ACTN1
HPA
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  • ACTN1
ISOFORM
Isoform resource
Isoform methods
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
Gene descriptioni

Full gene name according to HGNC.

Actinin alpha 1
Protein classi

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

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.

Intracellular
Number of transcriptsi

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

25
HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Tissue specificity HPA (aggregated)i

The aggregated tissue specificity category corresponds to the combined unique specificity categories of all individual isoforms for the gene, based on HPA RNA-seq data

Read more
Enhanced, enriched, low specificity
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Smooth muscle tissue - ECM organization (mainly)
Expression category (HPA)i

The expression category reflects the overall expression pattern for the gene based on expression profiles for all individual isoforms.

Read more
Many expressed
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
TRANSCRIPT OVERVIEW
RNA ISOFORM EXPRESSION (HPA)
Expression
Predicted location
Organ
Expression
Alphabetical
Expression: many expressed
Specificity: enhanced;enriched;low specificity
RNA ISOFORM EXPRESSION (GTEx)
Expression
Predicted location
Organ
Expression
Alphabetical
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.

Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ACTN1-201 P12814
A0A024R694
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
892 aa
103.1 kDa
No 0
ACTN1-202 H9KV75
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
822 aa
94.8 kDa
No 0
ACTN1-203 P12814
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
914 aa
105.6 kDa
No 0
ACTN1-204 P12814
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
887 aa
102.7 kDa
No 0
ACTN1-205 P12814
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
930 aa
107.1 kDa
No 0
ACTN1-206 H7C5W8
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
297 aa
34.3 kDa
No 0
ACTN1-207 H0YJ11
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
207 aa
24.3 kDa
No 0
ACTN1-208 G3V2X9
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
144 aa
16.3 kDa
No 0
ACTN1-209 G3V380
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
72 aa
8.2 kDa
No 0
ACTN1-210 G3V2E8
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
85 aa
9.4 kDa
No 0
ACTN1-213 A0A804HJN7
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
210 aa
23.6 kDa
No 0
ACTN1-214 H0YJW3
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
251 aa
28.8 kDa
No 0
ACTN1-215 G3V2W4
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
238 aa
27.1 kDa
No 0
ACTN1-220 G3V2N5
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
260 aa
29.5 kDa
No 0
ACTN1-221 G3V5M4
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
126 aa
14 kDa
No 0
ACTN1-222 A0A7I2V4Y4
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
895 aa
103.6 kDa
No 0
ACTN1-224 A0A804HII9
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
913 aa
105.4 kDa
No 0
ACTN1-226 A0A804HLF4
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
826 aa
95.9 kDa
No 0
ACTN1-233 A0A804HKE2
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
922 aa
106.5 kDa
No 0
ACTN1-234 H9KV75
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
822 aa
94.8 kDa
No 0
ACTN1-237 A0A804HLD0
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
903 aa
104 kDa
No 0
ACTN1-241 A0A804HL31
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
827 aa
95.2 kDa
No 0
ACTN1-244 A0A804HK61
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
886 aa
102.6 kDa
No 0
ACTN1-246 A0A804HJU8
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
874 aa
101.2 kDa
No 0
ACTN1-247 A0A804HIN7
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
883 aa
102.1 kDa
No 0
Show allShow less

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