Human Gene PDLIM4 (ENST00000253754.8_4) from GENCODE V47lift37
  Description: PDZ and LIM domain 4, transcript variant 1 (from RefSeq NM_003687.4)
Gencode Transcript: ENST00000253754.8_4
Gencode Gene: ENSG00000131435.13_11
Transcript (Including UTRs)
   Position: hg19 chr5:131,593,389-131,609,147 Size: 15,759 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr5:131,593,428-131,607,922 Size: 14,495 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:131,593,389-131,609,147)mRNA (may differ from genome)Protein (330 aa)
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-  Comments and Description Text from UniProtKB
  ID: PDLI4_HUMAN
DESCRIPTION: RecName: Full=PDZ and LIM domain protein 4; AltName: Full=LIM protein RIL; AltName: Full=Reversion-induced LIM protein;
SUBUNIT: Interacts with the LIM domain with the second and fourth PDZ domains of PTPN13 (By similarity).
TISSUE SPECIFICITY: Isoform 2 is found in brain.
PTM: Phosphorylated on tyrosine residue(s). Can be dephosphorylated by PTPN13 (By similarity).
POLYMORPHISM: Genetic variations in PDLIM4 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disrutption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.
SIMILARITY: Contains 1 LIM zinc-binding domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PDLIM4
Diseases sorted by gene-association score: osteoporosis* (254), retinitis pigmentosa 60 (11), multiple personality disorder (9), dissociative disorder (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.16 RPKM in Colon - Sigmoid
Total median expression: 665.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.6039-0.323 Picture PostScript Text
3' UTR -439.501225-0.359 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ
IPR001781 - Znf_LIM

Pfam Domains:
PF00412 - LIM domain
PF00595 - PDZ domain
PF15936 - Domain of unknown function (DUF4749)
PF17820 - PDZ domain

SCOP Domains:
50156 - PDZ domain-like
57716 - Glucocorticoid receptor-like (DNA-binding domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EEG - NMR MuPIT 2V1W - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P50479
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019903 protein phosphatase binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0051393 alpha-actinin binding

Biological Process:
GO:0031532 actin cytoskeleton reorganization
GO:0098976 excitatory chemical synaptic transmission

Cellular Component:
GO:0001725 stress fiber
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0031901 early endosome membrane
GO:0031905 early endosome lumen
GO:0031941 filamentous actin
GO:0034777 recycling endosome lumen
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0048471 perinuclear region of cytoplasm
GO:0055038 recycling endosome membrane


-  Descriptions from all associated GenBank mRNAs
  BC016765 - Homo sapiens PDZ and LIM domain 4, mRNA (cDNA clone MGC:22663 IMAGE:4132234), complete cds.
AF154335 - Homo sapiens reversion-induced LIM protein (RIL) mRNA, complete cds.
AK313508 - Homo sapiens cDNA, FLJ94066, Homo sapiens PDZ and LIM domain 4 (PDLIM4), mRNA.
AF153882 - Homo sapiens reversion-induced LIM protein (RIL) mRNA, complete cds.
X93510 - H.sapiens mRNA for 37 kDa LIM domain protein.
AK225407 - Homo sapiens mRNA for PDZ and LIM domain 4 variant, clone: HRC07666.
BC003096 - Homo sapiens PDZ and LIM domain 4, mRNA (cDNA clone MGC:1645 IMAGE:3501794), complete cds.
AB528934 - Synthetic construct DNA, clone: pF1KE0757, Homo sapiens PDLIM4 gene for PDZ and LIM domain 4, without stop codon, in Flexi system.
CU677715 - Synthetic construct Homo sapiens gateway clone IMAGE:100018966 5' read PDLIM4 mRNA.
KU178433 - Homo sapiens PDZ and LIM domain 4 isoform 1 (PDLIM4) mRNA, partial cds.
KU178434 - Homo sapiens PDZ and LIM domain 4 isoform 2 (PDLIM4) mRNA, partial cds.
BT007019 - Homo sapiens LIM domain protein mRNA, complete cds.
KJ905969 - Synthetic construct Homo sapiens clone ccsbBroadEn_15639 PDLIM4 gene, encodes complete protein.
HQ447857 - Synthetic construct Homo sapiens clone IMAGE:100071202; CCSB007528_03 PDZ and LIM domain 4 (PDLIM4) gene, encodes complete protein.
KJ897873 - Synthetic construct Homo sapiens clone ccsbBroadEn_07267 PDLIM4 gene, encodes complete protein.
JD159900 - Sequence 140924 from Patent EP1572962.
JD310751 - Sequence 291775 from Patent EP1572962.
JD159484 - Sequence 140508 from Patent EP1572962.
JD269922 - Sequence 250946 from Patent EP1572962.
JD106988 - Sequence 88012 from Patent EP1572962.
JD075228 - Sequence 56252 from Patent EP1572962.
JD208366 - Sequence 189390 from Patent EP1572962.
JD152806 - Sequence 133830 from Patent EP1572962.
JD170605 - Sequence 151629 from Patent EP1572962.
JD209075 - Sequence 190099 from Patent EP1572962.
JD317592 - Sequence 298616 from Patent EP1572962.
JD226235 - Sequence 207259 from Patent EP1572962.
JD528449 - Sequence 509473 from Patent EP1572962.
JD260647 - Sequence 241671 from Patent EP1572962.
JD395947 - Sequence 376971 from Patent EP1572962.
JD216944 - Sequence 197968 from Patent EP1572962.
JD298705 - Sequence 279729 from Patent EP1572962.
JD555621 - Sequence 536645 from Patent EP1572962.
JD503272 - Sequence 484296 from Patent EP1572962.
JD315556 - Sequence 296580 from Patent EP1572962.
JD102734 - Sequence 83758 from Patent EP1572962.
JD506813 - Sequence 487837 from Patent EP1572962.
JD537654 - Sequence 518678 from Patent EP1572962.
JD227742 - Sequence 208766 from Patent EP1572962.
JD146586 - Sequence 127610 from Patent EP1572962.
JD503793 - Sequence 484817 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8U1, ENST00000253754.1, ENST00000253754.2, ENST00000253754.3, ENST00000253754.4, ENST00000253754.5, ENST00000253754.6, ENST00000253754.7, NM_003687, P50479, PDLI4_HUMAN, Q53Y39, Q96AT8, Q9BTW8, Q9Y292, RIL, uc317fmd.1, uc317fmd.2
UCSC ID: ENST00000253754.8_4
RefSeq Accession: NM_003687.4
Protein: P50479 (aka PDLI4_HUMAN or PDL4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.