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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
q22.1
Chromosome location (bp)
67644988 - 67657569
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization 1. Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations 2,3,4. Involved as well in cell migration and invadopodia formation during wound healing 5,6,7. Required for CD28-mediated stimulation of NF-kappa-B signaling, involved in naive T cells activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells 8,9,10....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q6F5E8 [Direct mapping] Capping protein, Arp2/3 and myosin-I linker protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001726[ruffle] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007163[establishment or maintenance of cell polarity] GO:0010592[positive regulation of lamellipodium assembly] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016477[cell migration] GO:0030011[maintenance of cell polarity] GO:0030027[lamellipodium] GO:0030335[positive regulation of cell migration] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0031252[cell leading edge] GO:0034315[regulation of Arp2/3 complex-mediated actin nucleation] GO:0042995[cell projection] GO:0044319[wound healing, spreading of cells] GO:0044354[macropinosome] GO:0044877[protein-containing complex binding] GO:0045111[intermediate filament cytoskeleton] GO:0051639[actin filament network formation] GO:0061339[establishment or maintenance of monopolar cell polarity] GO:0090091[positive regulation of extracellular matrix disassembly] GO:0110165[cellular anatomical entity] GO:1900029[positive regulation of ruffle assembly] GO:1902745[positive regulation of lamellipodium organization] GO:2000249[regulation of actin cytoskeleton reorganization] GO:2000813[negative regulation of barbed-end actin filament capping]
Q6F5E8 [Direct mapping] Capping protein, Arp2/3 and myosin-I linker protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726[ruffle] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0007163[establishment or maintenance of cell polarity] GO:0010592[positive regulation of lamellipodium assembly] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016477[cell migration] GO:0030011[maintenance of cell polarity] GO:0030027[lamellipodium] GO:0030335[positive regulation of cell migration] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0031252[cell leading edge] GO:0034315[regulation of Arp2/3 complex-mediated actin nucleation] GO:0042995[cell projection] GO:0044319[wound healing, spreading of cells] GO:0044354[macropinosome] GO:0044877[protein-containing complex binding] GO:0045111[intermediate filament cytoskeleton] GO:0051639[actin filament network formation] GO:0061339[establishment or maintenance of monopolar cell polarity] GO:0090091[positive regulation of extracellular matrix disassembly] GO:0110165[cellular anatomical entity] GO:1900029[positive regulation of ruffle assembly] GO:1902745[positive regulation of lamellipodium organization] GO:2000249[regulation of actin cytoskeleton reorganization] GO:2000813[negative regulation of barbed-end actin filament capping]
The Human Protein Atlas project is funded
