ACTN1 | ENSG00000072110 | NCBI 87

Details for: ACTN1

Gene ID: 87

Symbol: ACTN1

Ensembl ID: ENSG00000072110

Description: actinin alpha 1

Associated with

Cell-cell communication
(R-HSA-1500931)
Cell-extracellular matrix interactions
(R-HSA-446353)
Cell junction organization
(R-HSA-446728)
Extracellular matrix organization
(R-HSA-1474244)
Hemostasis
(R-HSA-109582)
Nephrin family interactions
(R-HSA-373753)
Non-integrin membrane-ecm interactions
(R-HSA-3000171)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Platelet degranulation
(R-HSA-114608)
Regulation of cytoskeletal remodeling and cell spreading by ipp complex components
(R-HSA-446388)
Response to elevated platelet cytosolic ca2+
(R-HSA-76005)
Rhobtb2 gtpase cycle
(R-HSA-9013418)
Rhobtb gtpase cycle
(R-HSA-9706574)
Rhod gtpase cycle
(R-HSA-9013405)
Rhof gtpase cycle
(R-HSA-9035034)
Rho gtpase cycle
(R-HSA-9012999)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signal transduction
(R-HSA-162582)
Syndecan interactions
(R-HSA-3000170)
Actin cytoskeleton organization
(GO:0030036)
Actin filament
(GO:0005884)
Actin filament binding
(GO:0051015)
Actin filament bundle assembly
(GO:0051017)
Actin filament network formation
(GO:0051639)
Actin filament organization
(GO:0007015)
Brush border
(GO:0005903)
Calcium ion binding
(GO:0005509)
Cell-cell junction
(GO:0005911)
Cell junction
(GO:0030054)
Cell projection
(GO:0042995)
Cortical actin cytoskeleton
(GO:0030864)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Double-stranded rna binding
(GO:0003725)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Fascia adherens
(GO:0005916)
Focal adhesion
(GO:0005925)
Focal adhesion assembly
(GO:0048041)
Glutamatergic synapse
(GO:0098978)
Integrin binding
(GO:0005178)
Muscle cell development
(GO:0055001)
Nuclear receptor coactivator activity
(GO:0030374)
Plasma membrane
(GO:0005886)
Platelet activation
(GO:0030168)
Platelet aggregation
(GO:0070527)
Platelet alpha granule lumen
(GO:0031093)
Platelet formation
(GO:0030220)
Platelet morphogenesis
(GO:0036344)
Positive regulation of dna-templated transcription
(GO:0045893)
Postsynapse organization
(GO:0099173)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Pseudopodium
(GO:0031143)
Regulation of apoptotic process
(GO:0042981)
Ruffle
(GO:0001726)
Stress fiber
(GO:0001725)
Structural constituent of postsynapse
(GO:0099186)
Transmembrane transporter binding
(GO:0044325)
Vinculin binding
(GO:0017166)
Z disc
(GO:0030018)

Other Information

Proteins

Alpha-actinin-1

Genular Protein ID: 1668419499

Symbol: ACTN1_HUMAN

Name: Alpha-actinin-1

UniProtKB Accession Codes:

P12814 B3V8S3 B4DHH3 B7TY16 Q1HE25 Q9BTN1

Database IDs:

Citations:

PubMed ID: 2780298

Title: The cDNA sequence of a human placental alpha-actinin.

PubMed ID: 2780298

DOI: 10.1093/nar/17.16.6725

PubMed ID: 2349951

Title: Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene.

PubMed ID: 2349951

PubMed ID: 18353764

Title: Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis.

PubMed ID: 18353764

DOI: 10.1074/mcp.m700590-mcp200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2169343

Title: Expression of human alpha-actinin in human hepatocellular carcinoma.

PubMed ID: 2169343

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 8713105

Title: Identification of the 70kD heat shock cognate protein (Hsc70) and alpha-actinin-1 as novel phosphotyrosine-containing proteins in T lymphocytes.

PubMed ID: 8713105

DOI: 10.1006/bbrc.1996.1082

PubMed ID: 7750553

Title: Identification of the cytoskeletal protein alpha-actinin as a platelet thrombospondin-binding protein.

PubMed ID: 7750553

DOI: 10.1016/0014-5793(95)00362-d

PubMed ID: 10369880

Title: Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.

PubMed ID: 10369880

DOI: 10.1093/hmg/8.7.1329

PubMed ID: 11114196

Title: Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.

PubMed ID: 11114196

DOI: 10.1073/pnas.260501097

PubMed ID: 11369769

Title: The cytoskeletal/non-muscle isoform of alpha-actinin is phosphorylated on its actin-binding domain by the focal adhesion kinase.

PubMed ID: 11369769

DOI: 10.1074/jbc.m101678200

PubMed ID: 12615977

Title: The lipoma preferred partner LPP interacts with alpha-actinin.

PubMed ID: 12615977

DOI: 10.1242/jcs.00309

PubMed ID: 16464232

Title: Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring.

PubMed ID: 16464232

DOI: 10.1111/j.1471-4159.2006.03679.x

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 16698282

Title: Crystal structure of the actin-binding domain of alpha-actinin 1: evaluating two competing actin-binding models.

PubMed ID: 16698282

DOI: 10.1016/j.jsb.2006.01.013

PubMed ID: 23434115

Title: ACTN1 mutations cause congenital macrothrombocytopenia.

PubMed ID: 23434115

DOI: 10.1016/j.ajhg.2013.01.015

PubMed ID: 24069336

Title: A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.

PubMed ID: 24069336

DOI: 10.1371/journal.pone.0074728

Sequence Information:

Length: 892
Mass: 103058
Checksum: 6DA3E4D1A0289519
Sequence:

MDHYDSQQTN DYMQPEEDWD RDLLLDPAWE KQQRKTFTAW CNSHLRKAGT QIENIEEDFR 
DGLKLMLLLE VISGERLAKP ERGKMRVHKI SNVNKALDFI ASKGVKLVSI GAEEIVDGNV 
KMTLGMIWTI ILRFAIQDIS VEETSAKEGL LLWCQRKTAP YKNVNIQNFH ISWKDGLGFC 
ALIHRHRPEL IDYGKLRKDD PLTNLNTAFD VAEKYLDIPK MLDAEDIVGT ARPDEKAIMT 
YVSSFYHAFS GAQKAETAAN RICKVLAVNQ ENEQLMEDYE KLASDLLEWI RRTIPWLENR 
VPENTMHAMQ QKLEDFRDYR RLHKPPKVQE KCQLEINFNT LQTKLRLSNR PAFMPSEGRM 
VSDINNAWGC LEQVEKGYEE WLLNEIRRLE RLDHLAEKFR QKASIHEAWT DGKEAMLRQK 
DYETATLSEI KALLKKHEAF ESDLAAHQDR VEQIAAIAQE LNELDYYDSP SVNARCQKIC 
DQWDNLGALT QKRREALERT EKLLETIDQL YLEYAKRAAP FNNWMEGAME DLQDTFIVHT 
IEEIQGLTTA HEQFKATLPD ADKERLAILG IHNEVSKIVQ TYHVNMAGTN PYTTITPQEI 
NGKWDHVRQL VPRRDQALTE EHARQQHNER LRKQFGAQAN VIGPWIQTKM EEIGRISIEM 
HGTLEDQLSH LRQYEKSIVN YKPKIDQLEG DHQLIQEALI FDNKHTNYTM EHIRVGWEQL 
LTTIARTINE VENQILTRDA KGISQEQMNE FRASFNHFDR DHSGTLGPEE FKACLISLGY 
DIGNDPQGEA EFARIMSIVD PNRLGVVTFQ AFIDFMSRET ADTDTADQVM ASFKILAGDK 
NYITMDELRR ELPPDQAEYC IARMAPYTGP DSVPGALDYM SFSTALYGES DL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACTN1

Associated with

Other Information

The cDNA sequence of a human placental alpha-actinin. PubMed ID: 2780298

Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. PubMed ID: 2349951

Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. PubMed ID: 18353764

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and analysis of human chromosome 14. PubMed ID: 12508121

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Expression of human alpha-actinin in human hepatocellular carcinoma. PubMed ID: 2169343

Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. PubMed ID: 12665801

Identification of the 70kD heat shock cognate protein (Hsc70) and alpha-actinin-1 as novel phosphotyrosine-containing proteins in T lymphocytes. PubMed ID: 8713105

Identification of the cytoskeletal protein alpha-actinin as a platelet thrombospondin-binding protein. PubMed ID: 7750553

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. PubMed ID: 10369880

Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. PubMed ID: 11114196

The cytoskeletal/non-muscle isoform of alpha-actinin is phosphorylated on its actin-binding domain by the focal adhesion kinase. PubMed ID: 11369769

The lipoma preferred partner LPP interacts with alpha-actinin. PubMed ID: 12615977

Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring. PubMed ID: 16464232

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Initial characterization of the human central proteome. PubMed ID: 21269460

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. PubMed ID: 21406692

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Crystal structure of the actin-binding domain of alpha-actinin 1: evaluating two competing actin-binding models. PubMed ID: 16698282

ACTN1 mutations cause congenital macrothrombocytopenia. PubMed ID: 23434115

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. PubMed ID: 24069336