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

    Gene ID: 56288, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PARD3 in Genome Data Viewer
    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_000010.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:34166034-34167233 Neighboring gene ribosomal protein L23 pseudogene 11 Neighboring gene long intergenic non-protein coding RNA 2629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:34318619-34319118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:34331971-34332472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:34465469-34465970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:34471859-34472575 Neighboring gene Sharpr-MPRA regulatory region 2386 Neighboring gene tRNA-Leu (CAA) 7-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:34641233-34641969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3253 Neighboring gene MPRA-validated peak925 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:34715861-34717060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:34773554-34774054 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:34774055-34774555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:34777721-34778257 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:34814928-34815683 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:34817074-34817649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3254 Neighboring gene elongin B pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 15357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2293 Neighboring gene ribosomal protein L37 pseudogene 18 Neighboring gene ribosomal protein S12 pseudogene 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:35026216-35026716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:35067774-35068274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:35068275-35068775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:35081214-35081916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:35081917-35082619 Neighboring gene Sharpr-MPRA regulatory region 397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2296 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21015

    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

    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_052602.2 RefSeqGene

      Range
      5000..710735
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWV2
      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/TrEMBL
      Q5VWU8
      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/TrEMBL
      Q5VWU8
      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/TrEMBL
      Q5VWU8
      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
      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: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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      34138078..34843839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)