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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
ACTN1 87 actinin, alpha 1  14 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
22188913   2012Cell line : -

Source : Peking Union Medical College Hospital

Sample Type : CRC tumor

No. of Sample : 24

Stage : TNM Stage I,II

Microarray analysisDown-regulation--

25860875   2015Cell line : DLD 1, HT 29, LoVo, NCI H508, and Caco 2, SW480

Source : JCRB Cell Bank (Osaka, Japan), ATCC

Sample Type : -

No. of Sample : -

Stage : -

Transfection,RNA interference ,Immunofluorescence microscopy,Western blottingDown-regulation-ZYX defective binding to ACTN4, which occupies focal adhesions instead of ACTN1, induces the formation of immature focal adhesions, resulting in the enhancement of cell motility and invasion.


Gene Details



NC_000014.8 (69340840..69446083, complement)

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Gene Type protein coding
Gene Family EF-hand domain containing
Description Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]  
Chromosome 14
Location 14q24.1
Start 69340840  
End 69446083  
Strand -  
Gene Sequence

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Length 105244  
OMIM ID 102575   
HGNC ID HGNC:163   
Unigene ID Hs.235750   
Ensembl ID ENSG00000072110   
PharmGKB ID PA24   

mRNA Information


mRNA ID NM_001130005.1
Exon join(1..415,53695..53809,58242..58361,67125..67211, 69325..69412,69971..70049,74631..74712,76805..76890, 85620..85712,87084..87314,89081..89228,93792..93942, 94484..94592,95059..95199,96312..96494,96775..96909, 98378..98557,99259..99405,100844..100909,102127..102285, 104350..105244)  
mRNA Sequence

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Length 3728  



CDS Information


   
Location 311..2974
CDS Sequence

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CCDS ID CCDS45129.1



Protein Information


      
Protein IDNP_001123477.1
Protein Nameactinin, alpha 1
Molecular Wt. (Da)102579
Protein Sequence

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Length 887  
Uniprot IDP16422
Ensembl Protein ID ENSP00000263735  



Post-translational Modification Information (Source : HPRD)


Residue Type site
YPhosphorylation12
YDephosphorylation12
YPhosphorylation193;-
SPhosphorylation140;-
KAcetylation95
KAcetylation195
KAcetylation676
TPhosphorylation50

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                      
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
135ADORA2A43NP_000666.2in vitro;yeast 2-hybrid12837758   
815CAMK2A6532NP_057065.2yeast 2-hybrid12223541   
2395FXN6013NP_000135.2yeast 2-hybrid16713569   
4110MAGEA112281NP_005357.2yeast 2-hybrid16189514   
6311ATXN23307NP_002964.3yeast 2-hybrid16713569   
6714SRC1819NP_005408.1in vitro;in vivo16291744   
7414VCL1900NP_054706.1in vitro15988023   
7518XRCC415951NP_071801.1yeast 2-hybrid16189514   
8161COIL2605NP_004636.1yeast 2-hybrid16713569   
8328GFI1B5088NP_004179.3yeast 2-hybrid16713569   


Pathway Information


                                                      
Pathway Name Pathway ID
Adherens junction hsa04520
Amoebiasis hsa05146
Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412
Focal adhesion hsa04510
Leukocyte transendothelial migration hsa04670
Regulation of actin cytoskeleton hsa04810
Systemic lupus erythematosus hsa05322
Tight junction hsa04530
Viral carcinogenesis hsa05203


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd00176395-622  SPEC
cl02488395-622  SPEC superfamily
cd00014145-249  CH
cl00030145-249  CH superfamily
cd0001433-135  CH
cl0003033-135  CH superfamily
cd00176277-498  SPEC
cl02488277-498  SPEC superfamily
cd00051750-817  EFh
cl08302750-817  EFh superfamily
pfam00307147-250  CH
pfam00435394-499  Spectrin
smart00033148-245  CH
pfam0030734-134  CH
smart0003335-133  CH
smart00150397-498  SPEC
cd00176510-735  SPEC
pfam00435509-620  Spectrin
pfam11971154-228  CAMSAP_CH
pfam00435274-384  Spectrin
pfam00435634-733  Spectrin
cl02488634-733  SPEC superfamily
smart00150513-618  SPEC
pfam13405750-779  EF-hand_6
cl23634750-779  EF-hand_6 superfamily
smart00054750-778  EFh
cl23347750-778  EFh superfamily
pfam00036750-778  EF-hand_1
cl23489750-778  EF-hand_1 superfamily
pfam08726822-888  EFhand_Ca_insen
pfam13499758-816  EF-hand_7
COG506929-292  SAC6
PTZ00184740-849  PTZ00184
PTZ00183742-850  PTZ00183
COG5126743-852  FRQ1
COG5126749-822  FRQ1
COG506937-210  SAC6
COG0419250-516  SbcC
COG0497427-516  RecN


Ontology Information


   
HPRD ID7519
Molecular ClassCytoskeletal associated protein
Molecular FunctionStructural constituent of cytoskeleton (GO:0005200)
Biological ProcessCell growth and/or maintenance (GO:0008151)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO