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Q9BUL5 (PHF23_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
PHD finger protein 23
Alternative name(s):
PDH-containing protein JUNE-1
Gene names
Name:PHF23
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length403 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Involvement in disease

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

Sequence similarities

Belongs to the PHF23 family.

Contains 1 PHD-type zinc finger.

Sequence caution

The sequence ABK59096.1 differs from that shown. Reason: Erroneous initiation.

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   DomainZinc-finger
   LigandMetal-binding
Zinc
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionzinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BUL5-1)

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: Q9BUL5-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 403403PHD finger protein 23
PRO_0000302830

Regions

Zinc finger339 – 38749PHD-type
Compositional bias248 – 26114Poly-Glu

Sites

Site120 – 1212Breakpoint for translocation to form NUP98-PHF23 oncogene

Amino acid modifications

Modified residue11N-acetylmethionine Ref.9
Modified residue1471Phosphoserine Ref.6
Modified residue1501Phosphoserine Ref.6
Modified residue1651Phosphothreonine Ref.6
Modified residue3151Phosphoserine Ref.6 Ref.7
Modified residue3161Phosphoserine Ref.6
Modified residue3171Phosphoserine Ref.6

Natural variations

Alternative sequence150 – 1589SPTSLTHTS → SRPCAANTP in isoform 2.
VSP_027962
Alternative sequence159 – 403245Missing in isoform 2.
VSP_027963

Experimental info

Sequence conflict3901E → D in BAB15498. Ref.3

Sequences

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

Last modified June 1, 2001. Version 1.
Checksum: 7C9DA0FA8D72C8D0

FASTA40343,818
        10         20         30         40         50         60 
MLEAMAEPSP EDPPPTLKPE TQPPEKRRRT IEDFNKFCSF VLAYAGYIPP SKEESDWPAS 

        70         80         90        100        110        120 
GSSSPLRGES AADSDGWDSA PSDLRTIQTF VKKAKSSKRR AAQAGPTQPG PPRSTFSRLQ 

       130        140        150        160        170        180 
APDSATLLEK MKLKDSLFDL DGPKVASPLS PTSLTHTSRP PAALTPVPLS QGDLSHPPRK 

       190        200        210        220        230        240 
KDRKNRKLGP GAGAGFGVLR RPRPTPGDGE KRSRIKKSKK RKLKKAERGD RLPPPGPPQA 

       250        260        270        280        290        300 
PPSDTDSEEE EEEEEEEEEE EMATVVGGEA PVPVLPTPPE APRPPATVHP EGVPPADSES 

       310        320        330        340        350        360 
KEVGSTETSQ DGDASSSEGE MRVMDEDIMV ESGDDSWDLI TCYCRKPFAG RPMIECSLCG 

       370        380        390        400 
TWIHLSCAKI KKTNVPDFFY CQKCKELRPE ARRLGGPPKS GEP 

« Hide

Isoform 2 (JUNE1B) [UniParc].

Checksum: 9890E2E783233032
Show »

FASTA15817,116

References

« Hide 'large scale' references
[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. expand/collapse author list , 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] (ISOFORM 1).
Tissue: Signet-ring cell carcinoma and Teratocarcinoma.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
[7]"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.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CH471108 Genomic DNA. Translation: EAW90242.1.
CH471108 Genomic DNA. Translation: EAW90243.1.
BC002509 mRNA. Translation: AAH02509.1.
BC008630 mRNA. Translation: AAH08630.1.
CCDSCCDS42250.1. [Q9BUL5-1]
RefSeqNP_001271446.1. NM_001284517.1.
NP_001271447.1. NM_001284518.1.
NP_077273.2. NM_024297.2. [Q9BUL5-1]
UniGeneHs.644724.

3D structure databases

ProteinModelPortalQ9BUL5.
SMRQ9BUL5. Positions 336-386.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122561. 3 interactions.
IntActQ9BUL5. 3 interactions.
MINTMINT-1413777.
STRING9606.ENSP00000322579.

Chemistry

ChEMBLCHEMBL2424508.

PTM databases

PhosphoSiteQ9BUL5.

Polymorphism databases

DMDM74733231.

Proteomic databases

MaxQBQ9BUL5.
PaxDbQ9BUL5.
PRIDEQ9BUL5.

Protocols and materials databases

DNASU79142.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320316; ENSP00000322579; ENSG00000040633. [Q9BUL5-1]
GeneID79142.
KEGGhsa:79142.
UCSCuc002gfa.3. human. [Q9BUL5-1]

Organism-specific databases

CTD79142.
GeneCardsGC17M007138.
HGNCHGNC:28428. PHF23.
HPAHPA052410.
MIM612910. gene.
neXtProtNX_Q9BUL5.
PharmGKBPA142671175.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG278476.
HOGENOMHOG000010286.
HOVERGENHBG071437.
InParanoidQ9BUL5.
OMATHASRPP.
OrthoDBEOG7NW6B4.
PhylomeDBQ9BUL5.
TreeFamTF331373.

Gene expression databases

ArrayExpressQ9BUL5.
BgeeQ9BUL5.
CleanExHS_PHF23.
GenevestigatorQ9BUL5.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF00628. PHD. 1 hit.
[Graphical view]
SMARTSM00249. PHD. 1 hit.
[Graphical view]
SUPFAMSSF57903. SSF57903. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPHF23. human.
GenomeRNAi79142.
NextBio68025.
PROQ9BUL5.
SOURCESearch...

Entry information

Entry namePHF23_HUMAN
AccessionPrimary (citable) accession number: Q9BUL5
Secondary accession number(s): A1DZ74 expand/collapse secondary AC list , D3DTN4, Q8IZK0, Q96HG7, Q9H5X0
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 109 of the entry and version 1 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 chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM