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This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal tran... See more...
Aliases for CORO1A Gene
Aliases for CORO1A Gene
External Ids for CORO1A Gene
- HGNC: 2252
- Entrez Gene: 11151
- Ensembl: ENSG00000102879
- OMIM: 605000
- UniProtKB: P31146
Previous GeneCards Identifiers for CORO1A Gene
- GC16M028961
- GC16P030516
- GC16P030193
- GC16P030231
- GC16P030103
- GC16P027857
Summaries for CORO1A Gene
-
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]
GeneCards Summary for CORO1A Gene
CORO1A (Coronin 1A) is a Protein Coding gene. Diseases associated with CORO1A include Immunodeficiency 8 and Coronin-1A Deficiency. Among its related pathways are Tuberculosis and Phagosome. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CORO1B.
UniProtKB/Swiss-Prot Summary for CORO1A Gene
-
May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes.
Additional gene information for CORO1A Gene
- HGNC(2252)
- Entrez Gene(11151)
- Ensembl(ENSG00000102879)
- OMIM(605000)
- UniProtKB(P31146)
- Open Targets Platform(ENSG00000102879)
- Monarch Initiative
- Search for CORO1A at DataMed
- Search for CORO1A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CORO1A Gene
Genomics for CORO1A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CORO1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CORO1A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CORO1A
- Top Transcription factor binding sites by QIAGEN in the CORO1A gene promoter:
-
- CREB
- deltaCREB
- p300
Genomic Locations for CORO1A Gene
Genomic Locations for CORO1A Gene
- chr16:30,182,827-30,189,076
- (GRCh38/hg38)
- Size:
- 6,250 bases
- Orientation:
- Plus strand
- chr16:30,194,148-30,200,397
- (GRCh37/hg19)
- Size:
- 6,250 bases
- Orientation:
- Plus strand
Genomic View for CORO1A Gene
Genes around CORO1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
CORO1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CORO1A Gene
Proteins for CORO1A Gene
-
Protein details for CORO1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P31146-COR1A_HUMAN
- Recommended name:
- Coronin-1A
- Protein Accession:
- P31146
- B2RBL1
- Q2YD73
Protein attributes for CORO1A Gene
- Size:
- 461 amino acids
- Molecular mass:
- 51026 Da
- Quaternary structure:
-
- Binds actin.
Protein Expression for CORO1A Gene
Post-translational modifications for CORO1A Gene
- phosphorylation at Thr-412 by PKC strongly down-regulates the association with actin.
- Polyubiquitinated by RNF128 with 'Lys-48'-linked chains, leading to proteasomal degradation.
-
Ubiquitination at Lys20, Lys66, Lys233, Lys313, Lys331, Lys355, and Lys393
- NX_P31146 (NX_P31146-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CORO1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CORO1A / Coronin 1a Antibody (LS-B3234) and CORO1A / Coronin 1a Antibody (LS-B14784)
- G Biosciences Immunotag™ CORO1A Antibody
-
Custom Antibody ServicesOriGene Antibodies for CORO1A
- Novus Biologicals Antibodies for CORO1A
-
Abcam antibodies for CORO1A
- Invitrogen Antibodies for CORO1A (AFLGC-CORO1A)
- antibodies-online: Show 34 available Coronin 1a Antibodies ranked by validation data
- Compare Top Coronin 1a Antibodies
-
Recommended
- 36 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 5 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 35 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 78 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CORO1A
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CORO1A
- Origene Custom Protein Services for CORO1A
-
Abcam proteins for CORO1A
Assay Products
- G Biosciences Immunotag™ Human CORO1A (Coronin-1A) ELISA and Immunotag™ Coronin-1A ELISA Kit
-
Abcam assays for CORO1A
No data available for DME Specific Peptides for CORO1A Gene
Domains & Families for CORO1A Gene
Gene Families for CORO1A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CORO1A Gene
Suggested Antigen Peptide Sequences for CORO1A Gene
- GenScript: Design optimal peptide antigens:
-
- Tryptophan aspartate-containing coat protein (COR1A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P31146- Family:
-
- Belongs to the WD repeat coronin family.
Function for CORO1A Gene
Molecular function for CORO1A Gene
- UniProtKB/Swiss-Prot Function:
- May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes.
Phenotypes From GWAS Catalog for CORO1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0003779 | actin binding | IPI | 23100250 |
| GO:0003785 | actin monomer binding | IMP | 23100250 |
| GO:0005515 | protein binding | IEA,IPI | 11094157 |
| GO:0008022 | protein C-terminus binding | IPI | 9365277 |
Phenotypes for CORO1A Gene
- MGI mutant phenotypes for CORO1A:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for CORO1A:
-
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Decreased viability ratio
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability in esophageal squamous lineage
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased peripheral FA formation
Animal Models for CORO1A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CORO1A - Select products 50% OFF >
- * CORO1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CORO1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CORO1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for CORO1A
miRNA for CORO1A Gene
- miRTarBase miRNAs that target CORO1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CORO1A
- Browse OriGene Inhibitory RNA Products For CORO1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CORO1A
Clone Products
- Applied Biological Materials (abm): Clones for CORO1A - Select products 50% OFF >
- * CORO1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CORO1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CORO1A
Cell Line Products
-
Horizon Cell Lines for CORO1A
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CORO1A Gene
Localization for CORO1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for CORO1A Gene
- Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cytoplasmic vesicle, phagosome membrane. Note=In non-infected macrophages, associated with the cortical microtubule network. In mycobacteria-infected macrophages, becomes progressively relocalized and retained around the mycobacterial phagosomes. Retention on the phagosomal membrane is strictly dependent on mycobacterial viability and not due to impaired acidification (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| extracellular | 4 |
| cytosol | 4 |
| endosome | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001772 | immunological synapse | IDA | 24760828 |
| GO:0001891 | phagocytic cup | IDA | 17442961 |
| GO:0005634 | NOT nucleus | IDA | 17341475 |
| GO:0005737 | cytoplasm | IEA,IDA | 17341475 |
| GO:0005769 | early endosome | IEA | -- |
Pathways & Interactions for CORO1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeletal Signaling | ||
| 2 | Phagosome | ||
| 3 | Tuberculosis | ||
Pathways by source for CORO1A Gene
2 KEGG pathways for CORO1A Gene
1 Cell Signaling Technology pathway for CORO1A Gene
Interacting Proteins for CORO1A Gene
Selected Interacting proteins:
P31146-COR1A_HUMAN
ENSP00000219150
for CORO1A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CORO1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001771 | NOT immunological synapse formation | IMP | 24760828 |
| GO:0001845 | phagolysosome assembly | IEA,IMP | 12132654 |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0006909 | phagocytosis | IMP | 17442961 |
| GO:0007015 | actin filament organization | IBA | 21873635 |
Transcripts for CORO1A Gene
mRNA/cDNA for CORO1A Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000563778 937 nts (view in UCSC)
- ENST00000561815 694 nts (view in UCSC)
- ENST00000219150 1623 nts (view in UCSC)
- ENST00000564446 190 nts (view in UCSC)
- ENST00000568763 2809 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CORO1A - Select products 50% OFF >
- * CORO1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CORO1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CORO1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for CORO1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CORO1A
- Browse OriGene Inhibitory RNA Products For CORO1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CORO1A
Clone Products
- Applied Biological Materials (abm): Clones for CORO1A - Select products 50% OFF >
- * CORO1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CORO1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CORO1A
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: |
| ExUns: | 13 | ^ | 14a | · | 14b | ^ | 15 |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: | |||||||
| SP11: | |||||||
| SP12: | |||||||
| SP13: | |||||||
| SP14: |
Relevant External Links for CORO1A Gene
- GeneLoc Exon Structure for
- CORO1A
Expression for CORO1A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Plasmacytoid Dendritic cells Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Brain (Nervous System)
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
-
Spleen (Hematopoietic System)
-
Lung (Respiratory System)
-
Tonsil (Hematopoietic System)
-
Dermis (Integumentary System)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for CORO1A Gene
This gene is overexpressed in Whole Blood (x25.8) and Spleen (x5.0).
This gene is overexpressed in Lymph node (13.6), NK cells (9.5), and Tlymphocyte (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CORO1A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CORO1A
SOURCE GeneReport for Unigene cluster for CORO1A Gene:
Hs.415067mRNA Expression by UniProt/SwissProt for CORO1A Gene:
P31146-COR1A_HUMAN
Tissue specificity:
Expressed in brain, thymus, spleen, bone marrow and lymph node. Low in lung and gut.
Evidence on tissue expression from TISSUES for CORO1A Gene
- Blood(4.9)
- Nervous system(4.9)
- Liver(4.5)
- Skin(4.5)
- Kidney(4.4)
- Spleen(4.3)
- Lymph node(3.4)
- Intestine(3.3)
- Bone marrow(3.3)
- Pancreas(2.7)
- Lung(2.5)
- Eye(2.4)
- Heart(2.4)
- Stomach(2.2)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CORO1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- immune
- lymphatic
- nervous
- respiratory
Regions:
Head and neck:
- brain
- head
General:
- blood
- bone marrow
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CORO1A
-
OriGene qPCR primer pairs and template standards for CORO1A
Gene Expression Assay Products
Orthologs for CORO1A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CORO1A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CORO1A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CORO1A 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CORO1A 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Coro1a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Coro1a 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CORO1A 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CORO1A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | coro2b 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69077 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | coro1a 30 31 |
|
OneToOne | |
| zgc63766 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6309 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | coro 32 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | cor-1 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.313 31 |
|
OneToMany |
- Species where no ortholog for CORO1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Chicken (Gallus gallus)
- 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)
- 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 Vase (Ciona intestinalis)
- 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)
Evolution for CORO1A Gene
- ENSEMBL:
- Gene Tree for CORO1A (if available)
- TreeFam:
- Gene Tree for CORO1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CORO1A: view image
Paralogs for CORO1A Gene
(8) SIMAP similar genes for CORO1A Gene using alignment to 7 proteins:
- COR1A_HUMAN
- H3BNA2_HUMAN
- H3BRJ0_HUMAN
- H3BRY3_HUMAN
- H3BSL1_HUMAN
- H3BTU6_HUMAN
- H3BU76_HUMAN
Pseudogenes.org Pseudogenes for CORO1A Gene
Variants for CORO1A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CORO1A Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640137 | Uncertain Significance: Immunodeficiency 8 | 30,188,547(+) | G/A | MISSENSE_VARIANT | |
| 646149 | Uncertain Significance: Immunodeficiency 8 | 30,187,107(+) | G/A | MISSENSE_VARIANT | |
| 647994 | Uncertain Significance: Immunodeficiency 8 | 30,187,732(+) | T/C | MISSENSE_VARIANT | |
| 651063 | Uncertain Significance: Immunodeficiency 8 | 30,186,841(+) | T/C | MISSENSE_VARIANT | |
| 651336 | Uncertain Significance: Immunodeficiency 8 | 30,186,856(+) | G/A | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.77;
16.27% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CORO1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CORO1A Gene
Disorders for CORO1A Gene
(15) MalaCards diseases for CORO1A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 8 |
|
|
| coronin-1a deficiency |
|
|
| tuberculoid leprosy |
|
|
| immunodeficiency 19 |
|
|
| lymphopenia |
|
|
Search CORO1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
COR1A_HUMAN- Immunodeficiency 8 (IMD8) [MIM:615401]: A disease of the immune system leading to recurrent infections, and characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell lymphoproliferation associated with Epstein-Barr virus infection. {ECO:0000269 PubMed:19097825, ECO:0000269 PubMed:23522482}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CORO1A
No data available for Genatlas for CORO1A Gene
Publications for CORO1A Gene
- Definition of family of coronin-related proteins conserved between humans and mice: close genetic linkage between coronin-2 and CD45-associated protein. (PMID: 9778037) Okumura M … Thomas ML (DNA and cell biology 1998) 2 3 23
- Molecular cloning of a novel actin-binding protein, p57, with a WD repeat and a leucine zipper motif. (PMID: 7758584) Suzuki K … Toyoshima S (FEBS letters 1995) 3 4 23
- Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. (PMID: 23522482) Moshous D … de Villartay JP (The Journal of allergy and clinical immunology 2013) 3 4
- Constitutive turnover of phosphorylation at Thr-412 of human p57/coronin-1 regulates the interaction with actin. (PMID: 23100250) Oku T … Tsuji T (The Journal of biological chemistry 2012) 3 4
- Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. (PMID: 19097825) Shiow LR … Puck JM (Clinical immunology (Orlando, Fla.) 2009) 4 23
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