Q9H2S9 (IKZF4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein Eos

Alternative name(s):
Ikaros family zinc finger protein 4

Gene names

Name:	IKZF4
Synonyms:	KIAA1782, ZNFN1A4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	585 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	DNA-binding protein that binds to the 5'GGGAATRCC-3' Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Ref.3 Ref.4 Ref.5
Subunit structure	Self-associates. Interacts with other family members; IKZF1, IKZF2, IKZF3 AND IKZF5. Interacts with CTBP2, SPI1 and MITF By similarity. Ref.3 Ref.5
Subcellular location	Nucleus Ref.5.
Tissue specificity	Highly expressed in skeletal muscle, low levels of expression in heart, thymus, kidney, liver, and spleen. Expressed in the hematopoietic cell lines MOLT-4, NALM-6 and K-562. Highly expressed in THP-1 and M-07e cell lines, which have characteristics of myeloid and early megakaryocytic cells respectively. Ref.3
Domain	The N-terminal zinc fingers are involved in sequence-specific DNA binding and heterotypic associations with other family members. C-terminal zinc fingers mediate homodimerization.
Miscellaneous	'Eos' means 'rising sun' in Greek.
Sequence similarities	Belongs to the Ikaros C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers.
Sequence caution	The sequence AAG39221.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB47411.1 differs from that shown. Reason: Erroneous initiation.

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	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of transcription, DNA-dependent Traceable author statement Ref.3. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Traceable author statement Ref.3. Source: UniProtKB
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Traceable author statement Ref.3. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H2S9-1)

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 2 (identifier: Q9H2S9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: MHTPPALPRR...FIMESLFCES → MDSRYLQLQLYLPSCSLLQG

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 585	585	Zinc finger protein Eos		PRO_0000299468
Regions
	Zinc finger	159 – 181	23	C2H2-type 1
	Zinc finger	187 – 209	23	C2H2-type 2
	Zinc finger	215 – 237	23	C2H2-type 3
	Zinc finger	248 – 271	24	C2H2-type 4
	Zinc finger	530 – 552	23	C2H2-type 5
	Zinc finger	558 – 582	25	C2H2-type 6
	Motif	425 – 429	5	CTBP-binding motif PEDLA
Natural variations
	Alternative sequence	1 – 61	61	MHTPP…LFCES → MDSRYLQLQLYLPSCSLLQG in isoform 2.		VSP_027688
Experimental info
	Mutagenesis	425 – 427	3	PED → AAA: No effect on CTBP2 interaction. Ref.5
	Sequence conflict	145	1	E → K in AAG39221. Ref.3
	Sequence conflict	310	1	P → A in AAG39221. Ref.3
	Sequence conflict	361	1	A → G in AAG39221. Ref.3
	Sequence conflict	390	1	N → H in AAG39221. Ref.3
	Sequence conflict	524	1	G → S in AAG39221. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 11, 2007. Version 2. Checksum: 42AE169A3E2E14D3	FASTA	585	64,106
	10 20 30 40 50 60 MHTPPALPRR FQGGGRVRTP GSHRQGKDNL ERDPSGGCVP DFLPQAQDSN HFIMESLFCE 70 80 90 100 110 120 SSGDSSLEKE FLGAPVGPSV STPNSQHSSP SRSLSANSIK VEMYSDEESS RLLGPDERLL 130 140 150 160 170 180 EKDDSVIVED SLSEPLGYCD GSGPEPHSPG GIRLPNGKLK CDVCGMVCIG PNVLMVHKRS 190 200 210 220 230 240 HTGERPFHCN QCGASFTQKG NLLRHIKLHS GEKPFKCPFC NYACRRRDAL TGHLRTHSVS 250 260 270 280 290 300 SPTVGKPYKC NYCGRSYKQQ STLEEHKERC HNYLQSLSTE AQALAGQPGD EIRDLEMVPD 310 320 330 340 350 360 SMLHSSSERP TFIDRLANSL TKRKRSTPQK FVGEKQMRFS LSDLPYDVNS GGYEKDVELV 370 380 390 400 410 420 AHHSLEPGFG SSLAFVGAEH LRPLRLPPTN CISELTPVIS SVYTQMQPLP GRLELPGSRE 430 440 450 460 470 480 AGEGPEDLAD GGPLLYRPRG PLTDPGASPS NGCQDSTDTE SNHEDRVAGV VSLPQGPPPQ 490 500 510 520 530 540 PPPTIVVGRH SPAYAKEDPK PQEGLLRGTP GPSKEVLRVV GESGEPVKAF KCEHCRILFL 550 560 570 580 DHVMFTIHMG CHGFRDPFEC NICGYHSQDR YEFSSHIVRG EHKVG
	Isoform 2 [UniParc]. Checksum: 68743F2C2449BD84	FASTA	544	59,671
	10 20 30 40 50 60 MDSRYLQLQL YLPSCSLLQG SGDSSLEKEF LGAPVGPSVS TPNSQHSSPS RSLSANSIKV 70 80 90 100 110 120 EMYSDEESSR LLGPDERLLE KDDSVIVEDS LSEPLGYCDG SGPEPHSPGG IRLPNGKLKC 130 140 150 160 170 180 DVCGMVCIGP NVLMVHKRSH TGERPFHCNQ CGASFTQKGN LLRHIKLHSG EKPFKCPFCN 190 200 210 220 230 240 YACRRRDALT GHLRTHSVSS PTVGKPYKCN YCGRSYKQQS TLEEHKERCH NYLQSLSTEA 250 260 270 280 290 300 QALAGQPGDE IRDLEMVPDS MLHSSSERPT FIDRLANSLT KRKRSTPQKF VGEKQMRFSL 310 320 330 340 350 360 SDLPYDVNSG GYEKDVELVA HHSLEPGFGS SLAFVGAEHL RPLRLPPTNC ISELTPVISS 370 380 390 400 410 420 VYTQMQPLPG RLELPGSREA GEGPEDLADG GPLLYRPRGP LTDPGASPSN GCQDSTDTES 430 440 450 460 470 480 NHEDRVAGVV SLPQGPPPQP PPTIVVGRHS PAYAKEDPKP QEGLLRGTPG PSKEVLRVVG 490 500 510 520 530 540 ESGEPVKAFK CEHCRILFLD HVMFTIHMGC HGFRDPFECN ICGYHSQDRY EFSSHIVRGE HKVG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 53-585 (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH IKZF1; IKZF2; IKZF3 AND IKZF5.
[4]	"A molecular dissection of the repression circuitry of Ikaros." Koipally J., Georgopoulos K. J. Biol. Chem. 277:27697-27705(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[5]	"The Ikaros family protein Eos associates with C-terminal-binding protein corepressors." Perdomo J., Crossley M. Eur. J. Biochem. 269:5885-5892(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CTBP2, SUBCELLULAR LOCATION, MUTAGENESIS OF 425-PRO--ASP-427.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB058685 mRNA. Translation: BAB47411.1. Different initiation. BX647761 mRNA. No translation available. AF230809 mRNA. Translation: AAG39221.1. Different initiation.
IPI	IPI00064241. IPI00797730.
RefSeq	NP_071910.3. NM_022465.3.
UniGene	Hs.553221.
3D structure databases
HSSP	HSSP built from PDB template 2CT1 based on UniProtKB P49711.
ProteinModelPortal	Q9H2S9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H2S9. 2 interactions.
STRING	9606.ENSP00000262032.
PTM databases
PhosphoSite	Q9H2S9.
Polymorphism databases
DMDM	158564025.
Proteomic databases
PaxDb	Q9H2S9.
PRIDE	Q9H2S9.
Protocols and materials databases
DNASU	64375.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262032; ENSP00000262032; ENSG00000123411. ENST00000547167; ENSP00000448419; ENSG00000123411.
GeneID	64375.
KEGG	hsa:64375.
UCSC	uc001sjb.1. human. uc001sje.1. human.
Organism-specific databases
CTD	64375.
GeneCards	GC12P056414.
HGNC	HGNC:13179. IKZF4.
HPA	HPA049016.
MIM	606239. gene.
neXtProt	NX_Q9H2S9.
PharmGKB	PA162391948.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG326936.
HOGENOM	HOG000049114.
HOVERGEN	HBG004752.
InParanoid	Q9H2S9.
KO	K09220.
OMA	PTSCISE.
OrthoDB	EOG4JHCFM.
Gene expression databases
ArrayExpress	Q9H2S9.
Bgee	Q9H2S9.
CleanEx	HS_IKZF4.
Genevestigator	Q9H2S9.
Family and domain databases
Gene3D	3.30.160.60. 4 hits.
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00096. zf-C2H2. 1 hit. [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
GenomeRNAi	64375.
NextBio	66301.
SOURCE	Search...

Entry information

Entry name

IKZF4_HUMAN

Accession

Primary (citable) accession number: Q9H2S9
Secondary accession number(s): Q96JP3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	September 11, 2007
Last modified:	May 1, 2013
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.