ENSG00000102879


Homo sapiens

Features
Gene ID: ENSG00000102879
  
Biological name :CORO1A
  
Synonyms : CORO1A / coronin 1A / P31146
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p11.2
Gene start: 30182827
Gene end: 30189076
  
Corresponding Affymetrix probe sets: 209083_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457332
Ensembl peptide - ENSP00000456756
Ensembl peptide - ENSP00000457509
Ensembl peptide - ENSP00000219150
Ensembl peptide - ENSP00000454752
Ensembl peptide - ENSP00000455552
Ensembl peptide - ENSP00000456266
Ensembl peptide - ENSP00000456457
NCBI entrez gene - 11151     See in Manteia.
OMIM - 605000
RefSeq - XM_017022886
RefSeq - NM_001193333
RefSeq - NM_007074
RefSeq - XM_011545714
RefSeq - XM_017022885
RefSeq Peptide - NP_001180262
RefSeq Peptide - NP_009005
swissprot - P31146
swissprot - A0A024R611
swissprot - H3BNA2
swissprot - H3BRJ0
swissprot - H3BRY3
swissprot - H3BTU6
swissprot - H3BSL1
swissprot - H3BU76
Ensembl - ENSG00000102879
  
Related genetic diseases (OMIM): 615401 - Immunodeficiency 8, 615401
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
 coro1aENSDARG00000054610Danio rerio
 Coro1aENSMUSG00000030707Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CORO1B / Q9BR76 / coronin 1BENSG0000017272567
CORO6 / Q6QEF8 / coronin 6ENSG0000016754966
CORO1C / Q9ULV4 / coronin 1CENSG0000011088064
CORO2B / Q9UQ03 / coronin 2BENSG0000010364744
CORO2A / Q92828 / coronin 2AENSG0000010678944
CORO7 / P57737 / coronin 7ENSG0000026224633
CORO7-PAM16 / CORO7-PAM16 readthroughENSG0000010342633
PAM16 / Q9Y3D7 / presequence translocase associated motor 16ENSG000002179300


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR015048  Domain of unknown function DUF1899
 IPR015049  Trimerisation motif
 IPR015505  Coronin
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR029508  Coronin 1A
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001845 phagolysosome assembly IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006909 phagocytosis IMP
 biological_processGO:0007015 actin filament organization IEA
 biological_processGO:0008064 regulation of actin polymerization or depolymerization IEA
 biological_processGO:0008360 regulation of cell shape IEA
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0030036 actin cytoskeleton organization IMP
 biological_processGO:0030335 positive regulation of cell migration IEA
 biological_processGO:0030595 leukocyte chemotaxis IEA
 biological_processGO:0030833 regulation of actin filament polymerization IEA
 biological_processGO:0031339 negative regulation of vesicle fusion IEA
 biological_processGO:0031589 cell-substrate adhesion IMP
 biological_processGO:0032796 uropod organization IEA
 biological_processGO:0032956 regulation of actin cytoskeleton organization IMP
 biological_processGO:0034097 response to cytokine IEA
 biological_processGO:0038180 nerve growth factor signaling pathway IEA
 biological_processGO:0042102 positive regulation of T cell proliferation IEA
 biological_processGO:0043029 T cell homeostasis IEA
 biological_processGO:0043320 natural killer cell degranulation IMP
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0045087 innate immune response NAS
 biological_processGO:0048873 homeostasis of number of cells within a tissue IEA
 biological_processGO:0050870 positive regulation of T cell activation IEA
 biological_processGO:0050918 positive chemotaxis IDA
 biological_processGO:0051126 negative regulation of actin nucleation IDA
 biological_processGO:0051279 regulation of release of sequestered calcium ion into cytosol IEA
 biological_processGO:0061502 early endosome to recycling endosome transport IEA
 biological_processGO:0071353 cellular response to interleukin-4 IEA
 cellular_componentGO:0001772 immunological synapse IDA
 cellular_componentGO:0001891 phagocytic cup IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane IEA
 cellular_componentGO:0030864 cortical actin cytoskeleton IDA
 cellular_componentGO:0031252 cell leading edge IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0045335 phagocytic vesicle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003779 actin binding IPI
 molecular_functionGO:0003785 actin monomer binding IMP
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding ISS
 molecular_functionGO:0032036 myosin heavy chain binding IPI
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043548 phosphatidylinositol 3-kinase binding IDA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000752 Hyperactivity 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001888 Lymphopenia 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002721 Immunodeficiency 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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