Seroatlas · Human Serome Atlas

PRICKLE1

Prickle-like protein 1

Also known as: EPM1B, FLJ31937, PRIC1_HUMAN, RILP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96MT3
Gene
PRICKLE1
Ensembl
ENSG00000139174
Chromosome
12
Canonical length
831 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

831 residues, UniProt reviewed canonical sequence.

>Q96MT3|PRICKLE1
     1  MPLEMEPKMS KLAFGCQRSS TSDDDSGCAL EEYAWVPPGL RPEQIQLYFA CLPEEKVPYV
    61  NSPGEKHRIK QLLYQLPPHD NEVRYCQSLS EEEKKELQVF SAQRKKEALG RGTIKLLSRA
   121  VMHAVCEQCG LKINGGEVAV FASRAGPGVC WHPSCFVCFT CNELLVDLIY FYQDGKIHCG
   181  RHHAELLKPR CSACDEIIFA DECTEAEGRH WHMKHFCCLE CETVLGGQRY IMKDGRPFCC
   241  GCFESLYAEY CETCGEHIGV DHAQMTYDGQ HWHATEACFS CAQCKASLLG CPFLPKQGQI
   301  YCSKTCSLGE DVHASDSSDS AFQSARSRDS RRSVRMGKSS RSADQCRQSL LLSPALNYKF
   361  PGLSGNADDT LSRKLDDLSL SRQGTSFASE EFWKGRVEQE TPEDPEEWAD HEDYMTQLLL
   421  KFGDKSLFQP QPNEMDIRAS EHWISDNMVK SKTELKQNNQ SLASKKYQSD MYWAQSQDGL
   481  GDSAYGSHPG PASSRRLQEL ELDHGASGYN HDETQWYEDS LECLSDLKPE QSVRDSMDSL
   541  ALSNITGASV DGENKPRPSL YSLQNFEEME TEDCEKMSNM GTLNSSMLHR SAESLKSLSS
   601  ELCPEKILPE EKPVHLPVLR RSKSQSRPQQ VKFSDDVIDN GNYDIEIRQP PMSERTRRRV
   661  YNFEERGSRS HHHRRRRSRK SRSDNALNLV TERKYSPKDR LRLYTPDNYE KFIQNKSARE
   721  IQAYIQNADL YGQYAHATSD YGLQNPGMNR FLGLYGEDDD SWCSSSSSSS DSEEEGYFLG
   781  QPIPQPRPQR FAYYTDDLSS PPSALPTPQF GQRTTKSKKK KGHKGKNCII S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRICKLE1 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)
0.57
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 14 nTPM
  • heart muscle: 13 nTPM
  • cerebral cortex: 12 nTPM
  • smooth muscle: 12 nTPM
  • cervix: 12 nTPM
  • endometrium: 11 nTPM

Single-cell type

  • fibro-adipogenic progenitors: 571 nCPM
  • retinal ganglion cells: 413 nCPM
  • endometrial stromal cells: 297 nCPM
  • corticotrophs: 245 nCPM
  • brain excitatory neurons: 242 nCPM
  • retinal bipolar cells: 228 nCPM

Immune cell

  • naive B-cell: 12 nTPM
  • memory B-cell: 7.7 nTPM
  • basophil: 4 nTPM
  • neutrophil: 2.2 nTPM
  • classical monocyte: 1.8 nTPM
  • plasmacytoid DC: 1.6 nTPM

Brain region

  • cerebral cortex: 47 nTPM
  • hippocampal formation: 39 nTPM
  • thalamus: 39 nTPM
  • basal ganglia: 38 nTPM
  • white matter: 34 nTPM
  • amygdala: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRICKLE1.

Disease | AllUniProt

Conditions PRICKLE1 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 625 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Epilepsy, progressive myoclonic, 1B

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)
0.13
gnomAD pLI
1
gnomAD missense Z
1.83
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRICKLE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PRICKLE1 as an antibody target. Whether an autoantibody or antibody against PRICKLE1 could matter depends on whether native PRICKLE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRICKLE1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PRICKLE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PRICKLE1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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