Q13422-4	MDADEGQDMASNVKVETQSDEENGRACEMNGEECAEDLRMLDASGEKMNGSHRDQGSSALSGVGGIRLPNGKLKCDICGIICIGPNVLMV HKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNYACRRRDALTGHLRTHSGDKGLSDTPYDSSASYEKENEMMKSHVM DQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPRSNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTE SNNEEQRSGLIYLTNHIAPHARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIHMGCHGFRDPFE
Q13422-5	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVETQSDEENGRACEMNGEECAEDLRMLDASGE KMNGSHRDQGSSALSGVGGIRLPNGKLKCDICGIICIGPNVLMVHKRSHTGDKGLSDTPYDSSASYEKENEMMKSHVMDQAINNAINYLG AESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPRSNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIY LTNHIAPHARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIHMGCHGFRDPFECNMCGYHSQDRY
Q13422-6	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVGDKGLSDTPYDSSASYEKENEMMKSHVMDQAINNAIN YLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPRSNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSG LIYLTNHIAPHARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIHMGCHGFRDPFECNMCGYHSQ
Q13422-7	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVETQSDEENGRACEMNGEECAEDLRMLDASGE KMNGSHRDQGSSALSGVGGIRLPNGKLKCDICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY ACRRRDALTGHLRTHSVIKEETNHSEMAEDLCKIGSERSLVLDRLASNVAKRKSSMPQKFLGDKGLSDTPYDSSASYEKENEMMKSHVMD QAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPRSNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTES NNEEQRSGLIYLTNHIAPHARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIHMGCHGFRDPFEC
Q13422-8	MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVETQSDEENGRACEMNGEECAEDLRMLDASGE KMNGSHRDQGSSALSGVGGIRLPNGKLKCDICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY

Protein Functional Features

Main function of this protein. (from UniProt)

IKZF1 (go to UniProt):Q13422

Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Accession_id	Subsection	Start	End	Funcitonal feature	Splicing information
Q13422	Zinc finger	117	139	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=54;End=140
Q13422	Zinc finger	117	139	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=54;End=283
Q13422	Zinc finger	145	167	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=141;End=283
Q13422	Zinc finger	145	167	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=54;End=283
Q13422	Zinc finger	173	195	Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=141;End=283
Q13422	Zinc finger	173	195	Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=54;End=283
Q13422	Zinc finger	201	224	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=197;End=283
Q13422	Zinc finger	201	224	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=197;End=283
Q13422	Zinc finger	201	224	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=141;End=283
Q13422	Zinc finger	201	224	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=54;End=283
Q13422	Zinc finger	201	224	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=197;End=238
Q13422	Zinc finger	201	224	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=197;End=238
Q13422	Zinc finger	462	484	Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=269;End=519
Q13422	Zinc finger	490	514	Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042	Type=Deletion;Start=269;End=519
Q13422	Region	1	72	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=54;End=140
Q13422	Region	1	72	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=10;End=53
Q13422	Region	1	72	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=54;End=283
Q13422	Region	154	163	Note=Required for both high-affinity DNA binding and pericentromeric heterochromatin localization;Ontology_term=ECO:0000250;evidence=ECO:0000250	Type=Deletion;Start=141;End=283
Q13422	Region	154	163	Note=Required for both high-affinity DNA binding and pericentromeric heterochromatin localization;Ontology_term=ECO:0000250;evidence=ECO:0000250	Type=Deletion;Start=54;End=283
Q13422	Region	180	195	Note=Required for both high-affinity DNA binding and pericentromeric heterochromatin localization;Ontology_term=ECO:0000250;evidence=ECO:0000250	Type=Deletion;Start=141;End=283
Q13422	Region	180	195	Note=Required for both high-affinity DNA binding and pericentromeric heterochromatin localization;Ontology_term=ECO:0000250;evidence=ECO:0000250	Type=Deletion;Start=54;End=283
Q13422	Region	381	406	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=269;End=519
Q13422	Region	468	471	Note=Required for binding PP1CC;Ontology_term=ECO:0000250;evidence=ECO:0000250	Type=Deletion;Start=269;End=519
Q13422	Compositional bias	37	61	Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=54;End=140
Q13422	Compositional bias	37	61	Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=10;End=53
Q13422	Compositional bias	37	61	Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=54;End=283
Q13422	Compositional bias	386	406	Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=269;End=519

Gene Isoform Structures and Expression Levels for IKZF1

Gene structures of our canonical and alternative spliced genes of IKZF1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

3D view using mol* of Q13422-1

3D view using mol* of Q13422-2

3D view using mol* of Q13422-3

3D view using mol* of Q13422-4

3D view using mol* of Q13422-5

3D view using mol* of Q13422-6

3D view using mol* of Q13422-7

3D view using mol* of Q13422-8

pLDDT Score Distribution

pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

pLDDT distribution across the protein length of Q13422-1

pLDDT distribution across the protein length of Q13422-2

pLDDT distribution across the protein length of Q13422-3

pLDDT distribution across the protein length of Q13422-4

pLDDT distribution across the protein length of Q13422-5

pLDDT distribution across the protein length of Q13422-6

pLDDT distribution across the protein length of Q13422-7

pLDDT distribution across the protein length of Q13422-8

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of Q13422-1

Ramachandran plot of Q13422-3

Ramachandran plot of Q13422-4

Ramachandran plot of Q13422-6

Ramachandran plot of Q13422-7

Ramachandran plot of Q13422-8

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
Q13422-1	0.988	266	0.919	902.09	0.556	0.679	0.91	0.249	1.316	0.189	0.396	141,142,143,152,153,154,155,156,159,162,163,165,16 6,171,180,181,182,183,184,187,190,191,193,194,199, 206,208,209,210,211,212,215,218,219,222,223,390,39 2,394,395,396,397,398,399,400,401,402,403,404,405, 406,407
Q13422-2	1.052	314	1.103	975.149	0.555	0.707	0.93	1.134	0.801	1.416	0.913	118,119,135,136,137,139,140,141,145,146,147,149,15 0,153,159,162,163,166,167,169,170,173,174,235,236, 237,238,239,241,243,325,326,327,328,329,330,331,33 2,334,335,336,337,338,339,344,345,347,348,351,362, 364,374,380,381,382,383,384,385,386,389,392,393,39 6
Q13422-3	0.781	56	0.755	184.534	0.684	0.64	0.842	0.254	1.019	0.249	1.269	81,82,83,84,158,161,162,164,165,166,168,170,172,17 3,183,184,185,186
Q13422-4	0.934	78	0.982	372.498	0.707	0.623	0.801	0.84	0.681	1.234	0.654	215,216,217,218,219,220,318,319,320,321,330,332,33 6,337,338,339,340,341,371,372,375,376,380
Q13422-5	0.989	278	1.02	781.011	0.588	0.663	0.838	0.522	0.973	0.536	0.771	128,129,130,131,133,134,137,292,295,296,299,300,30 2,303,304,306,317,318,319,320,321,322,323,326,328, 331,332,333,334,335,336,337,338,339,340,341,342,34 3,344,345,348,350,351,363,366,367,373
Q13422-6	0.988	111	0.999	310.415	0.605	0.68	0.857	0.522	1.069	0.489	0.51	205,208,209,212,213,215,216,217,218,219,220,221,22 8,229,230,231,232,233,235,244,247,248,251
Q13422-7	0.998	254	1.04	836.577	0.623	0.653	0.816	0.622	0.896	0.694	0.806	268,269,272,273,276,277,280,285,386,387,388,389,39 0,393,396,397,400,401,403,404,405,406,407,408,409, 416,417,418,419,420,421,422,423,424,426,428,432,43 3,435,436,437,439,440,441,442,443,444,447,451
Q13422-8	1	195	1.007	592.018	0.545	0.698	0.935	0.482	1.079	0.447	0.771	64,66,67,68,69,70,71,72,73,74,75,76,124,125,126,12 7,130,131,134,135,138,143,154,155,156,158,159,162, 163,165,166,171,180,181,182,183,184,187

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of Q13422-1_Q13422-1_6h0f_C.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q13422-1_6h0f_C_Q13422-2.pdb

3D view using mol* of Q13422-1_6h0f_C_Q13422-3.pdb

3D view using mol* of Q13422-1_6h0f_C_Q13422-4.pdb

3D view using mol* of Q13422-1_6h0f_C_Q13422-5.pdb

3D view using mol* of Q13422-1_6h0f_C_Q13422-6.pdb

3D view using mol* of Q13422-1_6h0f_C_Q13422-7.pdb

3D view using mol* of Q13422-1_6h0f_C_Q13422-8.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q13422-1_Q13422-2.pdb

3D view using mol* of Q13422-1_Q13422-3.pdb

3D view using mol* of Q13422-1_Q13422-4.pdb

3D view using mol* of Q13422-1_Q13422-5.pdb

3D view using mol* of Q13422-1_Q13422-6.pdb

3D view using mol* of Q13422-1_Q13422-7.pdb

3D view using mol* of Q13422-1_Q13422-8.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-2.png

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-3.png

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-4.png

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-5.png

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-6.png

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-7.png

./stats/secondary_structure/figure/Q13422-1_vs_Q13422-8.png

Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.

./stats/relative_asa/Q13422-1_vs_Q13422-2.png

./stats/relative_asa/Q13422-1_vs_Q13422-3.png

./stats/relative_asa/Q13422-1_vs_Q13422-4.png

./stats/relative_asa/Q13422-1_vs_Q13422-5.png

./stats/relative_asa/Q13422-1_vs_Q13422-6.png

./stats/relative_asa/Q13422-1_vs_Q13422-7.png

./stats/relative_asa/Q13422-1_vs_Q13422-8.png

Protein-Protein Interaction

Interactors from UniProt.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Interactors from STRING.

Gene name

Interactors

Related Drugs to IKZF1

Drugs targeting this gene/protein.
(DrugBank)

UniProt accession

Gene name

DrugBank ID

Drug name

Drug group

Actions

Related Diseases to IKZF1

Previous studies relating to the alternative splicing of IKZF1 and disease information from the MeSH term (PubMed)

Gene	PMID	Title	Abstract	MeSH ID	MeSH term
IKZF1	10577847	Expression of aberrantly spliced oncogenic ikaros isoforms in childhood acute lymphoblastic leukemia.	We sought to determine if molecular abnormalities involving the Ikaros gene could contribute to the development of acute lymphoblastic leukemia (ALL) in children.	D054198	Precursor Cell Lymphoblastic Leukemia-Lymphoma
IKZF1	17476278	Acetylcholinesterase/C terminal binding protein interactions modify Ikaros functions, causing T lymphopenia.	Hematological changes induced by various stress stimuli are accompanied by replacement of the primary acetylcholinesterase (AChE) 3' splice variant acetylcholinesterase-S (AChE-S) with the myelopoietic acetylcholinesterase-R (AChE-R) variant. To search for putative acetylcholinesterase-S interactions with hematopoietic pathways, we employed a yeast two-hybrid screen. The transcriptional co-repressor C-terminal binding protein (CtBP) was identified as a protein partner of the AChE-S C terminus. In erythroleukemic K562 cells, AChE-S displayed nuclear colocalization and physical interaction with CtBP. Furthermore, co-transfected AChE-S reduced the co-repressive effect of CtBP over the hematopoietic transcription factor, Ikaros. In transgenic mice, overexpressed human (h) AChE-S mRNA induced selective bone marrow upregulation of Ikaros while suppressing FOG, another transcriptional partner of CtBP. Transgenic bone marrow cells showed a correspondingly elevated potential for producing progenitor colonies, compared with controls, while peripheral blood showed increased erythrocyte counts as opposed to reduced platelets, granulocytes and T lymphocytes. AChE's 3' alternative splicing, and the corresponding changes in AChE-S/CtBP interactions, thus emerge as being actively involved in controlling hematopoiesis and the potential for modulating immune functions, supporting reports on malfunctioning immune reactions under impaired splice site selection.	D008231	Lymphopenia

Clinically important variants in IKZF1

(ClinVar, 04/20/2024)

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