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O43167

- ZBT24_HUMAN

UniProt

O43167 - ZBT24_HUMAN

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Protein

Zinc finger and BTB domain-containing protein 24

Gene

ZBTB24

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in BMP2-induced transcription.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi159 – 17113A.T hookAdd
BLAST
Zinc fingeri294 – 31623C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri322 – 34423C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri350 – 37223C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri378 – 40023C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri406 – 42823C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri434 – 45623C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri462 – 48423C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri490 – 51223C2H2-type 8PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. hematopoietic progenitor cell differentiation Source: Ensembl
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger and BTB domain-containing protein 24
Alternative name(s):
Zinc finger protein 450
Gene namesi
Name:ZBTB24
Synonyms:KIAA0441, ZNF450
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21143. ZBTB24.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti408 – 4081C → G in ICF2. 1 Publication
VAR_065846

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614069. phenotype.
Orphaneti2268. ICF syndrome.
PharmGKBiPA134904966.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 697697Zinc finger and BTB domain-containing protein 24PRO_0000047734Add
BLAST

Proteomic databases

MaxQBiO43167.
PaxDbiO43167.
PRIDEiO43167.

PTM databases

PhosphoSiteiO43167.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in naive B-cells.1 Publication

Developmental stagei

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.1 Publication

Gene expression databases

BgeeiO43167.
CleanExiHS_ZBTB24.
GenevestigatoriO43167.

Organism-specific databases

HPAiHPA017872.
HPA049003.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997503EBI-744471,EBI-724076

Protein-protein interaction databases

BioGridi115177. 11 interactions.
IntActiO43167. 4 interactions.
MINTiMINT-1464352.
STRINGi9606.ENSP00000230122.

Structurei

3D structure databases

ProteinModelPortaliO43167.
SMRiO43167. Positions 19-124, 296-516.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini10 – 133124BTBPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 A.T hook DNA-binding domain.Curated
Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 8 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri294 – 31623C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri322 – 34423C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri350 – 37223C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri378 – 40023C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri406 – 42823C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri434 – 45623C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri462 – 48423C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri490 – 51223C2H2-type 8PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00760000118922.
HOGENOMiHOG000155762.
HOVERGENiHBG053990.
InParanoidiO43167.
KOiK10503.
OMAiEFIYTGY.
OrthoDBiEOG7KSX7Q.
PhylomeDBiO43167.
TreeFamiTF332049.

Family and domain databases

Gene3Di3.30.160.60. 8 hits.
3.30.710.10. 1 hit.
InterProiIPR017956. 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]
PfamiPF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00384. AT_hook. 1 hit.
SM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 8 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O43167-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAETSPEPSG QLVVHSDAHS DTVLASFEDQ RKKGFLCDIT LIVENVHFRA
60 70 80 90 100
HKALLAASSE YFSMMFAEEG EIGQSIYMLE GMVADTFGIL LEFIYTGYLH
110 120 130 140 150
ASEKSTEQIL ATAQFLKVYD LVKAYTDFQN NHSSPKPTTL NTAGAPVVVI
160 170 180 190 200
SNKKNDPPKR KRGRPKKVNT LQEEKSELAA EEEIQLRVNN SVQNRQNFVV
210 220 230 240 250
KGDSGVLNEQ IAAKEKEESE PTCEPSREEE MPVEKDENYD PKTEDGQASQ
260 270 280 290 300
SRYSKRRIWR SVKLKDYKLV GDQEDHGSAK RICGRRKRPG GPEARCKDCG
310 320 330 340 350
KVFKYNHFLA IHQRSHTGER PFKCNECGKG FAQKHSLQVH TRMHTGERPY
360 370 380 390 400
TCTVCSKALT TKHSLLEHMS LHSGQKSFTC DQCGKYFSQN RQLKSHYRVH
410 420 430 440 450
TGHSLPECKD CHRKFMDVSQ LKKHLRTHTG EKPFTCEICG KSFTAKSSLQ
460 470 480 490 500
THIRIHRGEK PYSCGICGKS FSDSSAKRRH CILHTGKKPF SCPECNLQFA
510 520 530 540 550
RLDNLKAHLK IHSKEKHASD ASSISGSSNT EEVRNILQLQ PYQLSTSGEQ
560 570 580 590 600
EIQLLVTDSV HNINFMPGPS QGISIVTAES SQNMTADQAA NLTLLTQQPE
610 620 630 640 650
QLQNLILSAQ QEQTEHIQSL NMIESQMGPS QTEPVHVITL SKETLEHLHA
660 670 680 690
HQEQTEELHL ATSTSDPAQH LQLTQEPGPP PPTHHVPQPT PLGQEQS
Length:697
Mass (Da):78,282
Last modified:May 24, 2005 - v2
Checksum:iF2BD331E748CB494
GO
Isoform 2 (identifier: O43167-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:333
Mass (Da):37,620
Checksum:i29DD1F8B35FDB993
GO

Sequence cautioni

The sequence BAA23713.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti151 – 1511S → P in BAA23713. (PubMed:9455477)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti408 – 4081C → G in ICF2. 1 Publication
VAR_065846
Natural varianti518 – 5181A → T.
Corresponds to variant rs2232448 [ dbSNP | Ensembl ].
VAR_057458

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei319 – 33315ERPFK…KGFAQ → NDVFKADCSVLQNWE in isoform 2. 1 PublicationVSP_016221Add
BLAST
Alternative sequencei334 – 697364Missing in isoform 2. 1 PublicationVSP_016222Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34509.1. [O43167-1]
RefSeqiNP_001157785.1. NM_001164313.1. [O43167-2]
NP_055612.2. NM_014797.2. [O43167-1]
UniGeneiHs.409876.

Genome annotation databases

EnsembliENST00000230122; ENSP00000230122; ENSG00000112365. [O43167-1]
GeneIDi9841.
KEGGihsa:9841.
UCSCiuc003ptl.1. human. [O43167-1]
uc003ptm.3. human. [O43167-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS34509.1. [O43167-1 ]
RefSeqi NP_001157785.1. NM_001164313.1. [O43167-2 ]
NP_055612.2. NM_014797.2. [O43167-1 ]
UniGenei Hs.409876.

3D structure databases

ProteinModelPortali O43167.
SMRi O43167. Positions 19-124, 296-516.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115177. 11 interactions.
IntActi O43167. 4 interactions.
MINTi MINT-1464352.
STRINGi 9606.ENSP00000230122.

PTM databases

PhosphoSitei O43167.

Proteomic databases

MaxQBi O43167.
PaxDbi O43167.
PRIDEi O43167.

Protocols and materials databases

DNASUi 9841.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000230122 ; ENSP00000230122 ; ENSG00000112365 . [O43167-1 ]
GeneIDi 9841.
KEGGi hsa:9841.
UCSCi uc003ptl.1. human. [O43167-1 ]
uc003ptm.3. human. [O43167-2 ]

Organism-specific databases

CTDi 9841.
GeneCardsi GC06M109784.
HGNCi HGNC:21143. ZBTB24.
HPAi HPA017872.
HPA049003.
MIMi 614064. gene.
614069. phenotype.
neXtProti NX_O43167.
Orphaneti 2268. ICF syndrome.
PharmGKBi PA134904966.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
GeneTreei ENSGT00760000118922.
HOGENOMi HOG000155762.
HOVERGENi HBG053990.
InParanoidi O43167.
KOi K10503.
OMAi EFIYTGY.
OrthoDBi EOG7KSX7Q.
PhylomeDBi O43167.
TreeFami TF332049.

Miscellaneous databases

ChiTaRSi ZBTB24. human.
GenomeRNAii 9841.
NextBioi 37082.
PROi O43167.
SOURCEi Search...

Gene expression databases

Bgeei O43167.
CleanExi HS_ZBTB24.
Genevestigatori O43167.

Family and domain databases

Gene3Di 3.30.160.60. 8 hits.
3.30.710.10. 1 hit.
InterProi 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 ]
Pfami PF00651. BTB. 1 hit.
[Graphical view ]
SMARTi SM00384. AT_hook. 1 hit.
SM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 8 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: VARIANT ICF2 GLY-408, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiZBT24_HUMAN
AccessioniPrimary (citable) accession number: O43167
Secondary accession number(s): Q17RC6, Q5TED5, Q8N455
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 24, 2005
Last modified: November 26, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3