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Aliases for PDLIM5 Gene

Aliases for PDLIM5 Gene

  • PDZ And LIM Domain 5 2 3
  • ENH 3 4 6
  • Enigma-Like PDZ And LIM Domains Protein 3 4
  • Enigma Homolog 3 4
  • Enigma-Like LIM Domain Protein 3
  • PDZ And LIM Domain Protein 5 3
  • ENH1 3
  • LIM 3
  • L9 3

External Ids for PDLIM5 Gene

Summaries for PDLIM5 Gene

Entrez Gene Summary for PDLIM5 Gene

  • This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

GeneCards Summary for PDLIM5 Gene

PDLIM5 (PDZ And LIM Domain 5) is a Protein Coding gene. Diseases associated with PDLIM5 include nail-patella syndrome and barth syndrome. GO annotations related to this gene include actin binding and actinin binding. An important paralog of this gene is LDB3.

UniProtKB/Swiss-Prot for PDLIM5 Gene

  • May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity).

Gene Wiki entry for PDLIM5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDLIM5 Gene

Genomics for PDLIM5 Gene

Genomic Location for PDLIM5 Gene

Start:
94,451,857 bp from pter
End:
94,668,227 bp from pter
Size:
216,371 bases
Orientation:
Plus strand

Genomic View for PDLIM5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDLIM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDLIM5 Gene

Regulatory Elements for PDLIM5 Gene

Transcription factor binding sites by QIAGEN in the PDLIM5 gene promoter:

Proteins for PDLIM5 Gene

  • Protein details for PDLIM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HC4-PDLI5_HUMAN
    Recommended name:
    PDZ and LIM domain protein 5
    Protein Accession:
    Q96HC4
    Secondary Accessions:
    • A8K6F9
    • D6RB78
    • E9PBF5
    • O60705
    • Q56VN4
    • Q5UW38
    • Q8WVK0

    Protein attributes for PDLIM5 Gene

    Size:
    596 amino acids
    Molecular mass:
    63945 Da
    Quaternary structure:
    • Interacts with various PKC isoforms through the LIM domains. Interacts (via LIM domains) with SIPA1L1. Interacts (via PDZ domain) with actin and ACTN1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PDLIM5 Gene

    Alternative splice isoforms for PDLIM5 Gene

neXtProt entry for PDLIM5 Gene

Proteomics data for PDLIM5 Gene at MOPED

Post-translational modifications for PDLIM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDLIM5 Gene

Domains for PDLIM5 Gene

Protein Domains for PDLIM5 Gene

UniProtKB/Swiss-Prot:

PDLI5_HUMAN
Domain:
  • Contains 3 LIM zinc-binding domains.:
    • Q96HC4
  • Contains 1 PDZ (DHR) domain.:
    • Q96HC4
genes like me logo Genes that share domains with PDLIM5: view

No data available for Gene Families for PDLIM5 Gene

Function for PDLIM5 Gene

Molecular function for PDLIM5 Gene

UniProtKB/Swiss-Prot Function: May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity).

Gene Ontology (GO) - Molecular Function for PDLIM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005080 protein kinase C binding ISS --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0042805 actinin binding ISS --
genes like me logo Genes that share ontologies with PDLIM5: view
genes like me logo Genes that share phenotypes with PDLIM5: view

Animal Models for PDLIM5 Gene

MGI Knock Outs for PDLIM5:

miRNA for PDLIM5 Gene

miRTarBase miRNAs that target PDLIM5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PDLIM5 Gene

Localization for PDLIM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDLIM5 Gene

Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse, synaptosome. Cytoplasm. Note=Detected both at presynaptic and postsynaptic sites. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDLIM5 Gene COMPARTMENTS Subcellular localization image for PDLIM5 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PDLIM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol ISS --
GO:0014069 postsynaptic density ISS --
GO:0015629 actin cytoskeleton IDA --
GO:0016020 membrane ISS --
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with PDLIM5: view

Pathways for PDLIM5 Gene

SuperPathways for PDLIM5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDLIM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051963 regulation of synapse assembly ISS --
GO:0061001 regulation of dendritic spine morphogenesis ISS --
genes like me logo Genes that share ontologies with PDLIM5: view

No data available for Pathways by source for PDLIM5 Gene

Compounds for PDLIM5 Gene

(7) Novoseek inferred chemical compound relationships for PDLIM5 Gene

Compound -log(P) Hits PubMed IDs
zinc 43.7 15
tyrosine 24.3 2
threonine 6.18 2
calcium 0 3
histidine 0 1
genes like me logo Genes that share compounds with PDLIM5: view

Transcripts for PDLIM5 Gene

Unigene Clusters for PDLIM5 Gene

PDZ and LIM domain 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDLIM5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:
SP6: - - -

Relevant External Links for PDLIM5 Gene

GeneLoc Exon Structure for
PDLIM5
ECgene alternative splicing isoforms for
PDLIM5

Expression for PDLIM5 Gene

mRNA expression in normal human tissues for PDLIM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDLIM5 Gene

This gene is overexpressed in Heart - Left Ventricle (7.6), Muscle - Skeletal (7.4), and Heart - Atrial Appendage (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDLIM5 Gene

SOURCE GeneReport for Unigene cluster for PDLIM5 Gene Hs.480311

mRNA Expression by UniProt/SwissProt for PDLIM5 Gene

Q96HC4-PDLI5_HUMAN
Tissue specificity: Heart and skeletal muscle specific. Expression is commonly increased in the brain of patients with bipolar disorder, schizophrenia, and major depression.
genes like me logo Genes that share expressions with PDLIM5: view

Orthologs for PDLIM5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDLIM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDLIM5 36
  • 99.44 (n)
  • 98.83 (a)
PDLIM5 37
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDLIM5 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDLIM5 36
  • 92 (n)
  • 91.61 (a)
PDLIM5 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdlim5 36
  • 86.24 (n)
  • 89.17 (a)
Pdlim5 16
Pdlim5 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDLIM5 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDLIM5 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdlim5 36
  • 86.35 (n)
  • 88.49 (a)
chicken
(Gallus gallus)
Aves PDLIM5 36
  • 75.18 (n)
  • 72.74 (a)
PDLIM5 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDLIM5 37
  • 57 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2356 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pdlim5 36
  • 70.18 (n)
  • 71.23 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7740 36
zebrafish
(Danio rerio)
Actinopterygii pdlim5a 36
  • 62.09 (n)
  • 61.47 (a)
pdlim5a 37
  • 51 (a)
OneToMany
pdlim5b 37
  • 46 (a)
OneToMany
zgc56116 36
fruit fly
(Drosophila melanogaster)
Insecta Zasp52 37
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alp-1 37
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
ManyToMany
-- 37
  • 36 (a)
ManyToMany
Species with no ortholog for PDLIM5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDLIM5 Gene

ENSEMBL:
Gene Tree for PDLIM5 (if available)
TreeFam:
Gene Tree for PDLIM5 (if available)

Paralogs for PDLIM5 Gene

Paralogs for PDLIM5 Gene

genes like me logo Genes that share paralogs with PDLIM5: view

Variants for PDLIM5 Gene

Sequence variations from dbSNP and Humsavar for PDLIM5 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs3943 -- 94,666,924(-) GGAAA(C/T)AGAGA utr-variant-3-prime
rs7285 -- 94,668,186(+) AATGT(A/G)CACAT utr-variant-3-prime
rs10590 -- 94,665,128(+) CCTTG(C/T)GCTAA utr-variant-3-prime, intron-variant
rs12294 -- 94,667,523(-) AACCT(A/G)TGCAC utr-variant-3-prime
rs14082 -- 94,665,073(+) TTTCT(A/G)TTCAT utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDLIM5 Gene

Variant ID Type Subtype PubMed ID
esv274400 CNV Insertion 20981092
esv270916 CNV Insertion 20981092
esv273051 CNV Insertion 20981092
esv2492606 CNV Deletion 19546169
esv2304226 CNV Deletion 18987734
esv4831 CNV Deletion 18987735
esv2727990 CNV Deletion 23290073
esv2451649 CNV Deletion 19546169
esv6075 CNV Loss 19470904
esv991897 CNV Deletion 20482838
esv1135092 CNV Deletion 17803354

Relevant External Links for PDLIM5 Gene

HapMap Linkage Disequilibrium report
PDLIM5
Human Gene Mutation Database (HGMD)
PDLIM5

Disorders for PDLIM5 Gene

(1) University of Copenhagen DISEASES for PDLIM5 Gene

(16) Novoseek inferred disease relationships for PDLIM5 Gene

Disease -log(P) Hits PubMed IDs
nail-patella syndrome 56.6 2
t-all 48.2 1
bipolar disorder 37.7 19
leukemia t-cell 24.2 1
breast cancer 12.2 8

Relevant External Links for PDLIM5

Genetic Association Database (GAD)
PDLIM5
Human Genome Epidemiology (HuGE) Navigator
PDLIM5
genes like me logo Genes that share disorders with PDLIM5: view

No data available for UniProtKB/Swiss-Prot for PDLIM5 Gene

Publications for PDLIM5 Gene

  1. Gene expression and association analyses of LIM (PDLIM5) in bipolar disorder and schizophrenia. (PMID: 16044170) Kato T. … Yoshikawa T. (Mol. Psychiatry 2005) 3 4 23 49
  2. The PDLIM5 gene and lithium prophylaxis: an association and gene expression analysis in Sardinian patients with bipolar disorder. (PMID: 18456508) Squassina A. … Zompo M.D. (Pharmacol. Res. 2008) 3 23 49
  3. PDLIM5 and susceptibility to bipolar disorder: a family-based association study and meta-analysis. (PMID: 18496208) Shi J. … Liu C. (Psychiatr. Genet. 2008) 3 23 49
  4. A case-control association study of the PDLIM5 gene and bipolar disorder in a Sardinian sample. (PMID: 18496210) Squassina A. … Del Zompo M. (Psychiatr. Genet. 2008) 3 23 49
  5. Positive association between the PDLIM5 gene and bipolar disorder in the Chinese Han population. (PMID: 19448850) Zhao T. … Yu L. (J Psychiatry Neurosci 2009) 3 23 49

Products for PDLIM5 Gene

Sources for PDLIM5 Gene

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