PARD3 par-3 family cell polarity regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARD3provided by HGNC
Official Full Name: par-3 family cell polarity regulatorprovided by HGNC
Primary source: HGNC:HGNC:16051
See related: Ensembl:ENSG00000148498 MIM:606745; AllianceGenome:HGNC:16051
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Baz; ASIP; PAR3; PARD-3; PARD3A; SE2-5T2; PPP1R118; SE2-5L16; SE2-5LT1; PAR3alpha
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]
Expression: Ubiquitous expression in esophagus (RPKM 6.9), skin (RPKM 6.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p11.22-p11.21

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (34109561..34815296, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (34138078..34843839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (34398489..35104224, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DCAF1 interacts with PARD3 to promote hepatocellular carcinoma progression and metastasis by activating the Akt signaling pathway.
Title: DCAF1 interacts with PARD3 to promote hepatocellular carcinoma progression and metastasis by activating the Akt signaling pathway.
PARD3 drives tumorigenesis through activating Sonic Hedgehog signalling in tumour-initiating cells in liver cancer.
Title: PARD3 drives tumorigenesis through activating Sonic Hedgehog signalling in tumour-initiating cells in liver cancer.
Integrative analysis of cancer dependency data and comprehensive phosphoproteomics data revealed the EPHA2-PARD3 axis as a cancer vulnerability in KRAS-mutant colorectal cancer.
Title: Integrative analysis of cancer dependency data and comprehensive phosphoproteomics data revealed the EPHA2-PARD3 axis as a cancer vulnerability in KRAS-mutant colorectal cancer.
Polarity protein Par3 sensitizes breast cancer to paclitaxel by promoting cell cycle arrest.
Title: Polarity protein Par3 sensitizes breast cancer to paclitaxel by promoting cell cycle arrest.
Par-3 family proteins in cell polarity & adhesion.
Title: Par-3 family proteins in cell polarity & adhesion.
The polarity protein Par3 coordinates positively self-renewal and negatively invasiveness in glioblastoma.
Title: The polarity protein Par3 coordinates positively self-renewal and negatively invasiveness in glioblastoma.
Plakophilin 3 and Par3 facilitate desmosomes' association with the apical junctional complex.
Title: Plakophilin 3 and Par3 facilitate desmosomes' association with the apical junctional complex.
Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl.
Title: Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl.
Par3/integrin beta1 regulates embryo adhesion via changing endometrial luminal epithelium polaritydagger.
Title: Par3/integrin β1 regulates embryo adhesion via changing endometrial luminal epithelium polarity†.
High expression of PARD3 predicts poor prognosis in hepatocellular carcinoma.
Title: High expression of PARD3 predicts poor prognosis in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (73)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline genomic variants associated with childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S371 (e-PCR)
- UniSTS:147972

RH45947 (e-PCR)
- UniSTS:39435

RH44685 (e-PCR)
- UniSTS:88593

SHGC-155299 (e-PCR)
- UniSTS:182292

RH120806 (e-PCR)
- UniSTS:132887

D10S1521 (e-PCR)
- UniSTS:153625

SHGC-56725 (e-PCR)
- UniSTS:13088

RH92874 (e-PCR)
- UniSTS:85562

G66764 (e-PCR)
- UniSTS:166714

A008R21 (e-PCR)
- UniSTS:76375

D10S1391E (e-PCR)
- UniSTS:151388

SHGC-144230 (e-PCR)
- UniSTS:174184

SHGC-79047 (e-PCR)
- UniSTS:95874

SHGC-112261 (e-PCR)
- UniSTS:168584

SGC38268 (e-PCR)
- UniSTS:46745

RH124082 (e-PCR)
- UniSTS:134563

RH48447 (e-PCR)
- UniSTS:11184

SHGC-57645 (e-PCR)
- UniSTS:31933

RH118535 (e-PCR)
- UniSTS:137932

RH119633 (e-PCR)
- UniSTS:138213

RH120125 (e-PCR)
- UniSTS:132330

SHGC-83328 (e-PCR)
- UniSTS:95984

D10S355 (e-PCR)
- UniSTS:147966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in asymmetric cell division	TAS Traceable Author Statement more info	PubMed
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in bicellular tight junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of centrosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of epithelial cell polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment or maintenance of cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination in peripheral nervous system	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of peptidyl-threonine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of PAR polarity complex	IPI Inferred from Physical Interaction more info	PubMed
part_of PAR polarity complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical junction complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell junction	TAS Traceable Author Statement more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in internode region of axon	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in tight junction	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: partitioning defective 3 homolog

Names: CTCL tumor antigen se2-5; PAR3-alpha; atypical PKC isotype-specific interacting protein; bazooka; par-3 family cell polarity regulator alpha; par-3 partitioning defective 3 homolog; protein phosphatase 1, regulatory subunit 118

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052602.2 RefSeqGene

Range

5000..710735

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001184785.2 → NP_001171714.1 partitioning defective 3 homolog isoform 2

See identical proteins and their annotated locations for NP_001171714.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different splice site, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1. This variant has also been called the 'long variant' and 'variant b'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53515.1

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000363920.3, ENST00000374788.8

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184786.2 → NP_001171715.1 partitioning defective 3 homolog isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate, in-frame segment and uses a different splice site, in the coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53511.1

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000443147.1, ENST00000545693.5

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184787.2 → NP_001171716.1 partitioning defective 3 homolog isoform 4

See identical proteins and their annotated locations for NP_001171716.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate, in-frame segment in the coding region, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1. This variant has also been called 'variant d'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53514.1

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000340591.4, ENST00000346874.9

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184788.2 → NP_001171717.1 partitioning defective 3 homolog isoform 5

See identical proteins and their annotated locations for NP_001171717.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate, in-frame segment and uses two different splice sites, in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1. This variant has also been called 'variant f'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53512.1

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000311986.6, ENST00000350537.9

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184789.2 → NP_001171718.1 partitioning defective 3 homolog isoform 6

See identical proteins and their annotated locations for NP_001171718.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two alternate, in-frame segments and uses two different splice sites, in the coding region, compared to variant 1. The resulting protein (isoform 6) is shorter when it is compared to isoform 1. This variant has also been called 'long variant b'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

UniProtKB/TrEMBL

Q5VWV2

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184790.2 → NP_001171719.1 partitioning defective 3 homolog isoform 7

See identical proteins and their annotated locations for NP_001171719.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks two alternate, in-frame segments and uses two different splice sites, in the coding region, compared to variant 1. The resulting protein (isoform 7) is shorter when it is compared to isoform 1. This variant has also been called 'variant c'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53510.1

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000440857.1, ENST00000545260.5

Conserved Domains (2) summary

cd00992
Location:421 → 500

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184791.2 → NP_001171720.1 partitioning defective 3 homolog isoform 8

See identical proteins and their annotated locations for NP_001171720.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks four alternate, in-frame segments and uses a different splice site, in the coding region, compared to variant 1. The resulting protein (isoform 8) is shorter when it is compared to isoform 1. This variant has also been called 'variant e'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53509.1

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000363926.3, ENST00000374794.8

Conserved Domains (2) summary

cd00992
Location:421 → 500

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184792.2 → NP_001171721.1 partitioning defective 3 homolog isoform 9

See identical proteins and their annotated locations for NP_001171721.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses a different splice site, lacks most of the 3' coding region, and contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform 9) is shorter and has a distinct C-terminus when it is compared to isoform 1. This variant has also been called the 'short variant'.

Source sequence(s)

AL138768, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53516.1

UniProtKB/TrEMBL

Q5VWU8

Related

ENSP00000341844.5, ENST00000340077.9

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184793.2 → NP_001171722.1 partitioning defective 3 homolog isoform 10

See identical proteins and their annotated locations for NP_001171722.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) uses three different splice sites, lacks most of the 3' coding region, and contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform 10) is shorter and has a distinct C-terminus when it is compared to isoform 1.

Source sequence(s)

AL138768, AL360233, AL390766, AL392123, AL450337

UniProtKB/TrEMBL

Q5VWU8

Related

ENSP00000363905.1, ENST00000374773.6

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_001184794.2 → NP_001171723.1 partitioning defective 3 homolog isoform 11

See identical proteins and their annotated locations for NP_001171723.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks an alternate, in-frame, exon, uses two different splice sites, lacks most of the 3' coding region, and contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform 11) is shorter and has a distinct C-terminus when it is compared to isoform 1. This variant has also been called 'short variant b'.

Source sequence(s)

AL138768, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS53513.1

UniProtKB/TrEMBL

Q5VWU8

Related

ENSP00000363908.1, ENST00000374776.6

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)
NM_019619.4 → NP_062565.2 partitioning defective 3 homolog isoform 1

See identical proteins and their annotated locations for NP_062565.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1). This variant has also been called 'variant a'.

Source sequence(s)

AL138768, AL160409, AL360233, AL390766, AL392123, AL450337

Consensus CDS

CCDS7178.1

UniProtKB/Swiss-Prot

F5H5T0, Q5T2U1, Q5VUA2, Q5VUA3, Q5VWV0, Q5VWV1, Q5VWV3, Q5VWV4, Q5VWV5, Q6IQ47, Q8TCZ9, Q8TEW0, Q8TEW1, Q8TEW2, Q8TEW3, Q96K28, Q96RM6, Q96RM7, Q9BY57, Q9BY58, Q9HC48, Q9NWL4, Q9NYE6

UniProtKB/TrEMBL

Q5VWV2

Related

ENSP00000363921.3, ENST00000374789.8

Conserved Domains (2) summary

cd00992
Location:465 → 544

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 146

DUF3534; Domain of unknown function (DUF3534)