PLAGL1

Protein identityUniProt · HPA

UniProt accession

Q9UM63

Gene

PLAGL1

Ensembl

ENSG00000118495

Chromosome

6

Canonical length

463 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nuclear bodies,Golgi apparatus,Vesicles

OverviewNCBI Gene

This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]

Canonical amino-acid sequenceUniProt

463 residues, UniProt reviewed canonical sequence.

>Q9UM63|PLAGL1
     1  MATFPCQLCG KTFLTLEKFT IHNYSHSRER PYKCVQPDCG KAFVSRYKLM RHMATHSPQK
    61  SHQCAHCEKT FNRKDHLKNH LQTHDPNKMA FGCEECGKKY NTMLGYKRHL ALHAASSGDL
   121  TCGVCALELG STEVLLDHLK AHAEEKPPSG TKEKKHQCDH CERCFYTRKD VRRHLVVHTG
   181  CKDFLCQFCA QRFGRKDHLT RHTKKTHSQE LMKESLQTGD LLSTFHTISP SFQLKAAALP
   241  PFPLGASAQN GLASSLPAEV HSLTLSPPEQ AAQPMQPLPE SLASLHPSVS PGSPPPPLPN
   301  HKYNTTSTSY SPLASLPLKA DTKGFCNISL FEDLPLQEPQ SPQKLNPGFD LAKGNAGKVN
   361  LPKELPADAV NLTIPASLDL SPLLGFWQLP PPATQNTFGN STLALGPGES LPHRLSCLGQ
   421  QQQEPPLAMG TVSLGQLPLP PIPHVFSAGT GSAILPHFHH AFR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLAGL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

232 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLAGL1.

Disease | AllUniProt

Conditions PLAGL1 is implicated in, by any mechanism.

• Diabetes mellitus, transient neonatal, 1 (TNDM1) MIM:601410

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.26

gnomAD pLI

0.98

gnomAD missense Z

1.3

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• regulation of cell cycle
• regulation of cytokine production
• regulation of immune system process

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• zinc ion binding

Cellular components

• Golgi apparatus
• nuclear body
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• Zinc finger, C2H2 type

KeywordsUniProt

• Activator
• Diabetes mellitus
• DNA-binding
• Metal-binding
• Nucleus
• Repeat
• Transcription
• Transcription regulation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of PLAGL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• THRSP