Q7Z3G6 (PRIC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Prickle-like protein 2

Gene names

Name:

PRICKLE2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	844 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus membrane Potential.
Tissue specificity	Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. Ref.3
Involvement in disease	Epilepsy, progressive myoclonic 5 (EPM5) [MIM:613832]: A neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms including cognitive decline and persistent movement abnormalities. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities	Belongs to the prickle / espinas / testin family. Contains 3 LIM zinc-binding domains. Contains 1 PET domain.

Ontologies

Keywords
Cellular component	Membrane Nucleus
Disease	Disease mutation Epilepsy
Domain	LIM domain Repeat
Ligand	Metal-binding Zinc
PTM	Lipoprotein Methylation Phosphoprotein Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	establishment or maintenance of epithelial cell apical/basal polarity Inferred from electronic annotation. Source: Compara neuron projection development Inferred from electronic annotation. Source: Compara
Cellular_component	apicolateral plasma membrane Inferred from electronic annotation. Source: Compara cytoplasm Inferred from direct assay. Source: LIFEdb lateral plasma membrane Inferred from electronic annotation. Source: Compara nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 841	841	Prickle-like protein 2		PRO_0000075891
	Propeptide	842 – 844	3	Removed in mature form Probable		PRO_0000396718
Regions
	Domain	18 – 126	109	PET
	Domain	128 – 193	66	LIM zinc-binding 1
	Domain	193 – 253	61	LIM zinc-binding 2
	Domain	253 – 317	65	LIM zinc-binding 3
	Compositional bias	504 – 510	7	Poly-Glu
	Compositional bias	668 – 730	63	Arg-rich
	Compositional bias	779 – 784	6	Poly-Ser
Amino acid modifications
	Modified residue	92	1	Phosphoserine By similarity
	Modified residue	543	1	Phosphoserine By similarity
	Modified residue	695	1	Phosphoserine By similarity
	Modified residue	731	1	Phosphoserine By similarity
	Modified residue	806	1	Phosphoserine By similarity
	Modified residue	841	1	Cysteine methyl ester Probable
	Lipidation	841	1	S-farnesyl cysteine Ref.4
Natural variations
	Natural variant	148	1	R → H in EPM5; associated with Ile-153; results in increased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. Ref.5		VAR_065582
	Natural variant	153	1	V → I in EPM5; associated with His-148; results in increased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. Ref.5		VAR_065583
	Natural variant	605	1	V → F in EPM5; results in decreased protein activity compared to wild-type; mutant protein is less active in stimulating calcium release compared to wild-type. Ref.5		VAR_065584

Sequences

	Sequence		Length	Mass (Da)
	Q7Z3G6 [UniParc]. Last modified February 1, 2005. Version 2. Checksum: F6BFA6524734B4E7	FASTA	844	95,615
	10 20 30 40 50 60 MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH QYYSCLPEEK 70 80 90 100 110 120 VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE LKLFSSQRKR ENLGRGNVRP 130 140 150 160 170 180 FPVTMTGAIC EQCGGQINGG DIAVFASRAG HGVCWHPPCF VCTVCNELLV DLIYFYQDGK 190 200 210 220 230 240 IYCGRHHAEC LKPRCAACDE IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR 250 260 270 280 290 300 PYCCHCFESL YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK 310 320 330 340 350 360 QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP MLNQHSQLQV 370 380 390 400 410 420 SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP YHYGNKMEQN QTQSPLQLLS 430 440 450 460 470 480 QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ 490 500 510 520 530 540 ESYSDMSSQS FSETRGSIQV PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP 550 560 570 580 590 600 RGSMESLALS NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR 610 620 630 640 650 660 SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA GSKLPGQEGV 670 680 690 700 710 720 RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH LASEREAISR LKDRPPLRAR 730 740 750 760 770 780 EDYDQFMRQR SFQESMGHGS RRDLYGQCPR TVSDLALQNA FGDRWGPYFA EYDWCSTCSS 790 800 810 820 830 840 SSESDNEGYF LGEPIPQPAR LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN CIIS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Cervix.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle." Katoh M., Katoh M. Int. J. Mol. Med. 11:249-256(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
[4]	"Towards complete sets of farnesylated and geranylgeranylated proteins." Maurer-Stroh S., Koranda M., Benetka W., Schneider G., Sirota F.L., Eisenhaber F. PLoS Comput. Biol. 3:634-648(2007) [PubMed] [Europe PMC] [Abstract] Cited for: ISOPRENYLATION AT CYS-841.
[5]	"Mutations in prickle orthologs cause seizures in flies, mice, and humans." Tao H., Manak J.R., Sowers L., Mei X., Kiyonari H., Abe T., Dahdaleh N.S., Yang T., Wu S., Chen S., Fox M.H., Gurnett C., Montine T., Bird T., Shaffer L.G., Rosenfeld J.A., McConnell J., Madan-Khetarpal S. , Berry-Kravis E., Griesbach H., Saneto R.P., Scott M.P., Antic D., Reed J., Boland R., Ehaideb S.N., El-Shanti H., Mahajan V.B., Ferguson P.J., Axelrod J.D., Lehesjoki A.E., Fritzsch B., Slusarski D.C., Wemmie J., Ueno N., Bassuk A.G. Am. J. Hum. Genet. 88:138-149(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EPM5 HIS-148; ILE-153 AND PHE-605, CHARACTERIZATION OF VARIANTS EPM5 HIS-148; ILE-153 AND PHE-605.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL833539 mRNA. No translation available. BX537915 mRNA. Translation: CAD97898.1. BC119002 mRNA. Translation: AAI19003.1.
IPI	IPI00085314.
RefSeq	NP_942559.1. NM_198859.3.
UniGene	Hs.148105.
3D structure databases
ProteinModelPortal	Q7Z3G6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z3G6. 1 interaction.
STRING	9606.ENSP00000295902.
PTM databases
PhosphoSite	Q7Z3G6.
Polymorphism databases
DMDM	85701877.
Proteomic databases
PaxDb	Q7Z3G6.
PRIDE	Q7Z3G6.
Protocols and materials databases
DNASU	166336.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295902; ENSP00000295902; ENSG00000163637.
GeneID	166336.
KEGG	hsa:166336.
UCSC	uc003dmf.3. human.
Organism-specific databases
CTD	166336.
GeneCards	GC03M064079.
H-InvDB	HIX0003421. HIX0021600.
HGNC	HGNC:20340. PRICKLE2.
HPA	HPA035493.
MIM	608501. gene. 613832. phenotype.
neXtProt	NX_Q7Z3G6.
PharmGKB	PA134883144.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG314122.
HOGENOM	HOG000290649.
HOVERGEN	HBG053679.
InParanoid	Q7Z3G6.
KO	K04511.
OMA	FQESLGQ.
OrthoDB	EOG45MN4W.
PhylomeDB	Q7Z3G6.
Gene expression databases
ArrayExpress	Q7Z3G6.
Bgee	Q7Z3G6.
CleanEx	HS_PRICKLE2.
Genevestigator	Q7Z3G6.
GermOnline	ENSG00000163637. Homo sapiens.
Family and domain databases
Gene3D	2.10.110.10. 3 hits.
InterPro	IPR010442. PET_domain. IPR001781. Znf_LIM. [Graphical view]
Pfam	PF00412. LIM. 3 hits. PF06297. PET. 1 hit. [Graphical view]
SMART	SM00132. LIM. 3 hits. [Graphical view]
PROSITE	PS00478. LIM_DOMAIN_1. 2 hits. PS50023. LIM_DOMAIN_2. 3 hits. PS51303. PET. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PRICKLE2. human.
GenomeRNAi	166336.
NextBio	88581.
SOURCE	Search...

Entry information

Entry name

PRIC2_HUMAN

Accession

Primary (citable) accession number: Q7Z3G6
Secondary accession number(s): Q0VF44

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2005
Last sequence update:	February 1, 2005
Last modified:	May 1, 2013
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.