Q9BUL5 (PHF23_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
PHD finger protein 23

Alternative name(s):
PDH-containing protein JUNE-1

Gene names

Name:

PHF23

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	403 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Chromosomal rearrangement
Domain	Zinc-finger
Ligand	Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	zinc 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 403	403	PHD finger protein 23		PRO_0000302830
Regions
	Zinc finger	339 – 387	49	PHD-type
	Compositional bias	248 – 261	14	Poly-Glu
Sites
	Site	120 – 121	2	Breakpoint for translocation to form NUP98-PHF23 oncogene
Amino acid modifications
	Modified residue	147	1	Phosphoserine Ref.6
	Modified residue	150	1	Phosphoserine Ref.6
	Modified residue	165	1	Phosphothreonine Ref.6
	Modified residue	315	1	Phosphoserine Ref.6 Ref.7
	Modified residue	316	1	Phosphoserine Ref.6
	Modified residue	317	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	150 – 158	9	SPTSLTHTS → SRPCAANTP in isoform 2.		VSP_027962
	Alternative sequence	159 – 403	245	Missing in isoform 2.		VSP_027963
Experimental info
	Sequence conflict	390	1	E → D in BAB15498. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 7C9DA0FA8D72C8D0	FASTA	403	43,818
	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
	Isoform 2 (JUNE1B) [UniParc]. Checksum: 9890E2E783233032	FASTA	158	17,116
	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 APDSATLLEK MKLKDSLFDL DGPKVASPLS RPCAANTP

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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].
+	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.
IPI	IPI00063434. IPI00884059.
RefSeq	NP_077273.2. NM_024297.2.
UniGene	Hs.644724.
3D structure databases
HSSP	HSSP built from PDB template 1WEP based on UniProtKB Q80TJ7.
ProteinModelPortal	Q9BUL5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BUL5. 3 interactions.
MINT	MINT-1413777.
STRING	9606.ENSP00000322579.
PTM databases
PhosphoSite	Q9BUL5.
Polymorphism databases
DMDM	74733231.
Proteomic databases
PaxDb	Q9BUL5.
PRIDE	Q9BUL5.
Protocols and materials databases
DNASU	79142.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320316; ENSP00000322579; ENSG00000040633.
GeneID	79142.
KEGG	hsa:79142.
UCSC	uc002gfa.3. human.
Organism-specific databases
CTD	79142.
GeneCards	GC17M007138.
HGNC	HGNC:28428. PHF23.
HPA	HPA052410.
MIM	612910. gene.
neXtProt	NX_Q9BUL5.
PharmGKB	PA142671175.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG278476.
HOGENOM	HOG000010286.
HOVERGEN	HBG071437.
InParanoid	Q9BUL5.
OMA	THASRPP.
OrthoDB	EOG4HX521.
PhylomeDB	Q9BUL5.
Gene expression databases
ArrayExpress	Q9BUL5.
Bgee	Q9BUL5.
CleanEx	HS_PHF23.
Genevestigator	Q9BUL5.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR011011. Znf_FYVE_PHD. IPR001965. Znf_PHD. IPR019787. Znf_PHD-finger. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF00628. PHD. 1 hit. [Graphical view]
SMART	SM00249. PHD. 1 hit. [Graphical view]
SUPFAM	SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITE	PS01359. ZF_PHD_1. False negative. PS50016. ZF_PHD_2. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PHF23. human.
GenomeRNAi	79142.
NextBio	68025.
SOURCE	Search...

Entry information

Entry name

PHF23_HUMAN

Accession

Primary (citable) accession number: Q9BUL5
Secondary accession number(s): A1DZ74 , D3DTN4, Q8IZK0, Q96HG7, Q9H5X0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 99 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.