ENSG00000163431


Homo sapiens

Features
Gene ID: ENSG00000163431
  
Biological name :LMOD1
  
Synonyms : leiomodin 1 / LMOD1 / P29536
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q32.1
Gene start: 201896452
Gene end: 201946588
  
Corresponding Affymetrix probe sets: 203766_s_at (Human Genome U133 Plus 2.0 Array)   211562_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000356257
Ensembl peptide - ENSP00000480209
NCBI entrez gene - 25802     See in Manteia.
OMIM - 602715
RefSeq - NM_012134
RefSeq Peptide - NP_036266
swissprot - P29536
swissprot - Q9BV00
Ensembl - ENSG00000163431
  
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
 lmod1aENSDARG00000056111Danio rerio
 lmod1bENSDARG00000077261Danio rerio
 LMOD1ENSGALG00000028721Gallus gallus
 Lmod1ENSMUSG00000048096Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LMOD2 / Q6P5Q4 / leiomodin 2ENSG0000017080737
LMOD3 / Q0VAK6 / leiomodin 3ENSG0000016338032
TMOD3 / Q9NYL9 / tropomodulin 3ENSG0000013859422
TMOD2 / Q9NZR1 / tropomodulin 2ENSG0000012887222
TMOD1 / P28289 / tropomodulin 1ENSG0000013684221
TMOD4 / Q9NZQ9 / tropomodulin 4ENSG0000016315720


Protein motifs (from Interpro)
Interpro ID Name
 IPR003124  WH2 domain
 IPR004934  Tropomodulin
 IPR030136  Leiomodin-1
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006936 muscle contraction IEA
 biological_processGO:0030239 myofibril assembly IBA
 biological_processGO:0030838 positive regulation of actin filament polymerization IDA
 biological_processGO:0045010 actin nucleation IDA
 biological_processGO:0051694 pointed-end actin filament capping IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005865 striated muscle thin filament IBA
 cellular_componentGO:0005884 actin filament IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0030016 myofibril IDA
 cellular_componentGO:0030017 sarcomere ISS
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005523 tropomyosin binding IEA


Pathways (from Reactome)
Pathway description
Smooth Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000003 Multicystic kidney "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators]
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 HP:0000021 Lower urinary tract dilatation 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0001522 Death in infancy 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001539 Omphalocele 
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 HP:0001561 Polyhydramnios 
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 HP:0002017 Nausea and vomiting 
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 HP:0002566 Intestinal malrotation "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators]
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0004388 Microcolon 
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 HP:0100544 Cardiac neoplasm "A `neoplasm` (MPATH:218) of the `heart` (FMA:7088)." [HPO:probinson]
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 HP:0100771 Hypoperistalsis 
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 HP:0100806 Sepsis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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