This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes a... See more...

Aliases for PDLIM1 Gene

Aliases for PDLIM1 Gene

  • PDZ And LIM Domain 1 2 3 5
  • Elfin 2 3 4
  • Carboxyl Terminal LIM Domain Protein 1 2 3
  • PDZ And LIM Domain Protein 1 3 4
  • LIM Domain Protein CLP-36 3 4
  • CLIM1 3 4
  • CLP36 3 4
  • Epididymis Secretory Protein Li 112 3
  • C-Terminal LIM Domain Protein 1 4
  • PDZ And LIM Domain 1 (Elfin) 2
  • HEL-S-112 3
  • CLP-36 3
  • HCLIM1 3

External Ids for PDLIM1 Gene

Previous HGNC Symbols for PDLIM1 Gene

  • CLIM1

Previous GeneCards Identifiers for PDLIM1 Gene

  • GC10M095890
  • GC10M096230
  • GC10M097128
  • GC10M096661
  • GC10M096987
  • GC10M096997
  • GC10M090624

Summaries for PDLIM1 Gene

Entrez Gene Summary for PDLIM1 Gene

  • This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]

GeneCards Summary for PDLIM1 Gene

PDLIM1 (PDZ And LIM Domain 1) is a Protein Coding gene. Diseases associated with PDLIM1 include Supravalvular Aortic Stenosis and Donohue Syndrome. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is PDLIM3.

UniProtKB/Swiss-Prot Summary for PDLIM1 Gene

  • Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity).

Gene Wiki entry for PDLIM1 Gene

Additional gene information for PDLIM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDLIM1 Gene

Genomics for PDLIM1 Gene

GeneHancer (GH) Regulatory Elements for PDLIM1 Gene

Promoters and enhancers for PDLIM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J095558 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 -269.5 -269468 5.2 EP300 ZSCAN5C SIN3A NRF1 POLR2G SP1 PHF8 ZNF639 ZNF10 ZIC2 SORBS1 lnc-SORBS1-1 PDLIM1 TCTN3 ZNF518A ALDH18A1 ACSM6 RF00017-752
GH10J095286 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 511.7 -1.1 -1066 11.8 ZBTB40 EP300 CTCF ZSCAN5C SIN3A NRF1 POLR2G SP1 PHF8 TEAD4 PDLIM1 lnc-ACSM6-1 TBC1D12 CYP2C8 ENTPD1 SORBS1 lnc-PDLIM1-4
GH10J095259 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 17 +26.6 26614 10.2 TCF12 JUND FOS ZNF639 ZNF10 ZIC2 ZBTB11 AFF1 TRIM28 RFX1 PDLIM1 CYP2C8 ACSM6 lnc-SORBS1-2
GH10J095182 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.6 +107.4 107447 1.8 CTCF SIN3A ZFX ZIC2 REST POLR2A ZBTB10 ZBTB11 RBM34 ZNF423 PAWRP1 lnc-ACSM6-2 PDLIM1 ENTPD1-AS1 CYP2C8 ACSM6 TCTN3 SORBS1
GH10J095227 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 +60.9 60939 5.4 MYC TCF12 JUND TEAD4 FOS EP300 POLR2A HDAC2 ESRRA ZNF316 ENSG00000234026 piR-32559-054 ACSM6 PDLIM1 CYP2C8 TCTN3 lnc-PDLIM1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDLIM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDLIM1

Top Transcription factor binding sites by QIAGEN in the PDLIM1 gene promoter:
  • C/EBPalpha
  • Egr-2
  • FOXD1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for PDLIM1 Gene

Genomic Locations for PDLIM1 Gene
chr10:95,237,568-95,291,148
(GRCh38/hg38)
Size:
53,581 bases
Orientation:
Minus strand
chr10:96,997,329-97,050,781
(GRCh37/hg19)
Size:
53,453 bases
Orientation:
Minus strand

Genomic View for PDLIM1 Gene

Genes around PDLIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDLIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDLIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDLIM1 Gene

Proteins for PDLIM1 Gene

  • Protein details for PDLIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00151-PDLI1_HUMAN
    Recommended name:
    PDZ and LIM domain protein 1
    Protein Accession:
    O00151
    Secondary Accessions:
    • B2RBS6
    • Q5VZH5
    • Q9BPZ9

    Protein attributes for PDLIM1 Gene

    Size:
    329 amino acids
    Molecular mass:
    36072 Da
    Quaternary structure:
    • Interacts with ACTN1, ACTN2 and ACTN4 (PubMed:10861853, PubMed:10753915, PubMed:11110697). Interacts with PDLIM4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PDLIM1 Gene

neXtProt entry for PDLIM1 Gene

Post-translational modifications for PDLIM1 Gene

  • Ubiquitination at Lys22
  • Modification sites at PhosphoSitePlus

Other Protein References for PDLIM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PDLIM1 Gene

Domains & Families for PDLIM1 Gene

Gene Families for PDLIM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PDLIM1 Gene

Blocks:
  • Zn-binding protein, LIM
  • PDZ/DHR/GLGF domain
  • ZASP
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDLIM1 Gene

GenScript: Design optimal peptide antigens:
  • LIM domain protein CLP-36 (PDLI1_HUMAN)
genes like me logo Genes that share domains with PDLIM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDLIM1 Gene

Function for PDLIM1 Gene

Molecular function for PDLIM1 Gene

UniProtKB/Swiss-Prot Function:
Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity).

Phenotypes From GWAS Catalog for PDLIM1 Gene

Gene Ontology (GO) - Molecular Function for PDLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IEA --
GO:0003779 actin binding IBA 21873635
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051371 muscle alpha-actinin binding IBA 21873635
genes like me logo Genes that share ontologies with PDLIM1: view
genes like me logo Genes that share phenotypes with PDLIM1: view

Animal Model Products

CRISPR Products

miRNA for PDLIM1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDLIM1 Gene

Localization for PDLIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDLIM1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Associates with actin stress fibers. {ECO:0000269 PubMed:11110697}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDLIM1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
plasma membrane 2
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cell Junctions (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IBA 21873635
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005913 cell-cell adherens junction IBA,HDA 21873635
genes like me logo Genes that share ontologies with PDLIM1: view

Pathways & Interactions for PDLIM1 Gene

PathCards logo

SuperPathways for PDLIM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006979 response to oxidative stress TAS 8522188
GO:0007507 heart development IBA 21873635
GO:0030036 actin cytoskeleton organization IBA 21873635
genes like me logo Genes that share ontologies with PDLIM1: view

No data available for Pathways by source and SIGNOR curated interactions for PDLIM1 Gene

Drugs & Compounds for PDLIM1 Gene

(1) Drugs for PDLIM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PDLIM1: view

Transcripts for PDLIM1 Gene

mRNA/cDNA for PDLIM1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDLIM1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - - - - - - -
SP6: -
SP7: - - - - - -
SP8:

Relevant External Links for PDLIM1 Gene

GeneLoc Exon Structure for
PDLIM1

Expression for PDLIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDLIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDLIM1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.4).

Protein differential expression in normal tissues from HIPED for PDLIM1 Gene

This gene is overexpressed in Platelet (19.2), Bone marrow stromal cell (6.8), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDLIM1 Gene



Protein tissue co-expression partners for PDLIM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDLIM1

SOURCE GeneReport for Unigene cluster for PDLIM1 Gene:

Hs.368525

mRNA Expression by UniProt/SwissProt for PDLIM1 Gene:

O00151-PDLI1_HUMAN
Tissue specificity: Strongly expressed in the heart and skeletal muscle, moderately expressed in the spleen, small intestine, colon, placenta, and lung. A lower level expression is seen in liver, thymus, kidney, prostate and pancreas and is not found in the brain, testis, ovary, and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for PDLIM1 Gene

  • Heart(4.6)
  • Pancreas(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Lung(3.9)
  • Nervous system(3.7)
  • Intestine(3.5)
  • Muscle(3)
  • Kidney(2.3)
  • Skin(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with PDLIM1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PDLIM1 Gene

Orthologs for PDLIM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDLIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDLIM1 31 30
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDLIM1 31 30
  • 91.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDLIM1 31 30
  • 88.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pdlim1 17 31 30
  • 87.38 (n)
oppossum
(Monodelphis domestica)
Mammalia PDLIM1 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdlim1 30
  • 86.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDLIM1 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDLIM1 31 30
  • 73.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDLIM1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdlim1 30
  • 71.08 (n)
MGC76041 30
zebrafish
(Danio rerio)
Actinopterygii pdlim1 31 30
  • 68.03 (n)
OneToOne
Dr.23376 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10330 30
Species where no ortholog for PDLIM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PDLIM1 Gene

ENSEMBL:
Gene Tree for PDLIM1 (if available)
TreeFam:
Gene Tree for PDLIM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDLIM1: view image

Paralogs for PDLIM1 Gene

(3) SIMAP similar genes for PDLIM1 Gene using alignment to 1 proteins:

  • PDLI1_HUMAN
genes like me logo Genes that share paralogs with PDLIM1: view

Variants for PDLIM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDLIM1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs2296961 - p.Asn175Ser

Additional dbSNP identifiers (rs#s) for PDLIM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PDLIM1 Gene

Variant ID Type Subtype PubMed ID
esv22688 CNV gain+loss 19812545
nsv1069957 CNV deletion 25765185
nsv1110852 OTHER inversion 24896259
nsv1113331 CNV deletion 24896259

Variation tolerance for PDLIM1 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDLIM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDLIM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDLIM1 Gene

Disorders for PDLIM1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PDLIM1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
supravalvular aortic stenosis
  • svas
donohue syndrome
  • leprechaunism
aortic valve disease 2
  • bicuspid aortic valve
hyperacusis
  • low tolerance to sound
mitral valve insufficiency
  • congenital insufficiency of mitral valve
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PDLIM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDLIM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDLIM1 Gene

Publications for PDLIM1 Gene

  1. Interaction of hCLIM1, an enigma family protein, with alpha-actinin 2. (PMID: 10861853) Kotaka M … Waye MM (Journal of cellular biochemistry 2000) 2 3 4 23 54
  2. Human CLP36, a PDZ-domain and LIM-domain protein, binds to alpha-actinin-1 and associates with actin filaments and stress fibers in activated platelets and endothelial cells. (PMID: 11110697) Bauer K … Siess W (Blood 2000) 3 4 23 54
  3. CLP-36 PDZ-LIM protein associates with nonmuscle alpha-actinin-1 and alpha-actinin-4. (PMID: 10753915) Vallenius T … Mäkelä TP (The Journal of biological chemistry 2000) 3 4 23 54
  4. Characterization of the human 36-kDa carboxyl terminal LIM domain protein (hCLIM1). (PMID: 10022510) Kotaka M … Waye MM (Journal of cellular biochemistry 1999) 3 4 23 54
  5. Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. (PMID: 17213842) Silverberg MS … NIDDK IBD Genetics Consortium (European journal of human genetics : EJHG 2007) 3 41 54

Products for PDLIM1 Gene

  • Boster Bio Antibodies for PDLIM1
  • Boster Bio ELISA Kits for PDLIM1

Sources for PDLIM1 Gene