O43167 (ZBT24_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger and BTB domain-containing protein 24

Alternative name(s):
Zinc finger protein 450

Gene names

Name:	ZBTB24
Synonyms:	KIAA0441, ZNF450

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	697 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in BMP2-induced transcription By similarity.
Subcellular location	Nucleus Potential.
Tissue specificity	Widely expressed, with highest levels in naive B-cells. Ref.5
Developmental stage	Regulated expression during B-cell differentiation. Low expression in pro-B cells, pre-B I cells and large pre-B II cells. Levels peak in small pre-B II and then slightly decrease in immature B-cells. Low levels in CD34+ umbilical cord blood cells. Ref.5
Involvement in disease	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) [MIM:614069]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 A.T hook DNA-binding domain. Contains 1 BTB (POZ) domain. Contains 8 C2H2-type zinc fingers.
Sequence caution	The sequence BAA23713.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MDFI	Q99750	3	EBI-744471,EBI-724076

Alternative products

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

Isoform 1 (identifier: O43167-1)

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: O43167-2)

The sequence of this isoform differs from the canonical sequence as follows:
     319-333: ERPFKCNECGKGFAQ → NDVFKADCSVLQNWE
     334-697: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 697	697	Zinc finger and BTB domain-containing protein 24		PRO_0000047734
Regions
	Domain	10 – 133	124	BTB
	DNA binding	159 – 171	13	A.T hook
	Zinc finger	294 – 316	23	C2H2-type 1
	Zinc finger	322 – 344	23	C2H2-type 2
	Zinc finger	350 – 372	23	C2H2-type 3
	Zinc finger	378 – 400	23	C2H2-type 4
	Zinc finger	406 – 428	23	C2H2-type 5
	Zinc finger	434 – 456	23	C2H2-type 6
	Zinc finger	462 – 484	23	C2H2-type 7
	Zinc finger	490 – 512	23	C2H2-type 8
Natural variations
	Alternative sequence	319 – 333	15	ERPFK…KGFAQ → NDVFKADCSVLQNWE in isoform 2.		VSP_016221
	Alternative sequence	334 – 697	364	Missing in isoform 2.		VSP_016222
	Natural variant	408	1	C → G in ICF2. Ref.5		VAR_065846
	Natural variant	518	1	A → T. Corresponds to variant rs2232448 [ dbSNP | Ensembl ].		VAR_057458
Experimental info
	Sequence conflict	151	1	S → P in BAA23713. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 24, 2005. Version 2. Checksum: F2BD331E748CB494	FASTA	697	78,282
	10 20 30 40 50 60 MAETSPEPSG QLVVHSDAHS DTVLASFEDQ RKKGFLCDIT LIVENVHFRA HKALLAASSE 70 80 90 100 110 120 YFSMMFAEEG EIGQSIYMLE GMVADTFGIL LEFIYTGYLH ASEKSTEQIL ATAQFLKVYD 130 140 150 160 170 180 LVKAYTDFQN NHSSPKPTTL NTAGAPVVVI SNKKNDPPKR KRGRPKKVNT LQEEKSELAA 190 200 210 220 230 240 EEEIQLRVNN SVQNRQNFVV KGDSGVLNEQ IAAKEKEESE PTCEPSREEE MPVEKDENYD 250 260 270 280 290 300 PKTEDGQASQ SRYSKRRIWR SVKLKDYKLV GDQEDHGSAK RICGRRKRPG GPEARCKDCG 310 320 330 340 350 360 KVFKYNHFLA IHQRSHTGER PFKCNECGKG FAQKHSLQVH TRMHTGERPY TCTVCSKALT 370 380 390 400 410 420 TKHSLLEHMS LHSGQKSFTC DQCGKYFSQN RQLKSHYRVH TGHSLPECKD CHRKFMDVSQ 430 440 450 460 470 480 LKKHLRTHTG EKPFTCEICG KSFTAKSSLQ THIRIHRGEK PYSCGICGKS FSDSSAKRRH 490 500 510 520 530 540 CILHTGKKPF SCPECNLQFA RLDNLKAHLK IHSKEKHASD ASSISGSSNT EEVRNILQLQ 550 560 570 580 590 600 PYQLSTSGEQ EIQLLVTDSV HNINFMPGPS QGISIVTAES SQNMTADQAA NLTLLTQQPE 610 620 630 640 650 660 QLQNLILSAQ QEQTEHIQSL NMIESQMGPS QTEPVHVITL SKETLEHLHA HQEQTEELHL 670 680 690 ATSTSDPAQH LQLTQEPGPP PPTHHVPQPT PLGQEQS
	Isoform 2 [UniParc]. Checksum: 29DD1F8B35FDB993	FASTA	333	37,620
	10 20 30 40 50 60 MAETSPEPSG QLVVHSDAHS DTVLASFEDQ RKKGFLCDIT LIVENVHFRA HKALLAASSE 70 80 90 100 110 120 YFSMMFAEEG EIGQSIYMLE GMVADTFGIL LEFIYTGYLH ASEKSTEQIL ATAQFLKVYD 130 140 150 160 170 180 LVKAYTDFQN NHSSPKPTTL NTAGAPVVVI SNKKNDPPKR KRGRPKKVNT LQEEKSELAA 190 200 210 220 230 240 EEEIQLRVNN SVQNRQNFVV KGDSGVLNEQ IAAKEKEESE PTCEPSREEE MPVEKDENYD 250 260 270 280 290 300 PKTEDGQASQ SRYSKRRIWR SVKLKDYKLV GDQEDHGSAK RICGRRKRPG GPEARCKDCG 310 320 330 KVFKYNHFLA IHQRSHTGND VFKADCSVLQ NWE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro." Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain and Eye.
[5]	"Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2." de Greef J.C., Wang J., Balog J., den Dunnen J.T., Frants R.R., Straasheijm K.R., Aytekin C., van der Burg M., Duprez L., Ferster A., Gennery A.R., Gimelli G., Reisli I., Schuetz C., Schulz A., Smeets D.F., Sznajer Y., Wijmenga C. , van Eggermond M.C., van Ostaijen-Ten Dam M.M., Lankester A.C., van Tol M.J., van den Elsen P.J., Weemaes C.M., van der Maarel S.M. Am. J. Hum. Genet. 88:796-804(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ICF2 GLY-408, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB007901 mRNA. Translation: BAA23713.2. Different initiation. AL109947 Genomic DNA. Translation: CAI23346.1. BC036731 mRNA. Translation: AAH36731.1. BC117374 mRNA. Translation: AAI17375.1. BC117376 mRNA. Translation: AAI17377.1.
IPI	IPI00011180. IPI00656048.
RefSeq	NP_001157785.1. NM_001164313.1. NP_055612.2. NM_014797.2.
UniGene	Hs.409876.
3D structure databases
ProteinModelPortal	O43167.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43167. 1 interaction.
MINT	MINT-1464352.
PTM databases
PhosphoSite	O43167.
Proteomic databases
PaxDb	O43167.
PRIDE	O43167.
Protocols and materials databases
DNASU	9841.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000230122; ENSP00000230122; ENSG00000112365.
GeneID	9841.
KEGG	hsa:9841.
UCSC	uc003ptl.1. human. uc003ptm.3. human.
Organism-specific databases
CTD	9841.
GeneCards	GC06M109784.
HGNC	HGNC:21143. ZBTB24.
MIM	614064. gene. 614069. phenotype.
neXtProt	NX_O43167.
Orphanet	2268. ICF syndrome.
PharmGKB	PA134904966.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000155762.
HOVERGEN	HBG053990.
InParanoid	O43167.
KO	K10503.
OMA	EFIYTGY.
OrthoDB	EOG4W3SMW.
PhylomeDB	O43167.
Gene expression databases
Bgee	O43167.
CleanEx	HS_ZBTB24.
Genevestigator	O43167.
GermOnline	ENSG00000112365. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 8 hits. 3.30.710.10. 1 hit.
InterPro	IPR017956. AT_hook_DNA-bd_motif. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00651. BTB. 1 hit. [Graphical view]
SMART	SM00384. AT_hook. 1 hit. SM00225. BTB. 1 hit. SM00355. ZnF_C2H2. 8 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 8 hits. PS50157. ZINC_FINGER_C2H2_2. 8 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9841.
NextBio	37082.
SOURCE	Search...

Entry information

Entry name

ZBT24_HUMAN

Accession

Primary (citable) accession number: O43167
Secondary accession number(s): Q17RC6, Q5TED5, Q8N455

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 24, 2005
Last modified:	May 1, 2013
This is version 125 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.