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Protein

PHD finger protein 23

Gene

PHF23

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

Functioni

Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria.1 Publication

Caution

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri339 – 387PHD-typeAdd BLAST49

GO - Molecular functioni

GO - Biological processi

  • autophagy Source: UniProtKB-KW
  • mitotic chromosome condensation Source: GO_Central
  • negative regulation of autophagosome assembly Source: GO_Central
  • negative regulation of autophagosome maturation Source: GO_Central
  • positive regulation of protein ubiquitination Source: GO_Central

Keywordsi

Biological processAutophagy, Ubl conjugation pathway
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
PHD finger protein 231 Publication
Alternative name(s):
PDH-containing protein JUNE-1By similarity
Gene namesi
Name:PHF231 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000040633.12
HGNCiHGNC:28428 PHF23
MIMi612910 gene
neXtProtiNX_Q9BUL5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei120 – 121Breakpoint for translocation to form NUP98-PHF23 oncogene2

Organism-specific databases

DisGeNETi79142
OpenTargetsiENSG00000040633
PharmGKBiPA142671175

Chemistry databases

ChEMBLiCHEMBL2424508

Polymorphism and mutation databases

BioMutaiPHF23
DMDMi74733231

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003028301 – 403PHD finger protein 23Add BLAST403

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei124PhosphoserineCombined sources1
Modified residuei147PhosphoserineCombined sources1
Modified residuei150PhosphoserineCombined sources1
Modified residuei165PhosphothreonineCombined sources1
Modified residuei315PhosphoserineCombined sources1
Modified residuei316PhosphoserineCombined sources1
Modified residuei317PhosphoserineCombined sources1
Modified residuei400PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BUL5
MaxQBiQ9BUL5
PaxDbiQ9BUL5
PeptideAtlasiQ9BUL5
PRIDEiQ9BUL5

PTM databases

iPTMnetiQ9BUL5
PhosphoSitePlusiQ9BUL5

Expressioni

Tissue specificityi

Widely expressed in human tissues and various cell lines.1 Publication

Gene expression databases

BgeeiENSG00000040633
CleanExiHS_PHF23
ExpressionAtlasiQ9BUL5 baseline and differential
GenevisibleiQ9BUL5 HS

Organism-specific databases

HPAiHPA052410

Interactioni

Subunit structurei

Interacts with LRSAM1.1 Publication

Protein-protein interaction databases

BioGridi12256114 interactors.
IntActiQ9BUL5 6 interactors.
MINTiQ9BUL5
STRINGi9606.ENSP00000322579

Chemistry databases

BindingDBiQ9BUL5

Structurei

3D structure databases

ProteinModelPortaliQ9BUL5
SMRiQ9BUL5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi248 – 261Poly-GluAdd BLAST14

Domaini

The PHD-type zinc-finger domain is required for interaction with LRSAM1 and negative regulation of autophagy.1 Publication

Sequence similaritiesi

Belongs to the PHF23 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri339 – 387PHD-typeAdd BLAST49

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IMXF Eukaryota
ENOG4111YY1 LUCA
GeneTreeiENSGT00530000063882
HOGENOMiHOG000010286
HOVERGENiHBG071437
InParanoidiQ9BUL5
OMAiPMIECNQ
OrthoDBiEOG091G0GX5
PhylomeDBiQ9BUL5
TreeFamiTF331373

Family and domain databases

Gene3Di3.30.40.101 hit
InterProiView protein in InterPro
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF00628 PHD, 1 hit
SMARTiView protein in SMART
SM00249 PHD, 1 hit
SUPFAMiSSF57903 SSF57903, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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
Isoform 4 (identifier: Q9BUL5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MLEAMAEPSPE → MPGDCRR

Note: No experimental confirmation available.
Show »
Length:399
Mass (Da):43,448
Checksum:i58EFB2B5B6E4066C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti390E → D in BAB15498 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0572181 – 11MLEAMAEPSPE → MPGDCRR in isoform 4. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_05605854 – 120Missing in isoform 3. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_027962150 – 158SPTSLTHTS → SRPCAANTP in isoform 2. 1 Publication9
Alternative sequenceiVSP_027963159 – 403Missing in isoform 2. 1 PublicationAdd BLAST245

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
AK122901 mRNA Translation: BAG53790.1
AK297040 mRNA Translation: BAG59568.1
AC120057 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90241.1
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]
CCDS67143.1 [Q9BUL5-4]
CCDS67144.1 [Q9BUL5-3]
RefSeqiNP_001271446.1, NM_001284517.1 [Q9BUL5-3]
NP_001271447.1, NM_001284518.1 [Q9BUL5-4]
NP_077273.2, NM_024297.2 [Q9BUL5-1]
UniGeneiHs.644724

Genome annotation databases

EnsembliENST00000320316; ENSP00000322579; ENSG00000040633 [Q9BUL5-1]
ENST00000454255; ENSP00000414607; ENSG00000040633 [Q9BUL5-4]
ENST00000571362; ENSP00000460738; ENSG00000040633 [Q9BUL5-3]
GeneIDi79142
KEGGihsa:79142
UCSCiuc002gfa.3 human [Q9BUL5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiPHF23_HUMAN
AccessioniPrimary (citable) accession number: Q9BUL5
Secondary accession number(s): A1DZ74
, B3KVH8, B4DLK6, D3DTN4, Q8IZK0, Q96HG7, Q9H5X0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: June 1, 2001
Last modified: March 28, 2018
This is version 136 of the entry and version 1 of the sequence. See 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