Property Summary

NCBI Gene PubMed Count 126
PubMed Score 48.34
PubTator Score 660.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
juvenile dermatomyositis 1189 2.6194666493201E-11
Duchenne muscular dystrophy 602 6.75994839812174E-11
chronic lymphosyte leukemia 232 9.496075187782E-9
ulcerative colitis 2087 5.22459741854724E-8
ovarian cancer 8492 3.31581296707566E-7
lung adenocarcinoma 2714 3.98217895878993E-6
acute quadriplegic myopathy 1157 3.43608450301357E-5
posterior fossa group A ependymoma 1511 3.84296056849222E-5
pancreatic carcinoma 567 1.64319832710578E-4
medulloblastoma, large-cell 6234 2.52258823341722E-4
COPD 116 3.11970633133676E-4
limb girdle muscular dystrophy 2A 156 3.33881423064557E-4
group 4 medulloblastoma 1875 9.53754483610281E-4
primary pancreatic ductal adenocarcinoma 1271 0.00145901692565885
pancreatic cancer 2300 0.00174400961068829
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00216049396393098
lung cancer 4473 0.00221101925090298
glioblastoma 5572 0.0100702873428179
colon cancer 1475 0.0117968529239773
dermatomyositis 967 0.0120545938230491
gastric carcinoma 832 0.015526706726505
oligodendroglioma 2849 0.0166727465614504
Becker muscular dystrophy 187 0.0182013028260629
Common variable immunodeficiency 98 0.0235959277959341
subependymal giant cell astrocytoma 2287 0.0322469031096181
astrocytic glioma 2241 0.048702052883048
Disease Target Count Z-score Confidence
thrombocytopenia-absent radius syndrome 15 3.582 1.8
Disease Target Count
Platelet-type bleeding disorder 15 1
Disease Target Count
Bleeding disorder, platelet-type 15 1

Expression

Synonym

Accession P12814 B3V8S3 B4DHH3 B7TY16 Q1HE25 Q9BTN1
Symbols BDPLT15

Gene

PDB

2EYI   2EYN   2N8Y   2N8Z  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

 CSPA Cell Line (3)

Gene RIF (48)

PMID Text
26879394 Several dominantly inherited congenital macrothrombocytopenia-associated mutations that are located within the actinin-1 actin-binding domain cause increased binding of actinin-1 to actin filaments and enhance filament bundling in vitro.
26854759 The authors show that the microtubule binding protein EB1 (end-binding protein 1), a key regulator of microtubule dynamics, can bind directly to filamentous actin (F-actin) F-actin.
26609810 Drp1 is in dynamic equilibrium on mitochondria in a fission-independent manner, and that fission factors such as actin filaments target productive oligomerization to fission sites.
26096820 Host cortactin, PKD1 and actin are recruited by Trypanosoma cruzi extracellular amastigotes based on experiments in fixed and live cells by time lapse confocal microscopy.
26071203 Data indicate that alpha-actinin (110 kDa) autoantibody was characterized as a major target in lupus nephritis (LN) patients positive for Anti-membrane autoantibodies (MbA).
25431851 ACTN1 determines the motility of keratinocytes by regulating the organization of the actin cytoskeleton, focal adhesion, and hemidesmosome proteins complexes, thereby modulating cell speed, lamellipodial dynamics, and directed migration
25429109 ArgBP2 interaction with alpha-actinin and actin stress fibers inhibits cell migration
25361813 ACTN1-related thrombocytopenia is characterized by mild course with platelet macrocytosis and low risk for bleeding.
24069336 A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
23664615 We conclude that alpha-actinin stabilizes Ca(V)1.2 at the plasma membrane and that its displacement by calcium-calmodulin triggers calcium-induced endocytosis of Ca(V)1.2, thus providing an important negative feedback mechanism for calcium influx.
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AA Sequence

MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLE      1 - 70
VISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDIS     71 - 140
VEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFD    141 - 210
VAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYE    211 - 280
KLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNR    281 - 350
PAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQK    351 - 420
DYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALT    421 - 490
QKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPD    491 - 560
ADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNER    561 - 630
LRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALI    631 - 700
FDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEE    701 - 770
FKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDK    771 - 840
NYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL                      841 - 892
//

Text Mined References (133)

PMID Year Title
26879394 2016 Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of ?-actinin-1 enhance F-actin association.
26854759 2016 Interactions between the Microtubule Binding Protein EB1 and F-Actin.
26609810 2015 Actin filaments target the oligomeric maturation of the dynamin GTPase Drp1 to mitochondrial fission sites.
26096820 2015 Trypanosoma cruzi extracellular amastigotes trigger the protein kinase D1-cortactin-actin pathway during cell invasion.
26071203 2015 Anti-alpha-actinin antibodies are part of the anti-cell membrane antibody spectrum that characterize patients with lupus nephritis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25431851 2015 Alpha actinin-1 regulates cell-matrix adhesion organization in keratinocytes: consequences for skin cell motility.
25429109 2015 Arg kinase-binding protein 2 (ArgBP2) interaction with ?-actinin and actin stress fibers inhibits cell migration.
25416956 2014 A proteome-scale map of the human interactome network.
25361813 2015 ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
More...