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Protein

Pleckstrin homology-like domain family A member 2

Gene

PHLDA2

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

Functioni

Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology-like domain family A member 2
Alternative name(s):
Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein
Imprinted in placenta and liver protein
Tumor-suppressing STF cDNA 3 protein
Tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein
p17-Beckwith-Wiedemann region 1 C
Short name:
p17-BWR1C
Gene namesi
Name:PHLDA2
Synonyms:BWR1C, HLDA2, IPL, TSSC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12385. PHLDA2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi7262.
OpenTargetsiENSG00000181649.
ENSG00000274538.
PharmGKBiPA37053.

Polymorphism and mutation databases

BioMutaiPHLDA2.
DMDMi84029394.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539001 – 152Pleckstrin homology-like domain family A member 2Add BLAST152

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphoserineCombined sources1
Modified residuei42PhosphoserineCombined sources1
Modified residuei141PhosphoserineCombined sources1
Modified residuei144PhosphoserineCombined sources1
Modified residuei151PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ53GA4.
MaxQBiQ53GA4.
PaxDbiQ53GA4.
PeptideAtlasiQ53GA4.
PRIDEiQ53GA4.

PTM databases

iPTMnetiQ53GA4.
PhosphoSitePlusiQ53GA4.

Expressioni

Tissue specificityi

Expressed in placenta and adult prostate gland. In placenta, it is present in all cells of the villous cytotrophoblast. The protein is absent in cells from hydatidiform moles. Hydatidiform mole is a gestation characterized by abnormal development of both fetus and trophoblast. The majority of hydatidiform moles are associated with an excess of paternal to maternal genomes and are likely to result from the abnormal expression of imprinted genes (at protein level). Expressed at low levels in adult liver and lung, and fetal liver. Expressed in adult brain and neuroblastoma, medullablastoma and glioblastoma cell lines.5 Publications

Inductioni

Maternal PHLDA2 allele is activated, while paternal Phlda2 is repressed due to genomic imprinting. Down-regulated by hypoxia. Although highly similar to PHLDA3 protein, it is not regulated by p53/TP53.2 Publications

Gene expression databases

BgeeiENSG00000181649.
CleanExiHS_PHLDA2.
GenevisibleiQ53GA4. HS.

Organism-specific databases

HPAiHPA003994.

Interactioni

Protein-protein interaction databases

BioGridi113113. 3 interactors.
IntActiQ53GA4. 5 interactors.
STRINGi9606.ENSP00000319231.

Structurei

3D structure databases

ProteinModelPortaliQ53GA4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 99PHAdd BLAST93

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi126 – 133Poly-Ala8

Domaini

The PH domain binds phosphoinositides with a broad specificity. It may compete with the PH domain of some other proteins, thereby interfering with their binding to phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (By similarity).By similarity

Sequence similaritiesi

Belongs to the PHLDA2 family.Curated
Contains 1 PH domain.Curated

Phylogenomic databases

eggNOGiENOG410IZC3. Eukaryota.
ENOG4111IXF. LUCA.
GeneTreeiENSGT00440000039564.
HOGENOMiHOG000115528.
HOVERGENiHBG052730.
InParanoidiQ53GA4.
OMAiKKVDCVE.
OrthoDBiEOG091G0RST.
PhylomeDBiQ53GA4.
TreeFamiTF332320.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.

Sequencei

Sequence statusi: Complete.

Q53GA4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKSPDEVLRE GELEKRSDSL FQLWKKKRGV LTSDRLSLFP ASPRARPKEL
60 70 80 90 100
RFHSILKVDC VERTGKYVYF TIVTTDHKEI DFRCAGESCW NAAIALALID
110 120 130 140 150
FQNRRALQDF RSRQERTAPA APAEDAVAAA AAAPSEPSEP SRPSPQPKPR

TP
Length:152
Mass (Da):17,092
Last modified:December 20, 2005 - v2
Checksum:i3A1168CBB859FC3B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24W → R in BAD96747 (Ref. 5) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019953 mRNA. Translation: AAC51912.1.
AF001294 mRNA. Translation: AAB86680.1.
AF035444 mRNA. Translation: AAC17458.1.
CR407664 mRNA. Translation: CAG28592.1.
AK223027 mRNA. Translation: BAD96747.1.
BC005034 mRNA. Translation: AAH05034.1.
CCDSiCCDS7741.1.
RefSeqiNP_003302.1. NM_003311.3.
UniGeneiHs.154036.

Genome annotation databases

EnsembliENST00000314222; ENSP00000319231; ENSG00000181649.
ENST00000618418; ENSP00000483602; ENSG00000274538.
GeneIDi7262.
KEGGihsa:7262.
UCSCiuc001lxa.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019953 mRNA. Translation: AAC51912.1.
AF001294 mRNA. Translation: AAB86680.1.
AF035444 mRNA. Translation: AAC17458.1.
CR407664 mRNA. Translation: CAG28592.1.
AK223027 mRNA. Translation: BAD96747.1.
BC005034 mRNA. Translation: AAH05034.1.
CCDSiCCDS7741.1.
RefSeqiNP_003302.1. NM_003311.3.
UniGeneiHs.154036.

3D structure databases

ProteinModelPortaliQ53GA4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113113. 3 interactors.
IntActiQ53GA4. 5 interactors.
STRINGi9606.ENSP00000319231.

PTM databases

iPTMnetiQ53GA4.
PhosphoSitePlusiQ53GA4.

Polymorphism and mutation databases

BioMutaiPHLDA2.
DMDMi84029394.

Proteomic databases

EPDiQ53GA4.
MaxQBiQ53GA4.
PaxDbiQ53GA4.
PeptideAtlasiQ53GA4.
PRIDEiQ53GA4.

Protocols and materials databases

DNASUi7262.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314222; ENSP00000319231; ENSG00000181649.
ENST00000618418; ENSP00000483602; ENSG00000274538.
GeneIDi7262.
KEGGihsa:7262.
UCSCiuc001lxa.2. human.

Organism-specific databases

CTDi7262.
DisGeNETi7262.
GeneCardsiPHLDA2.
HGNCiHGNC:12385. PHLDA2.
HPAiHPA003994.
MIMi602131. gene.
neXtProtiNX_Q53GA4.
OpenTargetsiENSG00000181649.
ENSG00000274538.
PharmGKBiPA37053.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZC3. Eukaryota.
ENOG4111IXF. LUCA.
GeneTreeiENSGT00440000039564.
HOGENOMiHOG000115528.
HOVERGENiHBG052730.
InParanoidiQ53GA4.
OMAiKKVDCVE.
OrthoDBiEOG091G0RST.
PhylomeDBiQ53GA4.
TreeFamiTF332320.

Miscellaneous databases

GeneWikiiPHLDA2.
GenomeRNAii7262.
PROiQ53GA4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181649.
CleanExiHS_PHLDA2.
GenevisibleiQ53GA4. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPHLA2_HUMAN
AccessioniPrimary (citable) accession number: Q53GA4
Secondary accession number(s): O00496
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: December 20, 2005
Last modified: November 30, 2016
This is version 102 of the entry and version 2 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

Miscellaneous

The PHLDA2 locus is imprinted. Loss of imprinting results in overexpression. Imprinting is dependent on RNAi machinery.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.