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O43167 (ZBT24_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 132. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger and BTB domain-containing protein 24
Alternative name(s):
Zinc finger protein 450
Gene names
Name:ZBTB24
Synonyms:KIAA0441, ZNF450
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length697 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MDFIQ997503EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 697697Zinc finger and BTB domain-containing protein 24
PRO_0000047734

Regions

Domain10 – 133124BTB
DNA binding159 – 17113A.T hook
Zinc finger294 – 31623C2H2-type 1
Zinc finger322 – 34423C2H2-type 2
Zinc finger350 – 37223C2H2-type 3
Zinc finger378 – 40023C2H2-type 4
Zinc finger406 – 42823C2H2-type 5
Zinc finger434 – 45623C2H2-type 6
Zinc finger462 – 48423C2H2-type 7
Zinc finger490 – 51223C2H2-type 8

Natural variations

Alternative sequence319 – 33315ERPFK…KGFAQ → NDVFKADCSVLQNWE in isoform 2.
VSP_016221
Alternative sequence334 – 697364Missing in isoform 2.
VSP_016222
Natural variant4081C → G in ICF2. Ref.5
VAR_065846
Natural variant5181A → T.
Corresponds to variant rs2232448 [ dbSNP | Ensembl ].
VAR_057458

Experimental info

Sequence conflict1511S → P in BAA23713. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 24, 2005. Version 2.
Checksum: F2BD331E748CB494

FASTA69778,282
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 29DD1F8B35FDB993
Show »

FASTA33337,620

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001157785.1. NM_001164313.1.
NP_055612.2. NM_014797.2.
UniGeneHs.409876.

3D structure databases

ProteinModelPortalO43167.
SMRO43167. Positions 19-124, 251-516.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115177. 7 interactions.
IntActO43167. 4 interactions.
MINTMINT-1464352.
STRING9606.ENSP00000230122.

PTM databases

PhosphoSiteO43167.

Proteomic databases

PaxDbO43167.
PRIDEO43167.

Protocols and materials databases

DNASU9841.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230122; ENSP00000230122; ENSG00000112365. [O43167-1]
GeneID9841.
KEGGhsa:9841.
UCSCuc003ptl.1. human. [O43167-1]
uc003ptm.3. human. [O43167-2]

Organism-specific databases

CTD9841.
GeneCardsGC06M109784.
HGNCHGNC:21143. ZBTB24.
HPAHPA017872.
HPA049003.
MIM614064. gene.
614069. phenotype.
neXtProtNX_O43167.
Orphanet2268. ICF syndrome.
PharmGKBPA134904966.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000155762.
HOVERGENHBG053990.
InParanoidO43167.
KOK10503.
OMAEFIYTGY.
OrthoDBEOG7KSX7Q.
PhylomeDBO43167.
TreeFamTF332049.

Gene expression databases

BgeeO43167.
CleanExHS_ZBTB24.
GenevestigatorO43167.

Family and domain databases

Gene3D3.30.160.60. 8 hits.
3.30.710.10. 1 hit.
InterProIPR017956. 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]
PfamPF00651. BTB. 1 hit.
[Graphical view]
SMARTSM00384. AT_hook. 1 hit.
SM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 8 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi9841.
NextBio37082.
PROO43167.
SOURCESearch...

Entry information

Entry nameZBT24_HUMAN
AccessionPrimary (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: March 19, 2014
This is version 132 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM