ENSG00000129116


Homo sapiens

Features
Gene ID: ENSG00000129116
  
Biological name :PALLD
  
Synonyms : palladin, cytoskeletal associated protein / PALLD / Q8WX93
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q32.3
Gene start: 168497066
Gene end: 168928457
  
Corresponding Affymetrix probe sets: 200897_s_at (Human Genome U133 Plus 2.0 Array)   200906_s_at (Human Genome U133 Plus 2.0 Array)   200907_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423640
Ensembl peptide - ENSP00000423063
Ensembl peptide - ENSP00000424016
Ensembl peptide - ENSP00000426947
Ensembl peptide - ENSP00000425729
Ensembl peptide - ENSP00000425556
Ensembl peptide - ENSP00000424288
Ensembl peptide - ENSP00000424121
Ensembl peptide - ENSP00000261509
Ensembl peptide - ENSP00000377327
Ensembl peptide - ENSP00000422016
Ensembl peptide - ENSP00000422135
NCBI entrez gene - 23022     See in Manteia.
OMIM - 608092
RefSeq - XM_017007910
RefSeq - NM_001166108
RefSeq - NM_001166109
RefSeq - NM_001166110
RefSeq - NM_016081
RefSeq - XM_005262861
RefSeq - XM_005262866
RefSeq - XM_011531768
RefSeq - XM_011531769
RefSeq - XM_011531770
RefSeq - XM_011531771
RefSeq - XM_011531772
RefSeq - XM_011531773
RefSeq - XM_011531774
RefSeq - XM_011531775
RefSeq Peptide - NP_001159582
RefSeq Peptide - NP_057165
RefSeq Peptide - NP_001159580
RefSeq Peptide - NP_001159581
swissprot - D6R948
swissprot - F8WA26
swissprot - H0Y952
swissprot - D6RBH5
swissprot - Q8WX93
swissprot - B2RTX2
swissprot - H0YA05
swissprot - D6RBB1
swissprot - D6R9Z5
swissprot - D6R9F5
Ensembl - ENSG00000129116
  
Related genetic diseases (OMIM): 606856 - {Pancreatic cancer, susceptibility to, 1}, 606856
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 palldENSDARG00000040009Danio rerio
 PALLDENSGALG00000009650Gallus gallus
 PalldENSMUSG00000058056Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYPN / Q86TC9 / myopalladinENSG0000013834744
TTN / titin / Q8WZ42ENSG0000015565728
HMCN1 / Q96RW7 / hemicentin 1ENSG0000014334118
HMCN2 / Q8NDA2 / hemicentin 2ENSG0000014835716
MYOT / Q9UBF9 / myotilinENSG0000012072914
OBSCN / Q5VST9 / obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFENSG0000015435814
MXRA5 / Q9NR99 / matrix remodeling associated 5ENSG0000010182513
IGSF10 / Q6WRI0 / immunoglobulin superfamily member 10ENSG0000015258013
OBSL1 / O75147 / obscurin like 1ENSG000001240064


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR033017  Palladin, C-terminal immunoglobulin-like domain
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003334 keratinocyte development IEA
 biological_processGO:0003382 epithelial cell morphogenesis IEA
 biological_processGO:0007010 cytoskeleton organization NAS
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 cellular_componentGO:0001726 ruffle IEA
 cellular_componentGO:0002102 podosome IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0051371 muscle alpha-actinin binding TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000819 Diabetes mellitus 
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001738 Exocrine pancreatic insufficiency 
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 HP:0001824 Weight loss 
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 HP:0002017 Nausea and vomiting 
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 HP:0002027 Abdominal pain 
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 HP:0002039 Anorexia 
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 HP:0002254 Intermittent diarrhea 
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 HP:0002716 Lymphadenopathy 
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002896 Liver cancer 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003002 Breast cancer 
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 HP:0003003 Colon cancer 
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 HP:0003418 Back pain 
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 HP:0004389 Intestinal pseudo-obstruction 
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 HP:0004396 Poor appetite 
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 HP:0005249 Functional intestinal obstruction 
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 HP:0006725 Pancreatic adenocarcinoma 
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 HP:0012334 Extrahepatic cholestasis "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
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 HP:0012432 Chronic fatigue "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432]
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 HP:0025318 Ovarian carcinoma "A malignant neoplasm originating from the surface ovarian epithelium." []
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 HP:0100592 Peritoneal abscess "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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