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Q9BUL5

- PHF23_HUMAN

UniProt

Q9BUL5 - PHF23_HUMAN

Protein

PHD finger protein 23

Gene

PHF23

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei120 – 1212Breakpoint for translocation to form NUP98-PHF23 oncogene

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri339 – 38749PHD-typeAdd
    BLAST

    GO - Molecular functioni

    1. zinc ion binding Source: InterPro

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    PHD finger protein 23
    Alternative name(s):
    PDH-containing protein JUNE-1
    Gene namesi
    Name:PHF23
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:28428. PHF23.

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving PHF23 is found in a patient with acute myeloid leukemia (AML). Translocation t(11;17)(p15;p13) with NUP98.

    Organism-specific databases

    PharmGKBiPA142671175.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 403403PHD finger protein 23PRO_0000302830Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei147 – 1471Phosphoserine1 Publication
    Modified residuei150 – 1501Phosphoserine1 Publication
    Modified residuei165 – 1651Phosphothreonine1 Publication
    Modified residuei315 – 3151Phosphoserine2 Publications
    Modified residuei316 – 3161Phosphoserine1 Publication
    Modified residuei317 – 3171Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9BUL5.
    PaxDbiQ9BUL5.
    PRIDEiQ9BUL5.

    PTM databases

    PhosphoSiteiQ9BUL5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BUL5.
    BgeeiQ9BUL5.
    CleanExiHS_PHF23.
    GenevestigatoriQ9BUL5.

    Organism-specific databases

    HPAiHPA052410.

    Interactioni

    Protein-protein interaction databases

    BioGridi122561. 3 interactions.
    IntActiQ9BUL5. 3 interactions.
    MINTiMINT-1413777.
    STRINGi9606.ENSP00000322579.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BUL5.
    SMRiQ9BUL5. Positions 336-386.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi248 – 26114Poly-GluAdd
    BLAST

    Sequence similaritiesi

    Belongs to the PHF23 family.Curated
    Contains 1 PHD-type zinc finger.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri339 – 38749PHD-typeAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG278476.
    HOGENOMiHOG000010286.
    HOVERGENiHBG071437.
    InParanoidiQ9BUL5.
    OMAiTHASRPP.
    OrthoDBiEOG7NW6B4.
    PhylomeDBiQ9BUL5.
    TreeFamiTF331373.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF00628. PHD. 1 hit.
    [Graphical view]
    SMARTiSM00249. PHD. 1 hit.
    [Graphical view]
    SUPFAMiSSF57903. SSF57903. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BUL5-1) [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

    MLEAMAEPSP EDPPPTLKPE TQPPEKRRRT IEDFNKFCSF VLAYAGYIPP    50
    SKEESDWPAS GSSSPLRGES AADSDGWDSA PSDLRTIQTF VKKAKSSKRR 100
    AAQAGPTQPG PPRSTFSRLQ APDSATLLEK MKLKDSLFDL DGPKVASPLS 150
    PTSLTHTSRP PAALTPVPLS QGDLSHPPRK KDRKNRKLGP GAGAGFGVLR 200
    RPRPTPGDGE KRSRIKKSKK RKLKKAERGD RLPPPGPPQA PPSDTDSEEE 250
    EEEEEEEEEE EMATVVGGEA PVPVLPTPPE APRPPATVHP EGVPPADSES 300
    KEVGSTETSQ DGDASSSEGE MRVMDEDIMV ESGDDSWDLI TCYCRKPFAG 350
    RPMIECSLCG TWIHLSCAKI KKTNVPDFFY CQKCKELRPE ARRLGGPPKS 400
    GEP 403
    Length:403
    Mass (Da):43,818
    Last modified:June 1, 2001 - v1
    Checksum:i7C9DA0FA8D72C8D0
    GO
    Isoform 2 (identifier: Q9BUL5-2) [UniParc]FASTAAdd to Basket

    Also known as: JUNE1B

    The sequence of this isoform differs from the canonical sequence as follows:
         150-158: SPTSLTHTS → SRPCAANTP
         159-403: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:158
    Mass (Da):17,116
    Checksum:i9890E2E783233032
    GO
    Isoform 3 (identifier: Q9BUL5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         54-120: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:336
    Mass (Da):36,733
    Checksum:i86E24038F78E2B56
    GO

    Sequence cautioni

    The sequence BAB15498.1 differs from that shown. Reason: Frameshift at position 241.
    The sequence ABK59096.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti390 – 3901E → D in BAB15498. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei54 – 12067Missing in isoform 3. 1 PublicationVSP_056058Add
    BLAST
    Alternative sequencei150 – 1589SPTSLTHTS → SRPCAANTP in isoform 2. 1 PublicationVSP_027962
    Alternative sequencei159 – 403245Missing in isoform 2. 1 PublicationVSP_027963Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EF071958 mRNA. Translation: ABK59096.1. Different initiation.
    EF071959 mRNA. Translation: ABK59097.1.
    AY099328 mRNA. Translation: AAM44129.1.
    AK026537 mRNA. Translation: BAB15498.1. Frameshift.
    AK074766 mRNA. Translation: BAC11192.1.
    AK297040 mRNA. Translation: BAG59568.1.
    AC120057 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90242.1.
    CH471108 Genomic DNA. Translation: EAW90243.1.
    BC002509 mRNA. Translation: AAH02509.1.
    BC008630 mRNA. Translation: AAH08630.1.
    CCDSiCCDS42250.1. [Q9BUL5-1]
    RefSeqiNP_001271446.1. NM_001284517.1.
    NP_001271447.1. NM_001284518.1.
    NP_077273.2. NM_024297.2. [Q9BUL5-1]
    UniGeneiHs.644724.

    Genome annotation databases

    EnsembliENST00000320316; ENSP00000322579; ENSG00000040633. [Q9BUL5-1]
    ENST00000571362; ENSP00000460738; ENSG00000040633.
    GeneIDi79142.
    KEGGihsa:79142.
    UCSCiuc002gfa.3. human. [Q9BUL5-1]

    Polymorphism databases

    DMDMi74733231.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EF071958 mRNA. Translation: ABK59096.1 . Different initiation.
    EF071959 mRNA. Translation: ABK59097.1 .
    AY099328 mRNA. Translation: AAM44129.1 .
    AK026537 mRNA. Translation: BAB15498.1 . Frameshift.
    AK074766 mRNA. Translation: BAC11192.1 .
    AK297040 mRNA. Translation: BAG59568.1 .
    AC120057 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90242.1 .
    CH471108 Genomic DNA. Translation: EAW90243.1 .
    BC002509 mRNA. Translation: AAH02509.1 .
    BC008630 mRNA. Translation: AAH08630.1 .
    CCDSi CCDS42250.1. [Q9BUL5-1 ]
    RefSeqi NP_001271446.1. NM_001284517.1.
    NP_001271447.1. NM_001284518.1.
    NP_077273.2. NM_024297.2. [Q9BUL5-1 ]
    UniGenei Hs.644724.

    3D structure databases

    ProteinModelPortali Q9BUL5.
    SMRi Q9BUL5. Positions 336-386.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122561. 3 interactions.
    IntActi Q9BUL5. 3 interactions.
    MINTi MINT-1413777.
    STRINGi 9606.ENSP00000322579.

    Chemistry

    ChEMBLi CHEMBL2424508.

    PTM databases

    PhosphoSitei Q9BUL5.

    Polymorphism databases

    DMDMi 74733231.

    Proteomic databases

    MaxQBi Q9BUL5.
    PaxDbi Q9BUL5.
    PRIDEi Q9BUL5.

    Protocols and materials databases

    DNASUi 79142.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320316 ; ENSP00000322579 ; ENSG00000040633 . [Q9BUL5-1 ]
    ENST00000571362 ; ENSP00000460738 ; ENSG00000040633 .
    GeneIDi 79142.
    KEGGi hsa:79142.
    UCSCi uc002gfa.3. human. [Q9BUL5-1 ]

    Organism-specific databases

    CTDi 79142.
    GeneCardsi GC17M007138.
    HGNCi HGNC:28428. PHF23.
    HPAi HPA052410.
    MIMi 612910. gene.
    neXtProti NX_Q9BUL5.
    PharmGKBi PA142671175.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG278476.
    HOGENOMi HOG000010286.
    HOVERGENi HBG071437.
    InParanoidi Q9BUL5.
    OMAi THASRPP.
    OrthoDBi EOG7NW6B4.
    PhylomeDBi Q9BUL5.
    TreeFami TF331373.

    Miscellaneous databases

    ChiTaRSi PHF23. human.
    GenomeRNAii 79142.
    NextBioi 68025.
    PROi Q9BUL5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BUL5.
    Bgeei Q9BUL5.
    CleanExi HS_PHF23.
    Genevestigatori Q9BUL5.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF00628. PHD. 1 hit.
    [Graphical view ]
    SMARTi SM00249. PHD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57903. SSF57903. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia."
      Reader J.C., Meekins J.S., Gojo I., Ning Y.
      Leukemia 21:842-844(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL REARRANGEMENT.
      Tissue: Peripheral blood.
    2. "Identification of JUNE-1, a novel gene encoding a PHD-containing protein."
      Yuan Z.Q., McCann T., Lappin T.R.J.
      Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
      Tissue: Signet-ring cell carcinoma, Teratocarcinoma and Umbilical cord blood.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 1).
      Tissue: Brain and Colon.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-147; SER-150; THR-165; SER-315; SER-316 AND SER-317, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-315, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiPHF23_HUMAN
    AccessioniPrimary (citable) accession number: Q9BUL5
    Secondary accession number(s): A1DZ74
    , B4DLK6, D3DTN4, Q8IZK0, Q96HG7, Q9H5X0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 110 of the entry and version 1 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 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3