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Q9BUL5

- PHF23_HUMAN

UniProt

Q9BUL5 - PHF23_HUMAN

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Protein

PHD finger protein 23

Gene

PHF23

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

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
Complete GO annotation...

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

BgeeiQ9BUL5.
CleanExiHS_PHF23.
ExpressionAtlasiQ9BUL5. baseline and differential.
GenevestigatoriQ9BUL5.

Organism-specific databases

HPAiHPA052410.

Interactioni

Protein-protein interaction databases

BioGridi122561. 4 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.
GeneTreeiENSGT00530000063882.
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

        10         20         30         40         50
MLEAMAEPSP EDPPPTLKPE TQPPEKRRRT IEDFNKFCSF VLAYAGYIPP
60 70 80 90 100
SKEESDWPAS GSSSPLRGES AADSDGWDSA PSDLRTIQTF VKKAKSSKRR
110 120 130 140 150
AAQAGPTQPG PPRSTFSRLQ APDSATLLEK MKLKDSLFDL DGPKVASPLS
160 170 180 190 200
PTSLTHTSRP PAALTPVPLS QGDLSHPPRK KDRKNRKLGP GAGAGFGVLR
210 220 230 240 250
RPRPTPGDGE KRSRIKKSKK RKLKKAERGD RLPPPGPPQA PPSDTDSEEE
260 270 280 290 300
EEEEEEEEEE EMATVVGGEA PVPVLPTPPE APRPPATVHP EGVPPADSES
310 320 330 340 350
KEVGSTETSQ DGDASSSEGE MRVMDEDIMV ESGDDSWDLI TCYCRKPFAG
360 370 380 390 400
RPMIECSLCG TWIHLSCAKI KKTNVPDFFY CQKCKELRPE ARRLGGPPKS

GEP
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. [Q9BUL5-3]
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. 4 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 . [Q9BUL5-3 ]
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.
GeneTreei ENSGT00530000063882.
HOGENOMi HOG000010286.
HOVERGENi HBG071437.
InParanoidi Q9BUL5.
OMAi THASRPP.
OrthoDBi EOG7NW6B4.
PhylomeDBi Q9BUL5.
TreeFami TF331373.

Miscellaneous databases

ChiTaRSi PHF23. human.
GenomeRNAii 79142.
NextBioi 35473077.
PROi Q9BUL5.
SOURCEi Search...

Gene expression databases

Bgeei Q9BUL5.
CleanExi HS_PHF23.
ExpressionAtlasi Q9BUL5. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 111 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