Human Gene ACTN1 (ENST00000394419.9_10) from GENCODE V47lift37
  Description: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. (from UniProt P12814)
Gencode Transcript: ENST00000394419.9_10
Gencode Gene: ENSG00000072110.17_16
Transcript (Including UTRs)
   Position: hg19 chr14:69,340,845-69,446,019 Size: 105,175 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr14:69,341,576-69,445,773 Size: 104,198 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:69,340,845-69,446,019)mRNA (may differ from genome)Protein (914 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCMalacards
MGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ACTN1_HUMAN
DESCRIPTION: RecName: Full=Alpha-actinin-1; AltName: Full=Alpha-actinin cytoskeletal isoform; AltName: Full=F-actin cross-linking protein; AltName: Full=Non-muscle alpha-actinin-1;
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
SUBUNIT: Homodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP. Interacts with PSD (By similarity).
INTERACTION: P12931:SRC; NbExp=2; IntAct=EBI-351710, EBI-621482;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane (By similarity). Cell projection, ruffle (By similarity). Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By similarity).
SIMILARITY: Belongs to the alpha-actinin family.
SIMILARITY: Contains 1 actin-binding domain.
SIMILARITY: Contains 2 CH (calponin-homology) domains.
SIMILARITY: Contains 2 EF-hand domains.
SIMILARITY: Contains 4 spectrin repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACTN1
Diseases sorted by gene-association score: bleeding disorder, platelet-type, 15* (1331), autosomal dominant macrothrombocytopenia* (260), thrombocytopenia-absent radius syndrome (9), arrhythmogenic right ventricular cardiomyopathy (2)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 272.84 RPKM in Esophagus - Muscularis
Total median expression: 3123.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  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 -99.50246-0.404 Picture PostScript Text
3' UTR -177.50731-0.243 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
IPR001589 - Actinin_actin-bd_CS
IPR001715 - CH-domain
IPR011992 - EF-hand-like_dom
IPR014837 - EF-hand_Ca_insen
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00435 - Spectrin repeat
PF08726 - Ca2+ insensitive EF hand
PF11971 - CAMSAP CH domain
PF13202 - EF hand
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand
47576 - Calponin-homology domain, CH-domain
46966 - Spectrin repeat
63491 - BAG domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EYI - X-ray MuPIT 2EYN - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12814
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003725 double-stranded RNA binding
GO:0003779 actin binding
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0017166 vinculin binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0042803 protein homodimerization activity
GO:0044325 ion channel binding
GO:0046872 metal ion binding
GO:0051015 actin filament binding

Biological Process:
GO:0002576 platelet degranulation
GO:0007015 actin filament organization
GO:0030220 platelet formation
GO:0036344 platelet morphogenesis
GO:0042981 regulation of apoptotic process
GO:0048041 focal adhesion assembly
GO:0051017 actin filament bundle assembly
GO:0051271 negative regulation of cellular component movement
GO:0051639 actin filament network formation
GO:0051764 actin crosslink formation
GO:0030168 platelet activation
GO:0070527 platelet aggregation

Cellular Component:
GO:0001725 stress fiber
GO:0001726 ruffle
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005903 brush border
GO:0005911 cell-cell junction
GO:0005916 fascia adherens
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0030054 cell junction
GO:0031093 platelet alpha granule lumen
GO:0031143 pseudopodium
GO:0042995 cell projection
GO:0070062 extracellular exosome
GO:0005884 actin filament


-  Descriptions from all associated GenBank mRNAs
  AK022224 - Homo sapiens cDNA FLJ12162 fis, clone MAMMA1000583.
AK098203 - Homo sapiens cDNA FLJ40884 fis, clone UTERU2000607, highly similar to Alpha-actinin-1.
BC015766 - Homo sapiens actinin, alpha 1, mRNA (cDNA clone MGC:23191 IMAGE:4856734), complete cds.
BC004984 - Homo sapiens cDNA clone IMAGE:2958601, containing frame-shift errors.
BX641076 - Homo sapiens mRNA; cDNA DKFZp686J22226 (from clone DKFZp686J22226).
AK124378 - Homo sapiens cDNA FLJ42387 fis, clone UTERU2037791, highly similar to Human mRNA for alpha-actinin.
X55187 - Human mRNA for alpha-actinin, partial cds.
DQ496098 - Homo sapiens actinin alpha 1 isoform b (ACTN1) mRNA, complete cds, alternatively spliced.
AK294317 - Homo sapiens cDNA FLJ53313 complete cds, highly similar to Alpha-actinin-1.
JD460595 - Sequence 441619 from Patent EP1572962.
AK225782 - Homo sapiens mRNA for actinin, alpha 1 variant, clone: FCC132A11.
BC003576 - Homo sapiens actinin, alpha 1, mRNA (cDNA clone MGC:2358 IMAGE:3547017), complete cds.
GQ891539 - Homo sapiens clone HEL-S-260 epididymis secretory sperm binding protein mRNA, complete cds.
AK295099 - Homo sapiens cDNA FLJ59209 complete cds, highly similar to Alpha-actinin-1.
JD386545 - Sequence 367569 from Patent EP1572962.
X15804 - Human mRNA for alpha-actinin.
JD525936 - Sequence 506960 from Patent EP1572962.
AK298496 - Homo sapiens cDNA FLJ54739 complete cds, highly similar to Alpha-actinin-1.
BC127124 - Homo sapiens actinin, alpha 1, mRNA (cDNA clone IMAGE:40009911), partial cds.
M95178 - Human non-muscle alpha-actinin mRNA, complete cds.
EU716325 - Homo sapiens actinin 1 smooth muscle variant (ACTN1) mRNA, complete cds, alternatively spliced.
FJ410030 - Homo sapiens actinin alpha 1 isoform 3 (ACTN1) mRNA, complete cds, alternatively spliced.
BT007207 - Homo sapiens actinin, alpha 1 mRNA, complete cds.
DQ890778 - Synthetic construct clone IMAGE:100003408; FLH165875.01X; RZPDo839H11160D actinin, alpha 1 (ACTN1) gene, encodes complete protein.
DQ895768 - Synthetic construct Homo sapiens clone IMAGE:100010228; FLH187459.01L; RZPDo839H0762D actinin, alpha 1 (ACTN1) gene, encodes complete protein.
AB590251 - Synthetic construct DNA, clone: pFN21AE2247, Homo sapiens ACTN1 gene for actinin, alpha 1, without stop codon, in Flexi system.
AK295175 - Homo sapiens cDNA FLJ54432 complete cds, highly similar to Alpha-actinin-1.
AJ844628 - Homo sapiens partial mRNA for alpha-actinin 1 (ACTN1 gene).
JD021510 - Sequence 2534 from Patent EP1572962.
JD034316 - Sequence 15340 from Patent EP1572962.
BX248020 - human full-length cDNA clone CS0DB009YA03 of Neuroblastoma of Homo sapiens (human).
Z36782 - H.sapiens (xs125) mRNA, 390bp.
AK299362 - Homo sapiens cDNA FLJ54718 complete cds, highly similar to Alpha-actinin-1.
LF209580 - JP 2014500723-A/17083: Polycomb-Associated Non-Coding RNAs.
LF209581 - JP 2014500723-A/17084: Polycomb-Associated Non-Coding RNAs.
LF329760 - JP 2014500723-A/137263: Polycomb-Associated Non-Coding RNAs.
LF209583 - JP 2014500723-A/17086: Polycomb-Associated Non-Coding RNAs.
LF329763 - JP 2014500723-A/137266: Polycomb-Associated Non-Coding RNAs.
JD343888 - Sequence 324912 from Patent EP1572962.
JD187251 - Sequence 168275 from Patent EP1572962.
JD057189 - Sequence 38213 from Patent EP1572962.
JD104330 - Sequence 85354 from Patent EP1572962.
JD456942 - Sequence 437966 from Patent EP1572962.
JD468152 - Sequence 449176 from Patent EP1572962.
MA565337 - JP 2018138019-A/137263: Polycomb-Associated Non-Coding RNAs.
MA565340 - JP 2018138019-A/137266: Polycomb-Associated Non-Coding RNAs.
MA445157 - JP 2018138019-A/17083: Polycomb-Associated Non-Coding RNAs.
MA445158 - JP 2018138019-A/17084: Polycomb-Associated Non-Coding RNAs.
MA445160 - JP 2018138019-A/17086: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ucalpainPathway - uCalpain and friends in Cell spread
h_cell2cellPathway - Cell to Cell Adhesion Signaling
h_integrinPathway - Integrin Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P12814 (Reactome details) participates in the following event(s):

R-HSA-430308 PARVB interacts with Alpha-actinin
R-HSA-2731149 Syndecan-4 binds ACTN1
R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-451403 Interaction of nephrin with adherens junction-associated proteins
R-HSA-446388 Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
R-HSA-3000170 Syndecan interactions
R-HSA-446353 Cell-extracellular matrix interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-114608 Platelet degranulation
R-HSA-373753 Nephrin family interactions
R-HSA-446728 Cell junction organization
R-HSA-1474244 Extracellular matrix organization
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-1500931 Cell-Cell communication
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ACTN1_HUMAN, B3V8S3, B4DHH3, B7TY16, ENST00000394419.1, ENST00000394419.2, ENST00000394419.3, ENST00000394419.4, ENST00000394419.5, ENST00000394419.6, ENST00000394419.7, ENST00000394419.8, NM_001424024, P12814, Q1HE25, Q9BTN1, uc318wqa.1, uc318wqa.2
UCSC ID: ENST00000394419.9_10
RefSeq Accession: NM_001130004.2
Protein: P12814 (aka ACTN1_HUMAN or AAC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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