• Gene id: 144165

Gene Summary

• Gene Symbol: PRICKLE1   Gene   UCSC   Ensembl
• Aliases: EPM1B, RILP
• Gene name: prickle planar cell polarity protein 1
• Alternate names: prickle-like protein 1, REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein, REST/NRSF interacting LIM domain protein, REST/NRSF-interacting LIM domain protein 1, prickle homolog 1, prickle-like 1,
• Gene location: 12q12 (42589754: 42456756)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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/
• OMIM: 603853

Protein Summary

• Protein general information: Q96MT3  
  • Name: Prickle like protein 1 (REST/NRSF interacting LIM domain protein 1)
  • Length: 831  
  • Mass: 94300
  • Tissue specificity: Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia). {ECO
• Sequence:

  MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYVNSPGEKHRIKQLLYQ
  LPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHAVCEQCGLKINGGEVAVFASRAGPGVC
  WHPSCFVCFTCNELLVDLIYFYQDGKIHCGRHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVL
  GGQRYIMKDGRPFCCGCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQI
  YCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKFPGLSGNADDTLSRKL
  DDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLLKFGDKSLFQPQPNEMDIRASEHWISDNMVK
  SKTELKQNNQSLASKKYQSDMYWAQSQDGLGDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLS
  DLKPEQSVRDSMDSLALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSS
  ELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRVYNFEERGSRSHHHRR
  RRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSAREIQAYIQNADLYGQYAHATSDYGLQNPGMNR
  FLGLYGEDDDSWCSSSSSSSDSEEEGYFLGQPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKG
  KNCIIS

• Structural information:
  • Protein Domains: (14..12-)
    (/note="PET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00636-)
    (124..18-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (189..24-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-)
  • Interpro: IPR033726  IPR033727  IPR010442  IPR033723  IPR001781  
  • Prosite: PS00478 PS50023 PS51303
  • CDD: cd09418 cd09420 cd09827
  • STRING: ENSP00000345064
• Other Databases: GeneCards:  PRICKLE1  Malacards:  PRICKLE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS	biological process
GO:0001843	neural tube closure	IMP	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060976	coronary vasculature development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035904	aorta development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:2000691	negative regulation of cardiac muscle cell myoblast differentiation	IDA	biological process
GO:0006606	protein import into nucleus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006606	protein import into nucleus	IMP	biological process
GO:0006606	protein import into nucleus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Progressive myoclonic epilepsy	KEGG:H00810
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq