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Entry version 166 (17 Jun 2020)
Sequence version 1 (01 May 1999)
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Protein

Actin-like protein 6B

Gene

ACTL6B

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

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity). Essential for neuronal maturation and dendrite development (PubMed:31031012).2 PublicationsBy similarity1 Publication

<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 functionChromatin regulator
Biological processNeurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O94805

SIGNOR Signaling Network Open Resource

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SIGNORi
O94805

<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%5Fand%5Ftaxonomy%5Fsection">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:
Actin-like protein 6BCurated
Alternative name(s):
53 kDa BRG1-associated factor B
Actin-related protein Baf53b
ArpNalpha
BRG1-associated factor 53B
Short name:
BAF53B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ACTL6BImported
Synonyms:ACTL6, BAF53B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000077080.9

Human Gene Nomenclature Database

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HGNCi
HGNC:160 ACTL6B

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612458 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O94805

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Epileptic encephalopathy, early infantile, 76 (EIEE76)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE76 is an autosomal recessive form that may result in death in childhood.
Related information in OMIM
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_08212497 – 426Missing in EIEE76. 1 PublicationAdd BLAST330
Natural variantiVAR_082125130R → Q in EIEE76; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757603505Ensembl.1
Natural variantiVAR_082126147Missing in EIEE76; unknown pathological significance. 1 Publication1
Natural variantiVAR_082127186 – 426Missing in EIEE76. 1 PublicationAdd BLAST241
Natural variantiVAR_082128206L → P in EIEE76. 1 Publication1
Natural variantiVAR_082129242 – 426Missing in EIEE76. 1 PublicationAdd BLAST185
Natural variantiVAR_082130247 – 426Missing in EIEE76. 1 PublicationAdd BLAST180
Natural variantiVAR_082131274 – 426Missing in EIEE76. 1 PublicationAdd BLAST153
Natural variantiVAR_082132284 – 426Missing in EIEE76. 1 PublicationAdd BLAST143
Natural variantiVAR_082133333 – 426Missing in EIEE76. 1 PublicationAdd BLAST94
Natural variantiVAR_082135349G → S in EIEE76. 2 PublicationsCorresponds to variant dbSNP:rs955171017EnsemblClinVar.1
Natural variantiVAR_082136411 – 426Missing in EIEE76. 1 PublicationAdd BLAST16
Natural variantiVAR_082137425 – 426Missing in EIEE76; unknown pathological significance. 1 Publication2
Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08212377D → G in IDDSSAD; unknown pathological significance. 1 Publication1
Natural variantiVAR_082134343G → R in IDDSSAD; probable gain-of-function mutation. 1 PublicationCorresponds to variant dbSNP:rs1131692228EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51412

MalaCards human disease database

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MalaCardsi
ACTL6B
MIMi618468 phenotype
618470 phenotype

Open Targets

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OpenTargetsi
ENSG00000077080

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

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Orphaneti
528084 Non-specific syndromic intellectual disability
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24482

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O94805 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ACTL6B

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000891351 – 426Actin-like protein 6BAdd BLAST426

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O94805

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O94805

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O94805

MaxQB - The MaxQuant DataBase

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MaxQBi
O94805

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

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PaxDbi
O94805

PeptideAtlas

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PeptideAtlasi
O94805

PRoteomics IDEntifications database

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PRIDEi
O94805

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
50445

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O94805

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

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PhosphoSitePlusi
O94805

<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
ENSG00000077080 Expressed in right hemisphere of cerebellum and 105 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O94805 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O94805 HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000077080 Tissue enriched (brain)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170 and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:22952240, PubMed:26601204).

Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1 and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:22952240, PubMed:26601204).

Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A or SMARCD2/BAF60B or SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (ACTB). Note that the nBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204).

2 PublicationsBy similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
119529, 32 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-4223 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
CPX-4224 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O94805

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O94805

Protein interaction database and analysis system

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IntActi
O94805, 24 interactors

Molecular INTeraction database

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MINTi
O94805

STRING: functional protein association networks

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STRINGi
9606.ENSP00000160382

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
O94805 protein

<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

3D structure databases

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

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SMRi
O94805

Database of comparative protein structure models

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ModBasei
Search...

<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

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>Regioni39 – 82Essential for mediating its function in dendritic development; may contribute to neuronal-specific targetingBy similarityAdd BLAST44

<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 actin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0679 Eukaryota
COG5277 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160860

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_027965_6_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O94805

KEGG Orthology (KO)

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KOi
K11652

Identification of Orthologs from Complete Genome Data

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OMAi
MWMSKSE

Database of Orthologous Groups

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OrthoDBi
649708at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O94805

TreeFam database of animal gene trees

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TreeFami
TF312863

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004000 Actin
IPR004001 Actin_CS
IPR043129 ATPase_NBD

The PANTHER Classification System

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PANTHERi
PTHR11937 PTHR11937, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00022 Actin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00190 ACTIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00268 ACTIN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53067 SSF53067, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00432 ACTINS_2, 1 hit

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O94805-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSGGVYGGDE VGALVFDIGS FSVRAGYAGE DCPKADFPTT VGLLAAEEGG
60 70 80 90 100
GLELEGDKEK KGKIFHIDTN ALHVPRDGAE VMSPLKNGMI EDWECFRAIL
110 120 130 140 150
DHTYSKHVKS EPNLHPVLMS EAPWNTRAKR EKLTELMFEQ YNIPAFFLCK
160 170 180 190 200
TAVLTAFANG RSTGLVLDSG ATHTTAIPVH DGYVLQQGIV KSPLAGDFIS
210 220 230 240 250
MQCRELFQEM AIDIIPPYMI AAKEPVREGA PPNWKKKEKL PQVSKSWHNY
260 270 280 290 300
MCNEVIQDFQ ASVLQVSDSP YDEQVAAQMP TVHYEMPNGY NTDYGAERLR
310 320 330 340 350
IPEGLFDPSN VKGLSGNTML GVGHVVTTSI GMCDIDIRPG LYGSVIVTGG
360 370 380 390 400
NTLLQGFTDR LNRELSQKTP PSMRLKLIAS NSTMERKFSP WIGGSILASL
410 420
GTFQQMWISK QEYEEGGKQC VERKCP
Length:426
Mass (Da):46,877
Last modified:May 1, 1999 - v1
<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:i6E9CEBABB8C81E64
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JQT4C9JQT4_HUMAN
Actin-like protein 6B
ACTL6B
66Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC78795 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08212377D → G in IDDSSAD; unknown pathological significance. 1 Publication1
Natural variantiVAR_08212497 – 426Missing in EIEE76. 1 PublicationAdd BLAST330
Natural variantiVAR_082125130R → Q in EIEE76; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757603505Ensembl.1
Natural variantiVAR_082126147Missing in EIEE76; unknown pathological significance. 1 Publication1
Natural variantiVAR_082127186 – 426Missing in EIEE76. 1 PublicationAdd BLAST241
Natural variantiVAR_082128206L → P in EIEE76. 1 Publication1
Natural variantiVAR_082129242 – 426Missing in EIEE76. 1 PublicationAdd BLAST185
Natural variantiVAR_082130247 – 426Missing in EIEE76. 1 PublicationAdd BLAST180
Natural variantiVAR_082131274 – 426Missing in EIEE76. 1 PublicationAdd BLAST153
Natural variantiVAR_082132284 – 426Missing in EIEE76. 1 PublicationAdd BLAST143
Natural variantiVAR_082133333 – 426Missing in EIEE76. 1 PublicationAdd BLAST94
Natural variantiVAR_082134343G → R in IDDSSAD; probable gain-of-function mutation. 1 PublicationCorresponds to variant dbSNP:rs1131692228EnsemblClinVar.1
Natural variantiVAR_082135349G → S in EIEE76. 2 PublicationsCorresponds to variant dbSNP:rs955171017EnsemblClinVar.1
Natural variantiVAR_082136411 – 426Missing in EIEE76. 1 PublicationAdd BLAST16
Natural variantiVAR_082137425 – 426Missing in EIEE76; unknown pathological significance. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF053356 Genomic DNA Translation: AAC78795.1 Sequence problems.
AB015906 mRNA Translation: BAA74576.1
AF041475 mRNA Translation: AAD54678.1
AK314940 mRNA Translation: BAG37446.1
AC099394 Genomic DNA Translation: AAP21874.1
CH236956 Genomic DNA Translation: EAL23823.1
CH471091 Genomic DNA Translation: EAW76502.1
BC020944 mRNA Translation: AAH20944.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS5702.1

NCBI Reference Sequences

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RefSeqi
NP_057272.1, NM_016188.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000160382; ENSP00000160382; ENSG00000077080

Database of genes from NCBI RefSeq genomes

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GeneIDi
51412

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51412

UCSC genome browser

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UCSCi
uc003uvy.4 human

<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
AF053356 Genomic DNA Translation: AAC78795.1 Sequence problems.
AB015906 mRNA Translation: BAA74576.1
AF041475 mRNA Translation: AAD54678.1
AK314940 mRNA Translation: BAG37446.1
AC099394 Genomic DNA Translation: AAP21874.1
CH236956 Genomic DNA Translation: EAL23823.1
CH471091 Genomic DNA Translation: EAW76502.1
BC020944 mRNA Translation: AAH20944.1
CCDSiCCDS5702.1
RefSeqiNP_057272.1, NM_016188.4

3D structure databases

SMRiO94805
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119529, 32 interactors
ComplexPortaliCPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-4223 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
CPX-4224 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant
CORUMiO94805
ELMiO94805
IntActiO94805, 24 interactors
MINTiO94805
STRINGi9606.ENSP00000160382

PTM databases

iPTMnetiO94805
PhosphoSitePlusiO94805

Polymorphism and mutation databases

BioMutaiACTL6B

Proteomic databases

EPDiO94805
jPOSTiO94805
MassIVEiO94805
MaxQBiO94805
PaxDbiO94805
PeptideAtlasiO94805
PRIDEiO94805
ProteomicsDBi50445

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
30798 187 antibodies

The DNASU plasmid repository

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DNASUi
51412

Genome annotation databases

EnsembliENST00000160382; ENSP00000160382; ENSG00000077080
GeneIDi51412
KEGGihsa:51412
UCSCiuc003uvy.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51412
DisGeNETi51412
EuPathDBiHostDB:ENSG00000077080.9

GeneCards: human genes, protein and diseases

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GeneCardsi
ACTL6B
HGNCiHGNC:160 ACTL6B
HPAiENSG00000077080 Tissue enriched (brain)
MalaCardsiACTL6B
MIMi612458 gene
618468 phenotype
618470 phenotype
neXtProtiNX_O94805
OpenTargetsiENSG00000077080
Orphaneti528084 Non-specific syndromic intellectual disability
442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA24482

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0679 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00940000160860
HOGENOMiCLU_027965_6_0_1
InParanoidiO94805
KOiK11652
OMAiMWMSKSE
OrthoDBi649708at2759
PhylomeDBiO94805
TreeFamiTF312863

Enzyme and pathway databases

ReactomeiR-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SignaLinkiO94805
SIGNORiO94805

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
51412 4 hits in 800 CRISPR screens

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

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ChiTaRSi
ACTL6B human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACTL6B

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

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GenomeRNAii
51412
PharosiO94805 Tbio

Protein Ontology

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PROi
PR:O94805
RNActiO94805 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000077080 Expressed in right hemisphere of cerebellum and 105 other tissues
ExpressionAtlasiO94805 baseline and differential
GenevisibleiO94805 HS

Family and domain databases

InterProiView protein in InterPro
IPR004000 Actin
IPR004001 Actin_CS
IPR043129 ATPase_NBD
PANTHERiPTHR11937 PTHR11937, 1 hit
PfamiView protein in Pfam
PF00022 Actin, 1 hit
PRINTSiPR00190 ACTIN
SMARTiView protein in SMART
SM00268 ACTIN, 1 hit
SUPFAMiSSF53067 SSF53067, 2 hits
PROSITEiView protein in PROSITE
PS00432 ACTINS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiACL6B_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: O94805
Secondary accession number(s): A4D2D0, O75421
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: May 1, 1999
Last modified: June 17, 2020
This is version 166 of the entry and version 1 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

Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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