PARD3 (par-3 family cell polarity regulator)

Gene

• Entrez ID: 56288
• Gene name: Par-3 family cell polarity regulator
• Gene symbol: PARD3
• Synonyms: ASIP, Baz, PAR3, PAR3alpha, PARD-3, PARD3A, PPP1R118, SE2-5L16, SE2-5LT1, SE2-5T2
• Chromosome: 10
• Chromosome location: 10p11.22-p11.21
• Summary: This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199923448	C>A,T	Risk-factor, uncertain-significance	Coding sequence variant, missense variant
rs557643577	A>G	Risk-factor	Intron variant
rs757259023	C>T	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant
rs762921297	T>A	Risk-factor	Coding sequence variant, intron variant, missense variant
rs781461462	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs1114167354	T>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006686	hsa-miR-483-3p	qRT-PCR, Western blot	22101077
MIRT038900	hsa-miR-93-3p	CLASH	23622248
MIRT039030	hsa-miR-766-3p	CLASH	23622248
MIRT440043	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT692509	hsa-miR-4503	HITS-CLIP	23313552
MIRT692510	hsa-miR-6839-3p	HITS-CLIP	23313552
MIRT692511	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT692512	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT692513	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT692514	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT692515	hsa-miR-6792-5p	HITS-CLIP	23313552
MIRT692516	hsa-miR-629-5p	HITS-CLIP	23313552
MIRT692517	hsa-miR-3194-3p	HITS-CLIP	23313552
MIRT692518	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT692519	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT692520	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT692521	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT692522	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT692523	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT692524	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT692525	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT692526	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT692527	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT692528	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT692529	hsa-miR-5095	HITS-CLIP	23313552
MIRT692530	hsa-miR-2861	HITS-CLIP	23313552
MIRT692531	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT692532	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT692533	hsa-miR-661	HITS-CLIP	23313552
MIRT692534	hsa-miR-3116	HITS-CLIP	23313552
MIRT692535	hsa-miR-1254	HITS-CLIP	23313552
MIRT692536	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT692537	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT692538	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT692539	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT692540	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT692541	hsa-miR-520h	HITS-CLIP	23313552
MIRT692542	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT692543	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT692544	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT692545	hsa-miR-4438	HITS-CLIP	23313552
MIRT692546	hsa-miR-520e	HITS-CLIP	23313552
MIRT692547	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT692548	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT692549	hsa-miR-520b	HITS-CLIP	23313552
MIRT692550	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT692551	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT692552	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT692553	hsa-miR-302e	HITS-CLIP	23313552
MIRT692554	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT692555	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT692556	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT692557	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT692558	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT692559	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT692560	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT692561	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT692562	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT692563	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT692564	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT692565	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT783240	hsa-miR-1261	HITS-CLIP	27418678
MIRT783557	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT784840	hsa-miR-3201	HITS-CLIP	27418678
MIRT786783	hsa-miR-4791	HITS-CLIP	27418678
MIRT786938	hsa-miR-5004-3p	HITS-CLIP	27418678
MIRT789572	hsa-miR-7850-5p	HITS-CLIP	27418678
MIRT789793	hsa-miR-8068	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10934474, 11257119, 14676191, 15161933, 15254234, 17057644, 17979178, 18838552, 19893486, 22579248, 22653443, 25241761, 26496610, 26766442, 28514442, 31980649
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	20332120
GO:0005911	Component	Cell-cell junction	ISS
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005923	Component	Bicellular tight junction	IDA	14676191, 22006950
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005938	Component	Cell cortex	IBA	21873635
GO:0006612	Process	Protein targeting to membrane	ISS
GO:0007049	Process	Cell cycle	IEA
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	14676191
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS
GO:0007205	Process	Protein kinase C-activating G protein-coupled receptor signaling pathway	TAS	11260256
GO:0007409	Process	Axonogenesis	TAS	14676191
GO:0008104	Process	Protein localization	IBA	21873635
GO:0008356	Process	Asymmetric cell division	TAS	10934474
GO:0010801	Process	Negative regulation of peptidyl-threonine phosphorylation	ISS
GO:0012505	Component	Endomembrane system	IEA
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0022011	Process	Myelination in peripheral nervous system	ISS
GO:0030010	Process	Establishment of cell polarity	IBA	21873635
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	TAS
GO:0031643	Process	Positive regulation of myelination	ISS
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0033269	Component	Internode region of axon	ISS
GO:0035091	Function	Phosphatidylinositol binding	IBA	21873635
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043296	Component	Apical junction complex	IBA	21873635
GO:0044295	Component	Axonal growth cone	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA	21873635
GO:0051660	Process	Establishment of centrosome localization	IBA	21873635
GO:0060341	Process	Regulation of cellular localization	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	10934474
GO:0070830	Process	Bicellular tight junction assembly	ISS
GO:0070830	Process	Bicellular tight junction assembly	TAS
GO:0090162	Process	Establishment of epithelial cell polarity	ISS

Other IDs

• MIM: 606745
• HGNC: 16051
• e!Ensembl: ENSG00000148498

Protein

• UniProt ID: Q8TEW0
• Protein name: Partitioning defective 3 homolog (PAR-3) (PARD-3) (Atypical PKC isotype-specific-interacting protein) (ASIP) (CTCL tumor antigen se2-5) (PAR3-alpha)
• Protein function: Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:27925688, PubMed:10954424). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10934474). Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons (PubMed:19812038, PubMed:27925688).
• PDB: 2KOM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12053	Par3_HAL_N_term	1 → 83	N-terminal of Par3 and HAL proteins	Family
  PF00595	PDZ	461 → 545	PDZ domain	Domain
  PF00595	PDZ	590 → 680	PDZ domain	Domain

• Sequence:

  MKVTVCFGRTRVVVPCGDGHMKVFSLIQQAVTRYRKAIAKDPNYWIQVHRLEHGDGGILD
  LDDILCDVADDKDRLVAVFDEQDPHHGGDGTSASSTGTQSPEIFGSELGTNNVSAFQPYQ
  ATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFL
  KQNTAGSPKTCDRKKDENYRSLPRDTSNWSNQFQRDNARSSLSASHPMVGKWLEKQEQDE
  DGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLG
  LLVKRLEKGGKAEHENLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPA
  ANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSR
  LPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDV
  TIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQEEVVSLLRSTKMEGTV
  SLLVFRQEDAFHPRELNAEPSQMQIPKETKAEDEDIVLTPDGTREFLTFEVPLNDSGSAG
  LGVSVKGNRSKENHADLGIFVKSIINGGAASKDGRLRVNDQLIAVNGESLLGKTNQDAME
  TLRRSMSTEGNKRGMIQLIVARRISKCNELKSPGSPPGPELPIETALDDRERRISHSLYS
  GIEGLDESPSRNAALSRIMGESGKYQLSPTVNMPQDDTVIIEDDRLPVLPPHLSDQSSSS
  SHDDVGFVTADAGTWAKAAISDSADCSLSPDVDPVLAFQREGFGRQSMSEKRTKQFSDAS
  QLDFVKTRKSKSMDLGIADETKLNTVDDQKAGSPSRDVGPSLGLKKSSSLESLQTAVAEV
  TLNGDIPFHRPRPRIIRGRGCNESFRAAIDKSYDKPAVDDDDEGMETLEEDTEESSRSGR
  ESVSTASDQPSHSLERQMNGNQEKGDKTDRKKDKTGKEKKKDRDKEKDKMKAKKGMLKGL
  GDMFRFGKHRKDDKIEKTGKIKIQESFTSEEERIRMKQEQERIQAKTREFRERQARERDY
  AEIQDFHRTFGCDDELMYGGVSSYEGSMALNARPQSPREGHMMDALYAQVKKPRNSKPSP
  VDSNRSTPSNHDRIQRLRQEFQQAKQDEDVEDRRRTYSFEQPWPNARPATQSGRHSVSVE
  VQMQRQRQEERESSQQAQRQYSSLPRQSRKNASSVSQDSWEQNYSPGEGFQSAKENPRYS
  SYQGSRNGYLGGHGFNARVMLETQELLRQEQRRKEQQMKKQPPSEGPSNYDSYKKVQDPS
  YAPPKGPFRQDVPPSPSQVARLNRLQTPEKGRPFYS

• Sequence length: 1356