Human Gene ACTB (ENST00000331789.9) Description and Page Index
  Description: Homo sapiens actin, beta (ACTB), mRNA. (from RefSeq NM_001101)
RefSeq Summary (NM_001101): This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK222925.1, BC014861.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END##
Gencode Transcript: ENST00000331789.9
Gencode Gene: ENSG00000075624.13
Transcript (Including UTRs)
   Position: hg38 chr7:5,527,151-5,530,709 Size: 3,559 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr7:5,527,748-5,529,657 Size: 1,910 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2016-03-28

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:5,527,151-5,530,709)mRNA (may differ from genome)Protein (375 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGepis Tissue
HGNCHPRDLynxMGIMOPEDOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: Q1KLZ0_HUMAN
DESCRIPTION: SubName: Full=HCG15971, isoform CRA_a ; SubName: Full=PS1TP5-binding protein 1 ;
SIMILARITY: Belongs to the actin family.

-  MalaCards Disease Associations
  MalaCards Gene Search: ACTB
Diseases sorted by gene-association score: dystonia, juvenile-onset* (15), baraitser-winter syndrome 1* (15), baraitser-winter syndrome* (15), developmental malformations - deafness - dystonia* (15)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4754.23 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 74748.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.70192-0.436 Picture PostScript Text
3' UTR -152.70597-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004000 - Actin
IPR020902 - Actin/actin-like_CS
IPR004001 - Actin_CS

Pfam Domains:
PF00022 - Actin

ModBase Predicted Comparative 3D Structure on Q1KLZ0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsembl WormBaseSGD
Protein SequenceProtein SequenceProtein Sequence Protein SequenceProtein Sequence
AlignmentAlignmentAlignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0019901 protein kinase binding

Biological Process:
GO:0007409 axonogenesis

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0030424 axon
GO:0030863 cortical cytoskeleton
GO:0043234 protein complex


-  Descriptions from all associated GenBank mRNAs
  BC009636 - Homo sapiens, clone IMAGE:3892332, mRNA.
BC012854 - Homo sapiens actin, beta, mRNA (cDNA clone IMAGE:3863361), partial cds.
AK222925 - Homo sapiens mRNA for beta actin variant, clone: HRC07191.
BC008633 - Homo sapiens, actin, beta, clone IMAGE:4179564, mRNA, partial cds.
BC004251 - Homo sapiens actin, beta, mRNA (cDNA clone MGC:10559 IMAGE:3623067), complete cds.
BC001301 - Homo sapiens actin, beta, mRNA (cDNA clone MGC:5475 IMAGE:3451917), complete cds.
BC002409 - Homo sapiens actin, beta, mRNA (cDNA clone MGC:8647 IMAGE:2961617), complete cds.
BC023204 - Homo sapiens actin, beta, mRNA (cDNA clone IMAGE:3461395), containing frame-shift errors.
BC013835 - Homo sapiens actin, beta, mRNA (cDNA clone IMAGE:4152631).
X63432 - H.sapiens ACTB mRNA for mutant beta-actin (beta'-actin).
BC014861 - Homo sapiens actin, beta, mRNA (cDNA clone MGC:8968 IMAGE:3870487), complete cds.
BC013380 - Homo sapiens actin, beta, mRNA (cDNA clone MGC:16525 IMAGE:4025526), complete cds.
BC016045 - Homo sapiens actin, beta, mRNA (cDNA clone MGC:20387 IMAGE:4564532), complete cds.
BC014401 - Homo sapiens cDNA clone IMAGE:3504279, containing frame-shift errors.
AK025375 - Homo sapiens cDNA: FLJ21722 fis, clone COLF0522, highly similar to HSACTB Homo sapiens ACTB mRNA for mutant beta-actin (beta'-actin).
AK223032 - Homo sapiens mRNA for beta actin variant, clone: JTH03396.
AK225414 - Homo sapiens mRNA for beta actin variant, clone: HRC08987.
FW577653 - WO 2010131645-A/10: Synthesis method and amplification method of double stranded DNA corresponding to RNA.
JB343259 - Sequence 10 from Patent EP2431465.
X00351 - Human mRNA for beta-actin.
AK125561 - Homo sapiens cDNA FLJ43573 fis, clone RECTM2001691, highly similar to Actin, cytoplasmic 2.
AK058019 - Homo sapiens cDNA FLJ25290 fis, clone STM07156, highly similar to ACTIN, CYTOPLASMIC 1.
AK098751 - Homo sapiens cDNA FLJ25885 fis, clone CBR02968, highly similar to ACTIN, CYTOPLASMIC TYPE 5.
AK130062 - Homo sapiens cDNA FLJ26552 fis, clone LNF01613, highly similar to Actin, cytoplasmic 1.
AK130157 - Homo sapiens cDNA FLJ26647 fis, clone MPE04710, highly similar to Actin, cytoplasmic 1.
AK309997 - Homo sapiens cDNA, FLJ17039.
JD416803 - Sequence 397827 from Patent EP1572962.
JD214141 - Sequence 195165 from Patent EP1572962.
AK223055 - Homo sapiens mRNA for beta actin variant, clone: KAT00430.
V00478 - Human mRNA fragment encoding cytoplasmic actin. (isolated from cultured epidermal cells grown from human foreskin).
JD025627 - Sequence 6651 from Patent EP1572962.
JD046617 - Sequence 27641 from Patent EP1572962.
JD033295 - Sequence 14319 from Patent EP1572962.
JD044360 - Sequence 25384 from Patent EP1572962.
AK304552 - Homo sapiens cDNA FLJ52842 complete cds, highly similar to Actin, cytoplasmic 1.
AK308277 - Homo sapiens cDNA, FLJ98225.
JD499031 - Sequence 480055 from Patent EP1572962.
JD301929 - Sequence 282953 from Patent EP1572962.
AK301372 - Homo sapiens cDNA FLJ55253 complete cds, highly similar to Actin, cytoplasmic 1.
AK316361 - Homo sapiens cDNA, FLJ79260 complete cds, highly similar to Actin, cytoplasmic 2.
DL491991 - Novel nucleic acids.
E06721 - cDNA encoding human mutated beta prime-actin.
DL490543 - Novel nucleic acids.
DQ890960 - Synthetic construct clone IMAGE:100003590; FLH168003.01X; RZPDo839A1192D actin, beta (ACTB) gene, encodes complete protein.
DQ471327 - Homo sapiens PS1TP5-binding protein 1 (PS1TP5BP1) mRNA, complete cds.
KJ896369 - Synthetic construct Homo sapiens clone ccsbBroadEn_05763 ACTB gene, encodes complete protein.
KR710454 - Synthetic construct Homo sapiens clone CCSBHm_00012760 ACTB (ACTB) mRNA, encodes complete protein.
KR710455 - Synthetic construct Homo sapiens clone CCSBHm_00012761 ACTB (ACTB) mRNA, encodes complete protein.
DQ894128 - Synthetic construct Homo sapiens clone IMAGE:100008588; FLH167999.01L; RZPDo839A1191D actin, beta (ACTB) gene, encodes complete protein.
AB385102 - Synthetic construct DNA, clone: pF1KB5455, Homo sapiens ACTB gene for actin, cytoplasmic 1, complete cds, without stop codon, in Flexi system.
DQ407611 - Homo sapiens beta-actin mRNA, partial cds.
HQ154074 - Homo sapiens beta-actin mRNA, partial cds.
EF036500 - Homo sapiens beta-actin mRNA, partial cds.
M28424 - Human beta-actin mRNA, partial cds.
CU680416 - Synthetic construct Homo sapiens gateway clone IMAGE:100017100 5' read ACTB mRNA.
DL491980 - Novel nucleic acids.
DL490533 - Novel nucleic acids.
JD029524 - Sequence 10548 from Patent EP1572962.
BC113036 - Homo sapiens actin, beta, mRNA (cDNA clone IMAGE:40021898), partial cds.
JD031507 - Sequence 12531 from Patent EP1572962.
DQ600288 - Homo sapiens piRNA piR-38354, complete sequence.
HW916134 - JP 2015503356-A/11: SYSTEM AND METHOD OF DETECTING RNAS ALTERED BY CANCER IN PERIPHERAL BLOOD.
EF095209 - Homo sapiens beta-actin mRNA, partial cds.
LQ021071 - Sequence 14 from Patent WO2015144924.
DL492327 - Novel nucleic acids.
DL490817 - Novel nucleic acids.
DL492006 - Novel nucleic acids.
JD025603 - Sequence 6627 from Patent EP1572962.
DL490558 - Novel nucleic acids.
K00790 - Human fibroblast beta-actin mRNA, 5' end.
D28354 - Homo sapiens mRNA for beta-actin, 5'UTR region.
HW581703 - JP 2014513065-A/32: Effective Amounts of (3aR)-1,3a,8-Trimethyl-1,2,3,3a,8,8a-hexahydropyrrolo[2,3 b]indol-5-yl Phenylcarbamate and Methods Thereof.
JC442393 - Sequence 32 from Patent EP2683242.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04520 - Adherens junction
hsa04530 - Tight junction
hsa04670 - Leukocyte transendothelial migration
hsa04810 - Regulation of actin cytoskeleton
hsa05100 - Bacterial invasion of epithelial cells
hsa05110 - Vibrio cholerae infection
hsa05130 - Pathogenic Escherichia coli infection
hsa05131 - Shigellosis
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy
hsa05416 - Viral myocarditis

BioCarta from NCI Cancer Genome Anatomy Project
h_hSWI-SNFpathway - Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes

-  Other Names for This Gene
  Alternate Gene Symbols: hCG_15971 , NM_001101, PS1TP5BP1 , Q1KLZ0, Q1KLZ0_HUMAN
UCSC ID: uc003sot.5
RefSeq Accession: NM_001101
Protein: Q1KLZ0 CCDS: CCDS5341.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ACTB:
baraitser-winter (Baraitser-Winter Cerebrofrontofacial Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.