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Protein

Alpha-actinin-1

Gene

ACTN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi759 – 770PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi800 – 811PROSITE-ProRule annotationAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-114608 Platelet degranulation
R-HSA-3000170 Syndecan interactions
R-HSA-373753 Nephrin family interactions
R-HSA-446388 Regulation of cytoskeletal remodeling and cell spreading by IPP complex components

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P12814

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alpha-actinin-1
Alternative name(s):
Alpha-actinin cytoskeletal isoform
F-actin cross-linking protein
Non-muscle alpha-actinin-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACTN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000072110.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:163 ACTN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
102575 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12814

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bleeding disorder, platelet-type 15 (BDPLT15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.
See also OMIM:615193
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06991032Q → K in BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization. 1 PublicationCorresponds to variant dbSNP:rs387907346EnsemblClinVar.1
Natural variantiVAR_06991146R → Q in BDPLT15; disorganization of the actin and alpha-actinin 1 filaments. 2 PublicationsCorresponds to variant dbSNP:rs387907348EnsemblClinVar.1
Natural variantiVAR_069912105V → I in BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization. 1 PublicationCorresponds to variant dbSNP:rs387907345EnsemblClinVar.1
Natural variantiVAR_069914225E → K in BDPLT15. 1 PublicationCorresponds to variant dbSNP:rs387907350EnsemblClinVar.1
Natural variantiVAR_069915738R → W in BDPLT15. 1 PublicationCorresponds to variant dbSNP:rs387907349EnsemblClinVar.1
Natural variantiVAR_069916752R → Q in BDPLT15. 1 PublicationCorresponds to variant dbSNP:rs387907347EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
87

MalaCards human disease database

More...
MalaCardsi
ACTN1
MIMi615193 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000072110

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
140957 Autosomal dominant macrothrombocytopenia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACTN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46397817

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000734311 – 892Alpha-actinin-1Add BLAST892

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei6PhosphoserineCombined sources1
Modified residuei12Phosphotyrosine; by FAK11 Publication1
Modified residuei95N6-acetyllysineCombined sources1
Modified residuei195N6-acetyllysineCombined sources1
Modified residuei471PhosphoserineCombined sources1
Modified residuei676N6-acetyllysineCombined sources1
Modified residuei677PhosphoserineCombined sources1
Modified residuei890PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P12814

MaxQB - The MaxQuant DataBase

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MaxQBi
P12814

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P12814

PeptideAtlas

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PeptideAtlasi
P12814

PRoteomics IDEntifications database

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PRIDEi
P12814

ProteomicsDB human proteome resource

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ProteomicsDBi
52871
52872 [P12814-2]
52873 [P12814-3]

2D gel databases

USC-OGP 2-DE database

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OGPi
P12814

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P12814

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P12814

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P12814

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P12814

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000072110 Expressed in 238 organ(s), highest expression level in blood vessel layer

CleanEx database of gene expression profiles

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CleanExi
HS_ACTN1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P12814 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P12814 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004303
HPA006035

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; antiparallel. Interacts with MYOZ2, TTID and LPP (PubMed:10369880, PubMed:11114196, PubMed:12615977). Interacts with DDN (PubMed:16464232). Interacts with PSD. Interacts with MICALL2 (By similarity). Interacts with DNM2 and CTTN. Interacts with PDLIM1. Interacts with PDLIM2. Interacts with PDLIM4 (via PDZ domain) (By similarity).By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106602, 139 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P12814

Database of interacting proteins

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DIPi
DIP-33184N

Protein interaction database and analysis system

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IntActi
P12814, 94 interactors

Molecular INTeraction database

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MINTi
P12814

STRING: functional protein association networks

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STRINGi
9606.ENSP00000377941

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1892
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P12814

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P12814

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P12814

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini31 – 135Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini144 – 250Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST107
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati274 – 384Spectrin 1Add BLAST111
Repeati394 – 499Spectrin 2Add BLAST106
Repeati509 – 620Spectrin 3Add BLAST112
Repeati630 – 733Spectrin 4Add BLAST104
Domaini746 – 781EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini787 – 822EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 247Actin-bindingAdd BLAST247
Regioni274 – 733Interaction with DDN1 PublicationAdd BLAST460

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the alpha-actinin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0035 Eukaryota
COG5069 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155548

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000263418

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050453

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P12814

KEGG Orthology (KO)

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KOi
K05699

Identification of Orthologs from Complete Genome Data

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OMAi
CKWLNTK

Database of Orthologous Groups

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OrthoDBi
EOG091G020R

Database for complete collections of gene phylogenies

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PhylomeDBi
P12814

TreeFam database of animal gene trees

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TreeFami
TF352676

Family and domain databases

Conserved Domains Database

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CDDi
cd00014 CH, 2 hits
cd00051 EFh, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.418.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR026921 Alpha-actinin_1
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011992 EF-hand-dom_pair
IPR014837 EF-hand_Ca_insen
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat

The PANTHER Classification System

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PANTHERi
PTHR43947:SF3 PTHR43947:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00307 CH, 2 hits
PF08726 EFhand_Ca_insen, 1 hit
PF00435 Spectrin, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 2 hits
SM00054 EFh, 2 hits
SM00150 SPEC, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P12814-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDHYDSQQTN DYMQPEEDWD RDLLLDPAWE KQQRKTFTAW CNSHLRKAGT
60 70 80 90 100
QIENIEEDFR DGLKLMLLLE VISGERLAKP ERGKMRVHKI SNVNKALDFI
110 120 130 140 150
ASKGVKLVSI GAEEIVDGNV KMTLGMIWTI ILRFAIQDIS VEETSAKEGL
160 170 180 190 200
LLWCQRKTAP YKNVNIQNFH ISWKDGLGFC ALIHRHRPEL IDYGKLRKDD
210 220 230 240 250
PLTNLNTAFD VAEKYLDIPK MLDAEDIVGT ARPDEKAIMT YVSSFYHAFS
260 270 280 290 300
GAQKAETAAN RICKVLAVNQ ENEQLMEDYE KLASDLLEWI RRTIPWLENR
310 320 330 340 350
VPENTMHAMQ QKLEDFRDYR RLHKPPKVQE KCQLEINFNT LQTKLRLSNR
360 370 380 390 400
PAFMPSEGRM VSDINNAWGC LEQVEKGYEE WLLNEIRRLE RLDHLAEKFR
410 420 430 440 450
QKASIHEAWT DGKEAMLRQK DYETATLSEI KALLKKHEAF ESDLAAHQDR
460 470 480 490 500
VEQIAAIAQE LNELDYYDSP SVNARCQKIC DQWDNLGALT QKRREALERT
510 520 530 540 550
EKLLETIDQL YLEYAKRAAP FNNWMEGAME DLQDTFIVHT IEEIQGLTTA
560 570 580 590 600
HEQFKATLPD ADKERLAILG IHNEVSKIVQ TYHVNMAGTN PYTTITPQEI
610 620 630 640 650
NGKWDHVRQL VPRRDQALTE EHARQQHNER LRKQFGAQAN VIGPWIQTKM
660 670 680 690 700
EEIGRISIEM HGTLEDQLSH LRQYEKSIVN YKPKIDQLEG DHQLIQEALI
710 720 730 740 750
FDNKHTNYTM EHIRVGWEQL LTTIARTINE VENQILTRDA KGISQEQMNE
760 770 780 790 800
FRASFNHFDR DHSGTLGPEE FKACLISLGY DIGNDPQGEA EFARIMSIVD
810 820 830 840 850
PNRLGVVTFQ AFIDFMSRET ADTDTADQVM ASFKILAGDK NYITMDELRR
860 870 880 890
ELPPDQAEYC IARMAPYTGP DSVPGALDYM SFSTALYGES DL
Length:892
Mass (Da):103,058
Last modified:April 13, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6DA3E4D1A0289519
GO
Isoform 2 (identifier: P12814-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     761-787: DHSGTLGPEEFKACLISLGYDIGNDPQ → KKTGMMDTDDFRACLISMGYNM

Show »
Length:887
Mass (Da):102,709
Checksum:iC478EDE4C896789A
GO
Isoform 3 (identifier: P12814-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     787-787: Q → QKKTGMMDTDDFRACLISMGYNM

Show »
Length:914
Mass (Da):105,569
Checksum:i4E2865FA0CA56DC5
GO
Isoform 4 (identifier: P12814-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     761-787: DHSGTLGPEEFKACLISLGYDIGNDPQ → KKTGMMDTDDFRACLISMGYNM
     840-840: K → KLQEGGKMQTAHAAFTPPGFAAVSGRAALRLLDFAAFLTTLSSQ

Show »
Length:930
Mass (Da):107,141
Checksum:iC8E56D242D05FFFC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H9KV75H9KV75_HUMAN
Alpha-actinin-1
ACTN1
822Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5W8H7C5W8_HUMAN
Alpha-actinin-1
ACTN1
297Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJW3H0YJW3_HUMAN
Alpha-actinin-1
ACTN1
251Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ11H0YJ11_HUMAN
Alpha-actinin-1
ACTN1
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2W4G3V2W4_HUMAN
Alpha-actinin-1
ACTN1
238Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5M4G3V5M4_HUMAN
Alpha-actinin-1
ACTN1
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2X9G3V2X9_HUMAN
Alpha-actinin-1
ACTN1
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2N5G3V2N5_HUMAN
Alpha-actinin-1
ACTN1
260Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2E8G3V2E8_HUMAN
Alpha-actinin-1
ACTN1
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V380G3V380_HUMAN
Alpha-actinin-1
ACTN1
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti317R → L in CAA38970 (PubMed:2169343).Curated1
Sequence conflicti321R → H in BAG58135 (PubMed:14702039).Curated1
Sequence conflicti424T → A in BAG58135 (PubMed:14702039).Curated1
Sequence conflicti477Q → L in CAA38970 (PubMed:2169343).Curated1
Sequence conflicti630 – 631RL → SV in CAA33803 (PubMed:2780298).Curated2
Sequence conflicti654 – 656GRI → ARF in CAA38970 (PubMed:2169343).Curated3
Sequence conflicti674Y → D in CAA38970 (PubMed:2169343).Curated1
Sequence conflicti778L → S in CAA38970 (PubMed:2169343).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06991032Q → K in BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization. 1 PublicationCorresponds to variant dbSNP:rs387907346EnsemblClinVar.1
Natural variantiVAR_06991146R → Q in BDPLT15; disorganization of the actin and alpha-actinin 1 filaments. 2 PublicationsCorresponds to variant dbSNP:rs387907348EnsemblClinVar.1
Natural variantiVAR_069912105V → I in BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization. 1 PublicationCorresponds to variant dbSNP:rs387907345EnsemblClinVar.1
Natural variantiVAR_069913197R → W1 PublicationCorresponds to variant dbSNP:rs904887313Ensembl.1
Natural variantiVAR_069914225E → K in BDPLT15. 1 PublicationCorresponds to variant dbSNP:rs387907350EnsemblClinVar.1
Natural variantiVAR_053883707N → T. Corresponds to variant dbSNP:rs7157661Ensembl.1
Natural variantiVAR_069915738R → W in BDPLT15. 1 PublicationCorresponds to variant dbSNP:rs387907349EnsemblClinVar.1
Natural variantiVAR_069916752R → Q in BDPLT15. 1 PublicationCorresponds to variant dbSNP:rs387907347EnsemblClinVar.1
Natural variantiVAR_053884868T → S. Corresponds to variant dbSNP:rs11557769Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_041264761 – 787DHSGT…GNDPQ → KKTGMMDTDDFRACLISMGY NM in isoform 2 and isoform 4. 3 PublicationsAdd BLAST27
Alternative sequenceiVSP_043525787Q → QKKTGMMDTDDFRACLISMG YNM in isoform 3. 1 Publication1
Alternative sequenceiVSP_047763840K → KLQEGGKMQTAHAAFTPPGF AAVSGRAALRLLDFAAFLTT LSSQ in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X15804 mRNA Translation: CAA33803.1
M95178 mRNA Translation: AAA51582.1
EU716325 mRNA Translation: ACE62922.1
DQ496098 mRNA Translation: ABF50047.1
FJ410030 mRNA Translation: ACJ24535.1
BT007207 mRNA Translation: AAP35871.1
AK295099 mRNA Translation: BAG58135.1
AL117694 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80975.1
BC003576 mRNA Translation: AAH03576.1
BC015766 mRNA Translation: AAH15766.1
X55187 mRNA Translation: CAA38970.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45129.1 [P12814-2]
CCDS45130.1 [P12814-3]
CCDS9792.1 [P12814-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S05503 FAHUAA

NCBI Reference Sequences

More...
RefSeqi
NP_001093.1, NM_001102.3 [P12814-1]
NP_001123476.1, NM_001130004.1 [P12814-3]
NP_001123477.1, NM_001130005.1 [P12814-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.235750
Hs.509765

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000193403; ENSP00000193403; ENSG00000072110 [P12814-1]
ENST00000394419; ENSP00000377941; ENSG00000072110 [P12814-3]
ENST00000438964; ENSP00000414272; ENSG00000072110 [P12814-2]
ENST00000538545; ENSP00000439828; ENSG00000072110 [P12814-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
87

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:87

UCSC genome browser

More...
UCSCi
uc001xkl.4 human [P12814-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15804 mRNA Translation: CAA33803.1
M95178 mRNA Translation: AAA51582.1
EU716325 mRNA Translation: ACE62922.1
DQ496098 mRNA Translation: ABF50047.1
FJ410030 mRNA Translation: ACJ24535.1
BT007207 mRNA Translation: AAP35871.1
AK295099 mRNA Translation: BAG58135.1
AL117694 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80975.1
BC003576 mRNA Translation: AAH03576.1
BC015766 mRNA Translation: AAH15766.1
X55187 mRNA Translation: CAA38970.1
CCDSiCCDS45129.1 [P12814-2]
CCDS45130.1 [P12814-3]
CCDS9792.1 [P12814-1]
PIRiS05503 FAHUAA
RefSeqiNP_001093.1, NM_001102.3 [P12814-1]
NP_001123476.1, NM_001130004.1 [P12814-3]
NP_001123477.1, NM_001130005.1 [P12814-2]
UniGeneiHs.235750
Hs.509765

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EYIX-ray1.70A30-253[»]
2EYNX-ray1.80A30-253[»]
2N8YNMR-A743-892[»]
2N8ZNMR-A743-892[»]
ProteinModelPortaliP12814
SMRiP12814
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106602, 139 interactors
CORUMiP12814
DIPiDIP-33184N
IntActiP12814, 94 interactors
MINTiP12814
STRINGi9606.ENSP00000377941

PTM databases

CarbonylDBiP12814
iPTMnetiP12814
PhosphoSitePlusiP12814
SwissPalmiP12814

Polymorphism and mutation databases

BioMutaiACTN1
DMDMi46397817

2D gel databases

OGPiP12814

Proteomic databases

EPDiP12814
MaxQBiP12814
PaxDbiP12814
PeptideAtlasiP12814
PRIDEiP12814
ProteomicsDBi52871
52872 [P12814-2]
52873 [P12814-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
87
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000193403; ENSP00000193403; ENSG00000072110 [P12814-1]
ENST00000394419; ENSP00000377941; ENSG00000072110 [P12814-3]
ENST00000438964; ENSP00000414272; ENSG00000072110 [P12814-2]
ENST00000538545; ENSP00000439828; ENSG00000072110 [P12814-4]
GeneIDi87
KEGGihsa:87
UCSCiuc001xkl.4 human [P12814-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
87
DisGeNETi87
EuPathDBiHostDB:ENSG00000072110.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACTN1
HGNCiHGNC:163 ACTN1
HPAiCAB004303
HPA006035
MalaCardsiACTN1
MIMi102575 gene
615193 phenotype
neXtProtiNX_P12814
OpenTargetsiENSG00000072110
Orphaneti140957 Autosomal dominant macrothrombocytopenia
PharmGKBiPA24

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000155548
HOGENOMiHOG000263418
HOVERGENiHBG050453
InParanoidiP12814
KOiK05699
OMAiCKWLNTK
OrthoDBiEOG091G020R
PhylomeDBiP12814
TreeFamiTF352676

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-3000170 Syndecan interactions
R-HSA-373753 Nephrin family interactions
R-HSA-446388 Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
SIGNORiP12814

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ACTN1 human
EvolutionaryTraceiP12814

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Actinin,_alpha_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
87

Protein Ontology

More...
PROi
PR:P12814

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000072110 Expressed in 238 organ(s), highest expression level in blood vessel layer
CleanExiHS_ACTN1
ExpressionAtlasiP12814 baseline and differential
GenevisibleiP12814 HS

Family and domain databases

CDDicd00014 CH, 2 hits
cd00051 EFh, 1 hit
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR026921 Alpha-actinin_1
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011992 EF-hand-dom_pair
IPR014837 EF-hand_Ca_insen
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
PANTHERiPTHR43947:SF3 PTHR43947:SF3, 1 hit
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF08726 EFhand_Ca_insen, 1 hit
PF00435 Spectrin, 4 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00054 EFh, 2 hits
SM00150 SPEC, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACTN1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P12814
Secondary accession number(s): B3V8S3
, B4DHH3, B7TY16, Q1HE25, Q9BTN1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: April 13, 2004
Last modified: December 5, 2018
This is version 226 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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