Details for: ACTN1

Gene ID: 87

Symbol: ACTN1

Ensembl ID: ENSG00000072110

Description: actinin alpha 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 3.28
    Marker Score: 4267
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 3.23
    Marker Score: 15849
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.06
    Marker Score: 6707
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 2.73
    Marker Score: 1033
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2.72
    Marker Score: 1536
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.7
    Marker Score: 853
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.68
    Marker Score: 2555
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.62
    Marker Score: 6155
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 2.53
    Marker Score: 3473
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.28
    Marker Score: 8793.5
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 2.25
    Marker Score: 13651
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.23
    Marker Score: 1210
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.23
    Marker Score: 3955
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.23
    Marker Score: 4282
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 2.18
    Marker Score: 2696
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.17
    Marker Score: 1431
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.16
    Marker Score: 4917
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.13
    Marker Score: 1247
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.09
    Marker Score: 9025
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.08
    Marker Score: 3917
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.07
    Marker Score: 3007
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 2.02
    Marker Score: 571
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.98
    Marker Score: 505
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.96
    Marker Score: 4777
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.95
    Marker Score: 1163
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.92
    Marker Score: 117847.5
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.91
    Marker Score: 1090
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.89
    Marker Score: 24987
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.89
    Marker Score: 671
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.88
    Marker Score: 455
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.86
    Marker Score: 545
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.83
    Marker Score: 1303
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.81
    Marker Score: 17177
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.8
    Marker Score: 510
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.8
    Marker Score: 15429
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.79
    Marker Score: 6931
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.79
    Marker Score: 13742
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.79
    Marker Score: 7021
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.78
    Marker Score: 7462
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.76
    Marker Score: 1503
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.75
    Marker Score: 2963.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.75
    Marker Score: 19664
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 1.74
    Marker Score: 391
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.73
    Marker Score: 720
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.72
    Marker Score: 44124
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.71
    Marker Score: 1549
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.68
    Marker Score: 615
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.68
    Marker Score: 63806
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.66
    Marker Score: 24751
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.64
    Marker Score: 955
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.64
    Marker Score: 764
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.61
    Marker Score: 387
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.6
    Marker Score: 6652
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.58
    Marker Score: 878
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.57
    Marker Score: 2639
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.57
    Marker Score: 3136
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 1.57
    Marker Score: 333
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.56
    Marker Score: 912
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.56
    Marker Score: 651
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.56
    Marker Score: 2402
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.55
    Marker Score: 754
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.53
    Marker Score: 3814
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.52
    Marker Score: 51628.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.52
    Marker Score: 1746
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.51
    Marker Score: 84341
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.5
    Marker Score: 749
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.48
    Marker Score: 771
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.48
    Marker Score: 5245
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.46
    Marker Score: 920
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 1.45
    Marker Score: 906
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.45
    Marker Score: 1753
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166277
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.45
    Marker Score: 360
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.43
    Marker Score: 360
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 1.42
    Marker Score: 1368
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.4
    Marker Score: 1964
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.39
    Marker Score: 3650
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.39
    Marker Score: 1748
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.38
    Marker Score: 12953
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.38
    Marker Score: 1233
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.37
    Marker Score: 3917
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 1.37
    Marker Score: 591
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.36
    Marker Score: 1415
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.35
    Marker Score: 1200
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.35
    Marker Score: 427
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 1.35
    Marker Score: 821
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.33
    Marker Score: 1330.5
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.33
    Marker Score: 1606
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.32
    Marker Score: 1948
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.32
    Marker Score: 456
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.32
    Marker Score: 459
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.31
    Marker Score: 507
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.29
    Marker Score: 20237.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.29
    Marker Score: 376
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.29
    Marker Score: 3030
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.28
    Marker Score: 13223.5
  • Cell Name: platelet (CL0000233)
    Fold Change: 1.28
    Marker Score: 579
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.28
    Marker Score: 743
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.28
    Marker Score: 1065
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.26
    Marker Score: 860

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Other Information

## Summary The ACTN1 gene encodes for actinin alpha 1, a cytoskeletal protein that plays a crucial role in cell-cell communication, cell adhesion, and tissue organization. It is highly expressed in various cell types, including smooth muscle cells, epithelial cells, and pericytes. ## Key characteristics * **Gene name:** ACTN1 * **Ensembl ID:** ENSG00000072110 * **Protein name:** Alpha-actinin-1 * **Molecular weight:** 425 kDa * **Expression:** Highly expressed in uterine smooth muscle cell, myoepithelial cell of mammary gland, ciliary muscle cell, smooth muscle cell of large intestine, endocardial cell, smooth muscle cell of sphincter of pupil, renal interstitial pericyte, enteric smooth muscle cell, bronchus fibroblast of lung, progenitor cell of mammary luminal epithelium ## Pathways and functions * **Cell-cell communication:** ACTN1 is a key component of the ipp complex, a cell adhesion molecule complex that facilitates cell-cell adhesion and signaling. * **Cell-extracellular matrix interactions:** ACTN1 is also involved in cell-extracellular matrix interactions, helping to organize the extracellular matrix and facilitate cell migration and adhesion. * **Cell junction organization:** It plays a role in the organization of cell junctions, ensuring the proper assembly and function of tissues. * **Extracellular matrix organization:** ACTN1 is a key component of the extracellular matrix, where it helps to maintain tissue integrity and cell adhesion. * **Hemostasis:** It is involved in blood clotting and hemostasis, where it helps to form blood clots and stop bleeding. * **Rhobtb2 gtpase cycle:** ACTN1 is a substrate for Rhobtb2 gtpase, an enzyme that is involved in the regulation of cell migration and cell adhesion. * **Platelet activation:** ACTN1 is a key component of the platelet activation cascade, where it interacts with other proteins to facilitate platelet aggregation and clot formation. ## Clinical significance Mutations in the ACTN1 gene have been linked to various human diseases, including cardiovascular disease, cancer, and developmental disorders. These mutations can lead to defects in cell adhesion, migration, and signaling, resulting in tissue abnormalities and disease manifestations. Therefore, ACTN1 is an important target for drug development in various medical conditions characterized by impaired cell-cell communication, cell migration, or tissue organization.

Genular Protein ID: 1668419499

Symbol: ACTN1_HUMAN

Name: Alpha-actinin-1

UniProtKB Accession Codes:

P12814 B3V8S3 B4DHH3 B7TY16 Q1HE25 Q9BTN1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 4 CORUM 1 CTD 1 CarbonylDB 1 ChEBI 5 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 12 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 4 PIR 1 PRIDE 1 PRO 1 PROSITE 5 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 7 RefSeq 3 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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. For the full schema, download it here.