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ACTN1

GENERAL INFORMATION

Gene name

 ACTN1

Gene description

 Actinin, alpha 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 14
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 High cytoplasmic and membrane expression in glandular epithelia and neuronal cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Reliability score

 Approved based on 1 antibody.
HPA006035
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Smooth muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ACTN1

Synonyms

Description

 Actinin, alpha 1 (HGNC Symbol)

Entrez gene summary

 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 14

Cytoband

 q24.1

Chromosome location (bp)

 68874143 - 68979440

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000072110 (version 83.38)

Entrez gene

 87

UniProt

 P12814 (UniProt - Evidence at protein level)

neXtProt

 NX_P12814

Antibodypedia

 ACTN1 antibodies

PROTEIN BROWSER
«
ACTN1-001
ACTN1-002
ACTN1-005
ACTN1-006
ACTN1-007
ACTN1-011
ACTN1-012
ACTN1-013
ACTN1-014
ACTN1-015
ACTN1-016
ACTN1-019
ACTN1-020
ACTN1-022
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACTN1-001
ENSP00000193403
ENST00000193403
P12814 [Direct mapping]
Alpha-actinin-1
A0A024R694 [Target identity:100%; Query identity:100%]
Actinin, alpha 1, isoform CRA_a
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
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:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0007596 [blood coagulation]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030168 [platelet activation]
GO:0030198 [extracellular matrix organization]
GO:0030220 [platelet formation]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0034329 [cell junction assembly]
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:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0051764 [actin crosslink formation]
GO:0070062 [extracellular exosome]
GO:1903506 [regulation of nucleic acid-templated transcription]
Show all
 892 aa
103.1 kDa 		No 0
ACTN1-002
ENSP00000414272
ENST00000438964
P12814 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
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:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0007596 [blood coagulation]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030168 [platelet activation]
GO:0030198 [extracellular matrix organization]
GO:0030220 [platelet formation]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0034329 [cell junction assembly]
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:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0051764 [actin crosslink formation]
GO:0070062 [extracellular exosome]
GO:1903506 [regulation of nucleic acid-templated transcription]
Show all
 887 aa
102.7 kDa 		No 0
ACTN1-005
ENSP00000377941
ENST00000394419
P12814 [Direct mapping]
Alpha-actinin-1
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
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:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
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:0007596 [blood coagulation]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030168 [platelet activation]
GO:0030198 [extracellular matrix organization]
GO:0030220 [platelet formation]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0034329 [cell junction assembly]
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: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:1903506 [regulation of nucleic acid-templated transcription]
Show all
 914 aa
105.6 kDa 		No 0
ACTN1-006
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
Plasma proteins
Disease related genes
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:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007015 [actin filament organization]
GO:0007596 [blood coagulation]
GO:0017166 [vinculin binding]
GO:0030018 [Z disc]
GO:0030168 [platelet activation]
GO:0030198 [extracellular matrix organization]
GO:0030220 [platelet formation]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0034329 [cell junction assembly]
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:0048041 [focal adhesion assembly]
GO:0051015 [actin filament binding]
GO:0051271 [negative regulation of cellular component movement]
GO:0051639 [actin filament network formation]
GO:0051764 [actin crosslink formation]
GO:0070062 [extracellular exosome]
GO:1903506 [regulation of nucleic acid-templated transcription]
Show all
 930 aa
107.1 kDa 		No 0
ACTN1-007
ENSP00000366035
ENST00000376839
H9KV75 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
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
 822 aa
94.8 kDa 		No 0
ACTN1-011
ENSP00000450764
ENST00000556433
G3V2N5 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
 261 aa
29.6 kDa 		No 0
ACTN1-012
ENSP00000450903
ENST00000555616
G3V2W4 [Direct mapping]
Alpha-actinin-1
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
 238 aa
27.1 kDa 		No 0
ACTN1-013
ENSP00000451086
ENST00000553659
G3V380 [Direct mapping]
Alpha-actinin-1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
 72 aa
8.2 kDa 		No 0
ACTN1-014
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
 126 aa
14 kDa 		No 0
ACTN1-015
ENSP00000450925
ENST00000553370
G3V2X9 [Direct mapping]
Alpha-actinin-1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
 144 aa
16.3 kDa 		No 0
ACTN1-016
ENSP00000450618
ENST00000553779
G3V2E8 [Direct mapping]
Alpha-actinin-1
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051764 [actin crosslink formation]
Show all
 85 aa
9.4 kDa 		No 0
ACTN1-019
ENSP00000444422
ENST00000544964
H7C5W8 [Direct mapping]
Alpha-actinin-1
Show all
Predicted intracellular proteins
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
ACTN1-020
ENSP00000450625
ENST00000553290
H0YJ11 [Direct mapping]
Alpha-actinin-1
Show all
Predicted intracellular proteins
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
ACTN1-022
ENSP00000452254
ENST00000555075
H0YJW3 [Direct mapping]
Alpha-actinin-1
Show all
Predicted intracellular proteins
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
 251 aa
28.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.