ENSG00000072110


Homo sapiens

Features
Gene ID: ENSG00000072110
  
Biological name :ACTN1
  
Synonyms : actinin alpha 1 / ACTN1 / P12814
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q24.1
Gene start: 68874143
Gene end: 68979440
  
Corresponding Affymetrix probe sets: 200943_at (Human Genome U133 Plus 2.0 Array)   208636_at (Human Genome U133 Plus 2.0 Array)   208637_x_at (Human Genome U133 Plus 2.0 Array)   211160_x_at (Human Genome U133 Plus 2.0 Array)   237401_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452254
Ensembl peptide - ENSP00000451086
Ensembl peptide - ENSP00000452423
Ensembl peptide - ENSP00000193403
Ensembl peptide - ENSP00000366035
Ensembl peptide - ENSP00000377941
Ensembl peptide - ENSP00000414272
Ensembl peptide - ENSP00000439828
Ensembl peptide - ENSP00000444422
Ensembl peptide - ENSP00000450618
Ensembl peptide - ENSP00000450625
Ensembl peptide - ENSP00000450764
Ensembl peptide - ENSP00000450903
Ensembl peptide - ENSP00000450925
NCBI entrez gene - 87     See in Manteia.
OMIM - 102575
RefSeq - XM_017021728
RefSeq - NM_001102
RefSeq - NM_001130004
RefSeq - NM_001130005
RefSeq - XM_011537265
RefSeq - XM_011537266
RefSeq - XM_011537267
RefSeq - XM_011537268
RefSeq - XM_017021720
RefSeq - XM_017021721
RefSeq - XM_017021722
RefSeq - XM_017021723
RefSeq - XM_017021725
RefSeq - XM_017021726
RefSeq - XM_017021727
RefSeq Peptide - NP_001123476
RefSeq Peptide - NP_001123477
RefSeq Peptide - NP_001093
swissprot - G3V2W4
swissprot - G3V2X9
swissprot - G3V380
swissprot - G3V5M4
swissprot - H0YJ11
swissprot - H0YJW3
swissprot - H7C5W8
swissprot - H9KV75
swissprot - A0A024R694
swissprot - P12814
swissprot - G3V2E8
swissprot - G3V2N5
Ensembl - ENSG00000072110
  
Related genetic diseases (OMIM): 615193 - Bleeding disorder, platelet-type, 15, 615193
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
 actn1ENSDARG00000007219Danio rerio
 ACTN1ENSGALG00000042458Gallus gallus
 Actn1ENSMUSG00000015143Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACTN4 / O43707 / actinin alpha 4ENSG0000013040284
ACTN2 / P35609 / actinin alpha 2ENSG0000007752278
ACTN3 / Q08043 / actinin alpha 3 (gene/pseudogene)ENSG0000024874674
Q9NRC6 / SPTBN5 / spectrin beta, non-erythrocytic 5ENSG0000013787732
Q01082 / SPTBN1 / spectrin beta, non-erythrocytic 1ENSG0000011530630
SPTB / P11277 / spectrin beta, erythrocyticENSG0000007018229
O15020 / SPTBN2 / spectrin beta, non-erythrocytic 2ENSG0000017389829
Q9H254 / SPTBN4 / spectrin beta, non-erythrocytic 4ENSG0000016046028
Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1ENSG0000019769419
SPTA1 / P02549 / spectrin alpha, erythrocytic 1ENSG0000016355416


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR014837  EF-hand, Ca insensitive
 IPR018159  Spectrin/alpha-actinin
 IPR018247  EF-Hand 1, calcium-binding site
 IPR026921  Alpha-actinin 1
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0030220 platelet formation IMP
 biological_processGO:0036344 platelet morphogenesis IMP
 biological_processGO:0042981 regulation of apoptotic process NAS
 biological_processGO:0048041 focal adhesion assembly IMP
 biological_processGO:0051017 actin filament bundle assembly IEA
 biological_processGO:0051271 negative regulation of cellular component movement IMP
 biological_processGO:0051639 actin filament network formation IMP
 biological_processGO:0051764 actin crosslink formation IEA
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0001725 stress fiber IDA
 cellular_componentGO:0001726 ruffle IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005903 brush border IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005916 fascia adherens IEA
 cellular_componentGO:0005925 focal adhesion IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030017 sarcomere IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0031143 pseudopodium TAS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003725 double-stranded RNA binding IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017166 vinculin binding IPI
 molecular_functionGO:0030374 nuclear receptor transcription coactivator activity IDA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Syndecan interactions
Nephrin family interactions
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0001873 Thrombocytopenia 
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 HP:0011273 Anisocytosis "Abnormally increased variability in the size of erythrocytes." [HPO:probinson]
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 HP:0011877 Increased mean platelet volume "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188677 PARVB / Q9HBI1 / parvin beta  / reaction / complex
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / reaction / complex
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / reaction / complex






 

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