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O43167

- ZBT24_HUMAN

UniProt

O43167 - ZBT24_HUMAN

Protein

Zinc finger and BTB domain-containing protein 24

Gene

ZBTB24

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (24 May 2005)
      Previous versions | rss
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    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
    3. protein binding Source: IntAct

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. transcription, DNA-templated Source: UniProtKB-KW

    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-SubCell

    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. 8 interactions.
    IntActiO43167. 4 interactions.
    MINTiMINT-1464352.
    STRINGi9606.ENSP00000230122.

    Structurei

    3D structure databases

    ProteinModelPortaliO43167.
    SMRiO43167. Positions 19-124, 296-542.
    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.
    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

    MAETSPEPSG QLVVHSDAHS DTVLASFEDQ RKKGFLCDIT LIVENVHFRA    50
    HKALLAASSE YFSMMFAEEG EIGQSIYMLE GMVADTFGIL LEFIYTGYLH 100
    ASEKSTEQIL ATAQFLKVYD LVKAYTDFQN NHSSPKPTTL NTAGAPVVVI 150
    SNKKNDPPKR KRGRPKKVNT LQEEKSELAA EEEIQLRVNN SVQNRQNFVV 200
    KGDSGVLNEQ IAAKEKEESE PTCEPSREEE MPVEKDENYD PKTEDGQASQ 250
    SRYSKRRIWR SVKLKDYKLV GDQEDHGSAK RICGRRKRPG GPEARCKDCG 300
    KVFKYNHFLA IHQRSHTGER PFKCNECGKG FAQKHSLQVH TRMHTGERPY 350
    TCTVCSKALT TKHSLLEHMS LHSGQKSFTC DQCGKYFSQN RQLKSHYRVH 400
    TGHSLPECKD CHRKFMDVSQ LKKHLRTHTG EKPFTCEICG KSFTAKSSLQ 450
    THIRIHRGEK PYSCGICGKS FSDSSAKRRH CILHTGKKPF SCPECNLQFA 500
    RLDNLKAHLK IHSKEKHASD ASSISGSSNT EEVRNILQLQ PYQLSTSGEQ 550
    EIQLLVTDSV HNINFMPGPS QGISIVTAES SQNMTADQAA NLTLLTQQPE 600
    QLQNLILSAQ QEQTEHIQSL NMIESQMGPS QTEPVHVITL SKETLEHLHA 650
    HQEQTEELHL ATSTSDPAQH LQLTQEPGPP PPTHHVPQPT PLGQEQS 697
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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, 296-542.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115177. 8 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.
    HOGENOMi HOG000155762.
    HOVERGENi HBG053990.
    InParanoidi O43167.
    KOi K10503.
    OMAi EFIYTGY.
    OrthoDBi EOG7KSX7Q.
    PhylomeDBi O43167.
    TreeFami TF332049.

    Miscellaneous databases

    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

    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: October 1, 2014
    This is version 137 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