CORO1A (coronin 1A)

Gene

• Entrez ID: 11151
• Gene name: Coronin 1A
• Gene symbol: CORO1A
• Synonyms (NCBI Gene): CLABP, CLIPINA, HCORO1, IMD8, TACO, p57
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: 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 com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35967690	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs606231256	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1213680890	GTGC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005787	hsa-miR-221-3p	Western blot	21226887
MIRT005791	hsa-miR-222-3p	Western blot	21226887
MIRT030627	hsa-miR-24-3p	Western blot	20138800
MIRT039639	hsa-miR-615-3p	CLASH	23622248
MIRT2204107	hsa-miR-3652	CLIP-seq
MIRT2204108	hsa-miR-4430	CLIP-seq
MIRT2204109	hsa-miR-4474-3p	CLIP-seq
MIRT2204110	hsa-miR-4505	CLIP-seq
MIRT2204111	hsa-miR-4646-5p	CLIP-seq
MIRT2204107	hsa-miR-3652	CLIP-seq
MIRT2204108	hsa-miR-4430	CLIP-seq
MIRT2204109	hsa-miR-4474-3p	CLIP-seq
MIRT2204110	hsa-miR-4505	CLIP-seq
MIRT2204111	hsa-miR-4646-5p	CLIP-seq
MIRT2447466	hsa-miR-4659a-5p	CLIP-seq
MIRT2447467	hsa-miR-4659b-5p	CLIP-seq
MIRT2447468	hsa-miR-4727-5p	CLIP-seq
MIRT2447469	hsa-miR-4768-5p	CLIP-seq
MIRT2447470	hsa-miR-4769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001771	Process	Immunological synapse formation	IMP	24760828
GO:0001772	Component	Immunological synapse	IDA	24760828
GO:0001772	Component	Immunological synapse	IEA
GO:0001845	Process	Phagolysosome assembly	IMP	12132654
GO:0001891	Component	Phagocytic cup	IDA	17442961
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	IPI	23100250
GO:0003785	Function	Actin monomer binding	IMP	23100250
GO:0005515	Function	Protein binding	IPI	9365277, 11094157, 17652161, 21988832, 25416956, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	17341475
GO:0005737	Component	Cytoplasm	IDA	17341475
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	15800061
GO:0005886	Component	Plasma membrane	IDA	17341475, 17442961
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006906	Process	Vesicle fusion	IEA
GO:0006909	Process	Phagocytosis	IMP	17442961
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0008064	Process	Regulation of actin polymerization or depolymerization	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008092	Function	Cytoskeletal protein binding	ISS
GO:0008360	Process	Regulation of cell shape	IEA
GO:0010631	Process	Epithelial cell migration	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030027	Component	Lamellipodium	IDA	17442961
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IMP	17442961
GO:0030424	Component	Axon	IEA
GO:0030595	Process	Leukocyte chemotaxis	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IDA	24760828
GO:0030864	Component	Cortical actin cytoskeleton	IDA	15800061
GO:0031252	Component	Cell leading edge	IEA
GO:0031339	Process	Negative regulation of vesicle fusion	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031589	Process	Cell-substrate adhesion	IMP	17442961
GO:0032036	Function	Myosin heavy chain binding	IPI	23100250
GO:0032796	Process	Uropod organization	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	24760828
GO:0032991	Component	Protein-containing complex	IDA	11094157
GO:0034097	Process	Response to cytokine	IEA
GO:0038180	Process	Nerve growth factor signaling pathway	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042110	Process	T cell activation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15601263
GO:0043029	Process	T cell homeostasis	IEA
GO:0043320	Process	Natural killer cell degranulation	IMP	24760828
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IDA	11094157
GO:0045087	Process	Innate immune response	NAS	17341475
GO:0045202	Component	Synapse	IEA
GO:0045335	Component	Phagocytic vesicle	IDA	17442961
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050918	Process	Positive chemotaxis	IDA	17442961
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	7758584, 15601263
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	IMP	22364218, 23100250
GO:0051126	Process	Negative regulation of actin nucleation	IDA	17442961
GO:0051129	Process	Negative regulation of cellular component organization	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0061502	Process	Early endosome to recycling endosome transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0072678	Process	T cell migration	IEA
GO:0072679	Process	Thymocyte migration	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:2000406	Process	Positive regulation of T cell migration	IEA

Other IDs

• MIM: 605000
• HGNC: 2252
• e!Ensembl: ENSG00000102879

Protein

• UniProt ID: P31146
• Protein name: Coronin-1A (Coronin-like protein A) (Clipin-A) (Coronin-like protein p57) (Tryptophan aspartate-containing coat protein) (TACO)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08953	DUF1899	4 → 69	Domain of unknown function (DUF1899)	Domain
  PF00400	WD40	72 → 110	WD domain, G-beta repeat	Repeat
  PF00400	WD40	121 → 160	WD domain, G-beta repeat	Repeat
  PF00400	WD40	167 → 204	WD domain, G-beta repeat	Repeat
  PF16300	WD40_4	345 → 387		Repeat
  PF08954	Trimer_CC	410 → 461	Trimerisation motif	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, thymus, spleen, bone marrow and lymph node. Low in lung and gut.
• Sequence:

  MSRQVVRSSKFRHVFGQPAKADQCYEDVRVSQTTWDSGFCAVNPKFVALICEASGGGAFL
  VLPLGKTGRVDKNAPTVCGHTAPVLDIAWCPHNDNVIASGSEDCTVMVWEIPDGGLMLPL
  REPVVTLEGHTKRVGIVAWHTTAQNVLLSAGCDNVIMVWDVGTGAAMLTLGPEVHPDTIY
  SVDWSRDGGLICTSCRDKRVRIIEPRKGTVVAEKDRPHEGTRPVRAVFVSEGKILTTGFS
  RMSERQVALWDTKHLEEPLSLQELDTSSGVLLPFFDPDTNIVYLCGKGDSSIRYFEITSE
  APFLHYLSMFSSKESQRGMGYMPKRGLEVNKCEIARFYKLHERRCEPIAMTVPRKSDLFQ
  EDLYPPTAGPDPALTAEEWLGGRDAGPLLISLKDGYVPPKSRELRVNRGLDTGRRRAAPE
  ASGTPSSDAVSRLEEEMRKLQATVQELQKRLDRLEETVQAK

• Sequence length: 461

Pathways

KEGG:

Phagosome
Tuberculosis

Reactome:

Prevention of phagosomal-lysosomal fusion

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Severe combined immunodeficiency disease	Likely pathogenic	rs2151063606	RCV002266435
Severe combined immunodeficiency due to CORO1A deficiency	Likely pathogenic; Pathogenic	rs2151063274, rs2151063096, rs112728974, rs606231256, rs2543751507, rs2543755846, rs2543756633, rs606231246, rs1213680890, rs397514755	RCV001379004 RCV001897325 RCV001993998 RCV000144854 RCV002933418 RCV003031427 RCV003741698 RCV000033858 RCV000820807 RCV000054815
Sinoatrial node disorder	Likely pathogenic	rs2543751945	RCV002305649

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autism spectrum disorder	Conflicting classifications of pathogenicity	rs2151062416	RCV003126043
CORO1A-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs773468991, rs199752871, rs374849081, rs149867063, rs35967690, rs117288362, rs139024575, rs150857828, rs138146826, rs112123877	RCV003898839 RCV003924120 RCV003934689 RCV003932593 RCV003962348 RCV003945309 RCV003953186 RCV003928123 RCV003943177 RCV003953344

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34337026
Attention Deficit Disorder with Hyperactivity	Associate	19097825
Autism Spectrum Disorder	Associate	19097825
Breast Neoplasms	Associate	38331350
Bronchiectasis	Associate	25073507
Carcinoma Hepatocellular	Associate	27779207
Carcinoma Pancreatic Ductal	Associate	37239355
Carcinoma Renal Cell	Associate	24548857
Chickenpox	Associate	19097825
Cystic Fibrosis	Associate	19454722
Epidermodysplasia Verruciformis	Associate	25073507
Exanthema	Associate	35526384
Griscelli syndrome type 1	Associate	21169636
Hepatitis B	Associate	25073507
Immunologic Deficiency Syndromes	Associate	25073507
Inflammation	Associate	19454722
Leishmaniasis Mucocutaneous	Associate	25073507
Leprosy Tuberculoid	Associate	25073507
Lymphatic Metastasis	Associate	34337026
Lymphoma	Associate	25073507
Lymphopenia	Associate	25073507
Mitochondrial Diseases	Associate	19454722
Molluscum Contagiosum	Associate	25073507
Multiple Myeloma	Stimulate	39231316
Multiple Sclerosis	Associate	23745754
Neoplasms	Stimulate	24548857
Neoplasms	Associate	34189853
Oral Ulcer	Associate	25073507
Osteogenesis imperfecta type 1A	Associate	25073507
Ovarian Neoplasms	Associate	21205084
Severe Combined Immunodeficiency	Associate	19097825, 25073507, 35303369
White Coat Hypertension	Associate	23745754
X Linked Combined Immunodeficiency Diseases	Associate	25073507