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ACTN1
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  • ACTN1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

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.

ACTN1
Synonyms
Gene descriptioni

Full gene name according to HGNC.

Actinin alpha 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
FDA approved drug targets
Human disease related genes
Plasma proteins
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.

Read more
Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

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 14
Cytoband q24.1
Chromosome location (bp) 68874128 - 68979440
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

15
Ensembl ENSG00000072110 (version 103.38)
Entrez gene 87
HGNC HGNC:163
UniProt P12814 (UniProt - Evidence at protein level)
neXtProt NX_P12814
Antibodypedia ACTN1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 7      # Population variants: 404

Antigens:

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On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
ACTN1-201
ACTN1-202
ACTN1-203
ACTN1-204
ACTN1-205
ACTN1-206
ACTN1-207
ACTN1-208
ACTN1-209
ACTN1-210
ACTN1-214
ACTN1-215
ACTN1-220
ACTN1-221
ACTN1-222
»


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.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ACTN1-201
ENSP00000193403
ENST00000193403
P12814 [Direct mapping]
Alpha-actinin-1
A0A024R694 [Target identity:100%; Query identity:100%]
Alpha-actinin cytoskeletal isoform
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001725 [stress fiber]
GO:0001726 [ruffle]
GO:0002576 [platelet degranulation]
GO:0003725 [double-stranded RNA binding]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0016020 [membrane]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030220 [platelet formation]
GO:0030374 [nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0036344 [platelet morphogenesis]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0042995 [cell projection]
GO:0044325 [ion channel binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0046872 [metal ion binding]
GO:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0051764 [actin crosslink formation]
GO:0070062 [extracellular exosome]
GO:0098978 [glutamatergic synapse]
GO:0099173 [postsynapse organization]
GO:0099186 [structural constituent of postsynapse]
Show all
892 aa
103.1 kDa
No 0
ACTN1-202
ENSP00000366035
ENST00000376839
H9KV75 [Direct mapping]
Alpha-actinin cytoskeletal isoform
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0003779 [actin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0016020 [membrane]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0042995 [cell projection]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
822 aa
94.8 kDa
No 0
ACTN1-203
ENSP00000377941
ENST00000394419
P12814 [Direct mapping]
Alpha-actinin-1
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001725 [stress fiber]
GO:0001726 [ruffle]
GO:0002576 [platelet degranulation]
GO:0003725 [double-stranded RNA binding]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0016020 [membrane]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030220 [platelet formation]
GO:0030374 [nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0036344 [platelet morphogenesis]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0042995 [cell projection]
GO:0044325 [ion channel binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0046872 [metal ion binding]
GO:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0070062 [extracellular exosome]
GO:0098978 [glutamatergic synapse]
GO:0099173 [postsynapse organization]
GO:0099186 [structural constituent of postsynapse]
Show all
914 aa
105.6 kDa
No 0
ACTN1-204
ENSP00000414272
ENST00000438964
P12814 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001725 [stress fiber]
GO:0001726 [ruffle]
GO:0002576 [platelet degranulation]
GO:0003725 [double-stranded RNA binding]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0016020 [membrane]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030220 [platelet formation]
GO:0030374 [nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0036344 [platelet morphogenesis]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0042995 [cell projection]
GO:0044325 [ion channel binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0046872 [metal ion binding]
GO:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0051764 [actin crosslink formation]
GO:0070062 [extracellular exosome]
GO:0098978 [glutamatergic synapse]
GO:0099173 [postsynapse organization]
GO:0099186 [structural constituent of postsynapse]
Show all
887 aa
102.7 kDa
No 0
ACTN1-205
ENSP00000439828
ENST00000538545
P12814 [Direct mapping]
Alpha-actinin-1
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001725 [stress fiber]
GO:0001726 [ruffle]
GO:0002576 [platelet degranulation]
GO:0003725 [double-stranded RNA binding]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005903 [brush border]
GO:0005911 [cell-cell junction]
GO:0005916 [fascia adherens]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0016020 [membrane]
GO:0017166 [vinculin binding]
GO:0030017 [sarcomere]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030220 [platelet formation]
GO:0030374 [nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0036344 [platelet morphogenesis]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0042995 [cell projection]
GO:0044325 [ion channel binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0046872 [metal ion binding]
GO:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0051764 [actin crosslink formation]
GO:0070062 [extracellular exosome]
GO:0098978 [glutamatergic synapse]
GO:0099173 [postsynapse organization]
GO:0099186 [structural constituent of postsynapse]
Show all
930 aa
107.1 kDa
No 0
ACTN1-206
ENSP00000444422
ENST00000544964
H7C5W8 [Direct mapping]
Alpha-actinin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
297 aa
34.3 kDa
No 0
ACTN1-207
ENSP00000450625
ENST00000553290
H0YJ11 [Direct mapping]
Alpha-actinin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
207 aa
24.3 kDa
No 0
ACTN1-208
ENSP00000450925
ENST00000553370
G3V2X9 [Direct mapping]
Alpha-actinin-1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
Show all
144 aa
16.3 kDa
No 0
ACTN1-209
ENSP00000451086
ENST00000553659
G3V380 [Direct mapping]
Alpha-actinin-1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
72 aa
8.2 kDa
No 0
ACTN1-210
ENSP00000450618
ENST00000553779
G3V2E8 [Direct mapping]
Alpha-actinin-1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
Show all
85 aa
9.4 kDa
No 0
ACTN1-214
ENSP00000452254
ENST00000555075
H0YJW3 [Direct mapping]
Alpha-actinin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
Show all
251 aa
28.8 kDa
No 0
ACTN1-215
ENSP00000450903
ENST00000555616
G3V2W4 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
Show all
238 aa
27.1 kDa
No 0
ACTN1-220
ENSP00000450764
ENST00000556433
G3V2N5 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
Show all
260 aa
29.5 kDa
No 0
ACTN1-221
ENSP00000452423
ENST00000556571
G3V5M4 [Direct mapping]
Alpha-actinin-1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
Show all
126 aa
14 kDa
No 0
ACTN1-222
ENSP00000504355
ENST00000679147
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
895 aa
103.6 kDa
No 0

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The Human Protein Atlas project is funded
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