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

Gene ID: 56288, updated on 25-Nov-2021

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
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
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Genomic context

See PARD3 in Genome Data Viewer
Location:
10p11.22-p11.21
Exon count:
26
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (34109561..34815296, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (34398489..35104224, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23 pseudogene 11 Neighboring gene long intergenic non-protein coding RNA 2629 Neighboring gene tRNA-Leu (CAA) 7-1 Neighboring gene elongin B pseudogene 4 Neighboring gene ribosomal protein L37 pseudogene 18 Neighboring gene ribosomal protein S12 pseudogene 16 Neighboring gene PARD3 divergent transcript Neighboring gene SS18 like 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population.
GeneReviews: Not available
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
GeneReviews: Not available
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
GeneReviews: Not available
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21015

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment of centrosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in establishment or maintenance of epithelial cell apical/basal polarity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 positive regulation of myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein kinase C-activating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in apical junction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
 

General protein information

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)

NEW Try the new Transcript table

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

  1. NG_052602.1 RefSeqGene

    Range
    5001..710766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184785.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000363920.3, ENST00000374788.8
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  2. NM_001184786.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000443147.1, ENST00000545693.5
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  3. NM_001184787.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000340591.4, ENST00000346874.9
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  4. NM_001184788.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000311986.6, ENST00000350537.9
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  5. NM_001184789.2NP_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/Swiss-Prot
    Q8TEW0
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  6. NM_001184790.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000440857.1, ENST00000545260.5
    Conserved Domains (2) summary
    cd00992
    Location:421500
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  7. NM_001184791.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000363926.3, ENST00000374794.8
    Conserved Domains (2) summary
    cd00992
    Location:421500
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  8. NM_001184792.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000341844.5, ENST00000340077.9
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  9. NM_001184793.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000363905.1, ENST00000374773.6
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  10. NM_001184794.2NP_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/Swiss-Prot
    Q8TEW0
    Related
    ENSP00000363908.1, ENST00000374776.6
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)
  11. NM_019619.4NP_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
    Q8TEW0
    Related
    ENSP00000363921.3, ENST00000374789.8
    Conserved Domains (2) summary
    cd00992
    Location:465544
    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:1146
    DUF3534; Domain of unknown function (DUF3534)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    34109561..34815296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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