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Aliases for PALLD Gene

Aliases for PALLD Gene

  • Palladin, Cytoskeletal Associated Protein 2 3 5
  • Sarcoma Antigen NY-SAR-77 3 4
  • SIH002 3 4
  • Myoneurin 3
  • Palladin 3
  • KIAA0992 4
  • CGI-151 3
  • CGI151 3
  • PNCA1 3
  • MYN 3

External Ids for PALLD Gene

Previous GeneCards Identifiers for PALLD Gene

  • GC04P169793
  • GC04P169654
  • GC04P169418
  • GC04P165170

Summaries for PALLD Gene

Entrez Gene Summary for PALLD Gene

  • This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for PALLD Gene

PALLD (Palladin, Cytoskeletal Associated Protein) is a Protein Coding gene. Diseases associated with PALLD include Pancreatic Cancer 1 and Pancreatic Cancer Susceptibility 1. Among its related pathways are Cytoskeletal Signaling. GO annotations related to this gene include actin binding and muscle alpha-actinin binding. An important paralog of this gene is MYPN.

UniProtKB/Swiss-Prot for PALLD Gene

  • Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci.

Gene Wiki entry for PALLD Gene

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

Genomics for PALLD Gene

Regulatory Elements for PALLD Gene

Enhancers for PALLD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G168629 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.7 +138.7 138723 13.0 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 GATA2 FOS SP3 REST PALLD RNU6-1336P ENSG00000249623 BTF3L4P4
GH04G168612 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +121.0 120971 11.8 ZNF146 JUN SIN3A GATA2 SCRT2 ZNF600 FOS MAFK NR2F1 BHLHE40 PALLD ENSG00000249623 RNU6-1336P BTF3L4P4
GH04G168734 1.6 Ensembl ENCODE dbSUPER 14.8 +239.8 239831 4.2 ARNT SIN3A ARID4B ZNF2 YY1 ZNF766 FOS JUNB ZHX2 MEF2D PALLD RNU6-1336P ENSG00000249609 ENSG00000249623 RPL9P16
GH04G168877 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +386.0 385984 11.6 HDGF ZNF493 ZFP64 GATA2 FOS ZNF202 REST PPARG ZNF623 ZNF518A CBR4 HPF1 PALLD ENSG00000249609 ENSG00000251445 RNY4P17 RNU6-1336P ENSG00000249623 RNU6-853P LOC102723331
GH04G168568 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +73.0 72957 2.6 INSM2 FEZF1 ZNF2 TCF12 CBX5 GATA2 ZNF366 ZNF350 KLF7 NFYA PALLD RNU6-1336P ENSG00000249623 GC04P168581 DDX60L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PALLD on UCSC Golden Path with GeneCards custom track

Genomic Location for PALLD Gene

Chromosome:
4
Start:
168,497,064 bp from pter
End:
168,928,457 bp from pter
Size:
431,394 bases
Orientation:
Plus strand

Genomic View for PALLD Gene

Genes around PALLD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PALLD Gene

Proteins for PALLD Gene

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

    Protein Symbol:
    Q8WX93-PALLD_HUMAN
    Recommended name:
    Palladin
    Protein Accession:
    Q8WX93
    Secondary Accessions:
    • B3KTG2
    • B5MD56
    • B7ZMM5
    • Q7L3E0
    • Q7Z3W0
    • Q86WE8
    • Q8N1M2
    • Q9UGA0
    • Q9UQF5
    • Q9Y2J6
    • Q9Y3E9

    Protein attributes for PALLD Gene

    Size:
    1383 amino acids
    Molecular mass:
    150564 Da
    Quaternary structure:
    • Interacts with EPS8, LASP1 and VASP (By similarity). Interacts with ACTN, ARGBP2, LPP, PFN1, SPIN90, SRC and EZR.
    SequenceCaution:
    • Sequence=AAD34146.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAO65174.1; Type=Frameshift; Positions=1150, 1154; Evidence={ECO:0000305}; Sequence=BAA76836.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC04796.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PALLD Gene

    Alternative splice isoforms for PALLD Gene

neXtProt entry for PALLD Gene

Post-translational modifications for PALLD Gene

  • Phosphorylated predominantly on serines and, to a lesser extent, on tyrosines (By similarity). Phosphorylation at Ser-1118 by PKB/AKT1 modulates cytoskeletal organization and cell motility.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PALLD (palladin)

No data available for DME Specific Peptides for PALLD Gene

Domains & Families for PALLD Gene

Gene Families for PALLD Gene

Graphical View of Domain Structure for InterPro Entry

Q8WX93

UniProtKB/Swiss-Prot:

PALLD_HUMAN :
  • Belongs to the myotilin/palladin family.
Family:
  • Belongs to the myotilin/palladin family.
genes like me logo Genes that share domains with PALLD: view

Function for PALLD Gene

Molecular function for PALLD Gene

UniProtKB/Swiss-Prot Function:
Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci.
UniProtKB/Swiss-Prot Induction:
Isoform 3 is expressed de novo. Isoform 4 is up-regulated by TGFB1 during myofibroblast differentiation.

Gene Ontology (GO) - Molecular Function for PALLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11598191
GO:0051371 muscle alpha-actinin binding TAS 16125169
genes like me logo Genes that share ontologies with PALLD: view
genes like me logo Genes that share phenotypes with PALLD: view

Animal Models for PALLD Gene

MGI Knock Outs for PALLD:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for PALLD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PALLD Gene

Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cytoplasm, myofibril, sarcomere, Z line. Cell projection, ruffle. Cell projection, podosome. Cell projection, lamellipodium. Cell projection, axon. Cell projection, growth cone. Note=Localizes to stress fibers and Z lines. Preferentially expressed in the excitatory presynaptic terminals. {ECO:0000250 UniProtKB:P0C5E3, ECO:0000269 PubMed:11598191, ECO:0000269 PubMed:16125169, ECO:0000269 PubMed:17322171, ECO:0000269 PubMed:17537434}.

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 PALLD gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PALLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0002102 podosome IEA --
GO:0005634 nucleus IDA 11598191
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PALLD: view

Pathways & Interactions for PALLD Gene

SuperPathways for PALLD Gene

SuperPathway Contained pathways
1 Cytoskeletal Signaling
genes like me logo Genes that share pathways with PALLD: view

Pathways by source for PALLD Gene

1 Cell Signaling Technology pathway for PALLD Gene

SIGNOR curated interactions for PALLD Gene

Other effect:

Gene Ontology (GO) - Biological Process for PALLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IEA --
GO:0003382 epithelial cell morphogenesis IEA --
GO:0007010 cytoskeleton organization NAS 11598191
GO:0016477 cell migration IEA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with PALLD: view

Drugs & Compounds for PALLD Gene

No Compound Related Data Available

Transcripts for PALLD Gene

Unigene Clusters for PALLD Gene

Palladin, cytoskeletal associated protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^
SP1: - - -
SP2:
SP3: -
SP4: - - - - -
SP5:
SP6: - - -
SP7:
SP8: -
SP9:
SP10:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PALLD Gene

GeneLoc Exon Structure for
PALLD
ECgene alternative splicing isoforms for
PALLD

Expression for PALLD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Esophagus - Muscularis (x5.4) and Esophagus - Gastroesophageal Junction (x4.0).

Protein differential expression in normal tissues from HIPED for PALLD Gene

This gene is overexpressed in Bone marrow stromal cell (12.7), Urinary Bladder (9.5), Uterus (8.7), and Colon muscle (7.7).

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



Protein tissue co-expression partners for PALLD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PALLD Gene:

PALLD

SOURCE GeneReport for Unigene cluster for PALLD Gene:

Hs.151220

mRNA Expression by UniProt/SwissProt for PALLD Gene:

Q8WX93-PALLD_HUMAN
Tissue specificity: Detected in both muscle and non-muscle tissues. High expression in prostate, ovary, colon, and kidney. Not detected in spleen, skeletal muscle, lung and peripheral blood lymphocytes (at protein level). Protein is overexpressed in FA6, HPAF, IMIM-PC2, SUIT-2 and PancTu-II sporadic pancreatic cancer cell lines.

Evidence on tissue expression from TISSUES for PALLD Gene

  • Nervous system(4.8)
  • Heart(4.6)
  • Liver(4.2)
  • Muscle(2.9)
  • Lung(2.8)
  • Spleen(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PALLD Gene

Germ Layers:
  • mesoderm
Systems:
  • digestive
  • endocrine
Organs:
Abdomen:
  • pancreas
genes like me logo Genes that share expression patterns with PALLD: view

Primer Products

Orthologs for PALLD Gene

This gene was present in the common ancestor of chordates.

Orthologs for PALLD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PALLD 34 35
  • 98.17 (n)
dog
(Canis familiaris)
Mammalia LOC477351 34
  • 90.58 (n)
PALLD 35
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Palld 34 16 35
  • 85.02 (n)
rat
(Rattus norvegicus)
Mammalia LOC100360205 34
  • 83.95 (n)
cow
(Bos Taurus)
Mammalia PALLD 34 35
  • 75.73 (n)
oppossum
(Monodelphis domestica)
Mammalia PALLD 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves PALLD 34 35
  • 73.01 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia palld 34
  • 68.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1924 34
zebrafish
(Danio rerio)
Actinopterygii palld 34 35
  • 62.35 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14105 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.17 35
  • 42 (a)
OneToMany
Species where no ortholog for PALLD was found in the sources mined by GeneCards:
  • 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)
  • 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 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 PALLD Gene

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

Paralogs for PALLD Gene

Paralogs for PALLD Gene

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

Variants for PALLD Gene

Sequence variations from dbSNP and Humsavar for PALLD Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs112116419 Likely benign 168,925,229(+) TATTT(A/G)TAGTT intron-variant
rs113515140 Likely benign 168,926,209(+) TCTTT(A/G)TAGCC intron-variant
rs113676921 Likely benign 168,898,684(+) TTCAC(A/C/G)TGTAG intron-variant, reference, synonymous-codon
rs113794451 Likely benign 168,926,672(+) AATCA(A/G)TTGTT intron-variant, utr-variant-3-prime
rs114171764 Likely benign 168,915,900(+) GCCTC(A/G)TTCTA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1545e212 CNV loss 25503493
esv1134701 CNV insertion 17803354
esv1342986 CNV insertion 17803354
esv22309 CNV gain 19812545
esv2658080 CNV deletion 23128226
esv2666829 CNV deletion 23128226
esv2666909 CNV deletion 23128226
esv2673045 CNV deletion 23128226
esv2728714 CNV deletion 23290073
esv2728715 CNV deletion 23290073
esv2728716 CNV deletion 23290073
esv2728717 CNV deletion 23290073
esv3394739 CNV insertion 20981092
esv34043 CNV loss 18971310
esv3564972 CNV deletion 23714750
esv3564975 CNV deletion 23714750
esv3564977 CNV deletion 23714750
esv3569818 CNV loss 25503493
esv3584822 CNV loss 24956385
esv3584823 CNV loss 24956385
esv3603100 CNV gain 21293372
esv3603104 CNV loss 21293372
esv3603105 CNV loss 21293372
esv3603108 CNV loss 21293372
esv3603109 CNV loss 21293372
esv3894069 CNV loss 25118596
esv4297 CNV loss 18987735
nsv1074770 CNV deletion 25765185
nsv1114599 CNV deletion 24896259
nsv1126050 CNV deletion 24896259
nsv1143296 CNV deletion 24896259
nsv290017 CNV deletion 16902084
nsv291025 CNV deletion 16902084
nsv437949 CNV loss 16468122
nsv461834 CNV gain 19166990
nsv509944 OTHER sequence alteration 20534489
nsv524640 CNV gain 19592680
nsv525234 CNV gain 19592680
nsv527077 CNV gain 19592680
nsv528045 CNV gain 19592680
nsv596122 CNV gain 21841781
nsv830147 CNV gain 17160897

Variation tolerance for PALLD Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.43; 85.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PALLD Gene

Human Gene Mutation Database (HGMD)
PALLD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PALLD

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

Disorders for PALLD Gene

MalaCards: The human disease database

(6) MalaCards diseases for PALLD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pancreatic cancer 1
  • pnca1
pancreatic cancer susceptibility 1
  • pnca1
pancreatic cancer
  • pancreatic carcinoma, somatic
dysplastic nevus syndrome
  • familial atypical multiple mole-melanoma
myopathy, spheroid body
  • spheroid body myopathy
- elite association - COSMIC cancer census association via MalaCards
Search PALLD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PALLD_HUMAN
  • Note=Genetic variations in PALLD may be associated with susceptibility to myocardial infarction. {ECO:0000269 PubMed:16175505}.
  • Pancreatic cancer 1 (PNCA1) [MIM:606856]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269 PubMed:17194196, ECO:0000269 PubMed:17415588, ECO:0000269 PubMed:17455999}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PALLD

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

No data available for Genatlas for PALLD Gene

Publications for PALLD Gene

  1. Absence of deleterious palladin mutations in patients with familial pancreatic cancer. (PMID: 19336541) Klein A.P. … Goggins M. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 22 46 64
  2. The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer. (PMID: 17415588) Zogopoulous G. … Gallinger S. (Hum. Genet. 2007) 3 4 46 64
  3. Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. (PMID: 17194196) Pogue-Geile K.L. … Brentnall T.A. (PLoS Med. 2006) 3 4 22 64
  4. Identification of four gene variants associated with myocardial infarction. (PMID: 16175505) Shiffman D. … Kane J.P. (Am. J. Hum. Genet. 2005) 3 4 22 64
  5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64

Products for PALLD Gene

Sources for PALLD Gene

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