ACTG1 | ENSG00000184009 | NCBI 71

Details for: ACTG1

Gene ID: 71

Symbol: ACTG1

Ensembl ID: ENSG00000184009

Description: actin gamma 1

Associated with

Adherens junctions interactions
(R-HSA-418990)
Axon guidance
(R-HSA-422475)
Cell-cell communication
(R-HSA-1500931)
Cell-cell junction organization
(R-HSA-421270)
Cell-extracellular matrix interactions
(R-HSA-446353)
Cell junction organization
(R-HSA-446728)
Clathrin-mediated endocytosis
(R-HSA-8856828)
Developmental biology
(R-HSA-1266738)
Disease
(R-HSA-1643685)
Diseases of signal transduction by growth factor receptors and second messengers
(R-HSA-5663202)
Eph-ephrin mediated repulsion of cells
(R-HSA-3928665)
Eph-ephrin signaling
(R-HSA-2682334)
Ephb-mediated forward signaling
(R-HSA-3928662)
Fcgamma receptor (fcgr) dependent phagocytosis
(R-HSA-2029480)
Fcgr3a-mediated phagocytosis
(R-HSA-9664422)
Formation of annular gap junctions
(R-HSA-196025)
Gap junction degradation
(R-HSA-190873)
Gap junction trafficking
(R-HSA-190828)
Gap junction trafficking and regulation
(R-HSA-157858)
Immune system
(R-HSA-168256)
Infectious disease
(R-HSA-5663205)
Innate immune system
(R-HSA-168249)
Interaction between l1 and ankyrins
(R-HSA-445095)
L1cam interactions
(R-HSA-373760)
Leishmania infection
(R-HSA-9658195)
Leishmania phagocytosis
(R-HSA-9664417)
Map2k and mapk activation
(R-HSA-5674135)
Mapk1/mapk3 signaling
(R-HSA-5684996)
Mapk family signaling cascades
(R-HSA-5683057)
Membrane trafficking
(R-HSA-199991)
Nervous system development
(R-HSA-9675108)
Oncogenic mapk signaling
(R-HSA-6802957)
Paradoxical activation of raf signaling by kinase inactive braf
(R-HSA-6802955)
Parasite infection
(R-HSA-9664407)
Parasitic infection pathways
(R-HSA-9824443)
Raf/map kinase cascade
(R-HSA-5673001)
Recycling pathway of l1
(R-HSA-437239)
Regulation of actin dynamics for phagocytic cup formation
(R-HSA-2029482)
Rhobtb2 gtpase cycle
(R-HSA-9013418)
Rhobtb gtpase cycle
(R-HSA-9706574)
Rho gtpase cycle
(R-HSA-9012999)
Rho gtpase effectors
(R-HSA-195258)
Rho gtpases activate formins
(R-HSA-5663220)
Rho gtpases activate iqgaps
(R-HSA-5626467)
Rho gtpases activate wasps and waves
(R-HSA-5663213)
Sensory perception
(R-HSA-9709957)
Sensory processing of sound
(R-HSA-9659379)
Sensory processing of sound by inner hair cells of the cochlea
(R-HSA-9662360)
Sensory processing of sound by outer hair cells of the cochlea
(R-HSA-9662361)
Signaling by braf and raf1 fusions
(R-HSA-6802952)
Signaling by high-kinase activity braf mutants
(R-HSA-6802948)
Signaling by moderate kinase activity braf mutants
(R-HSA-6802946)
Signaling by raf1 mutants
(R-HSA-9656223)
Signaling by ras mutants
(R-HSA-6802949)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signaling by vegf
(R-HSA-194138)
Signaling downstream of ras mutants
(R-HSA-9649948)
Signal transduction
(R-HSA-162582)
Translocation of slc2a4 (glut4) to the plasma membrane
(R-HSA-1445148)
Vegfa-vegfr2 pathway
(R-HSA-4420097)
Vesicle-mediated transport
(R-HSA-5653656)
Actin filament
(GO:0005884)
Angiogenesis
(GO:0001525)
Atp binding
(GO:0005524)
Axonogenesis
(GO:0007409)
Cell-cell junction
(GO:0005911)
Cell motility
(GO:0048870)
Cellular response to type ii interferon
(GO:0071346)
Cytoplasm
(GO:0005737)
Cytoskeleton
(GO:0005856)
Cytosol
(GO:0005829)
Extracellular space
(GO:0005615)
Hydrolase activity
(GO:0016787)
Identical protein binding
(GO:0042802)
Maintenance of blood-brain barrier
(GO:0035633)
Morphogenesis of a polarized epithelium
(GO:0001738)
Nucleus
(GO:0005634)
Plasma membrane
(GO:0005886)
Platelet aggregation
(GO:0070527)
Positive regulation of cell migration
(GO:0030335)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of wound healing
(GO:0090303)
Postsynaptic actin cytoskeleton organization
(GO:0098974)
Profilin binding
(GO:0005522)
Protein binding
(GO:0005515)
Protein kinase binding
(GO:0019901)
Protein localization to bicellular tight junction
(GO:1902396)
Regulation of focal adhesion assembly
(GO:0051893)
Regulation of stress fiber assembly
(GO:0051492)
Regulation of synaptic vesicle endocytosis
(GO:1900242)
Regulation of transepithelial transport
(GO:0150111)
Sarcomere organization
(GO:0045214)
Structural constituent of cytoskeleton
(GO:0005200)
Structural constituent of postsynaptic actin cytoskeleton
(GO:0098973)
Tight junction assembly
(GO:0120192)
Ubiquitin protein ligase binding
(GO:0031625)

Other Information

Proteins

Actin, cytoplasmic 2

Genular Protein ID: 1163596488

Symbol: ACTG_HUMAN

Name: Actin, cytoplasmic 2

UniProtKB Accession Codes:

P63261 A8K7C2 P02571 P14104 P99022 Q5U032 Q96E67

Database IDs:

Citations:

PubMed ID: 3737401

Title: Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes.

PubMed ID: 3737401

DOI: 10.1093/nar/14.13.5275

PubMed ID: 2837653

Title: Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes.

PubMed ID: 2837653

DOI: 10.1128/mcb.8.4.1775-1789.1988

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 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: 3472224

Title: Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and amino acid substitutions that may be cancer related.

PubMed ID: 3472224

DOI: 10.1073/pnas.84.9.2575

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 19015515

Title: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.

PubMed ID: 19015515

DOI: 10.1073/pnas.0808082105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23673617

Title: ALKBH4-dependent demethylation of actin regulates actomyosin dynamics.

PubMed ID: 23673617

DOI: 10.1038/ncomms2863

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26228148

Title: ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.

PubMed ID: 26228148

DOI: 10.1126/science.aab4090

PubMed ID: 30028079

Title: NAT6 acetylates the N-terminus of different forms of actin.

PubMed ID: 30028079

DOI: 10.1111/febs.14605

PubMed ID: 29581253

Title: NAA80 is actin's N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility.

PubMed ID: 29581253

DOI: 10.1073/pnas.1718336115

PubMed ID: 30626964

Title: SETD3 is an actin histidine methyltransferase that prevents primary dystocia.

PubMed ID: 30626964

DOI: 10.1038/s41586-018-0821-8

PubMed ID: 36173861

Title: Actin maturation requires the ACTMAP/C19orf54 protease.

PubMed ID: 36173861

DOI: 10.1126/science.abq5082

PubMed ID: 13680526

Title: Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PubMed ID: 13680526

DOI: 10.1086/379286

PubMed ID: 14684684

Title: A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

PubMed ID: 14684684

DOI: 10.1136/jmg.40.12.879

PubMed ID: 16773128

Title: A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

PubMed ID: 16773128

DOI: 10.1038/sj.ejhg.5201670

PubMed ID: 18804074

Title: Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

PubMed ID: 18804074

DOI: 10.1016/s1673-8527(08)60075-2

PubMed ID: 19477959

Title: In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

PubMed ID: 19477959

DOI: 10.1093/hmg/ddp249

PubMed ID: 22366783

Title: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PubMed ID: 22366783

DOI: 10.1038/ng.1091

PubMed ID: 22938506

Title: Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

PubMed ID: 22938506

DOI: 10.1186/1750-1172-7-60

PubMed ID: 25388789

Title: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PubMed ID: 25388789

DOI: 10.1186/s12967-014-0311-1

PubMed ID: 28493397

Title: A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PubMed ID: 28493397

DOI: 10.1002/humu.23246

Sequence Information:

Length: 375
Mass: 41793
Checksum: 54D08F986964EFD5
Sequence:

MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS 
KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT 
QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL 
AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY 
ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS 
GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ 
EYDESGPSIV HRKCF

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: ACTG1

Associated with

Other Information

Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes. PubMed ID: 3737401

Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. PubMed ID: 2837653

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

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

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

Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and amino acid substitutions that may be cancer related. PubMed ID: 3472224

Proteomic characterization of the human centrosome by protein correlation profiling. PubMed ID: 14654843

Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin. PubMed ID: 19015515

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features. PubMed ID: 22223895

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

ALKBH4-dependent demethylation of actin regulates actomyosin dynamics. PubMed ID: 23673617

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

ACD toxin-produced actin oligomers poison formin-controlled actin polymerization. PubMed ID: 26228148

NAT6 acetylates the N-terminus of different forms of actin. PubMed ID: 30028079

NAA80 is actin's N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility. PubMed ID: 29581253

SETD3 is an actin histidine methyltransferase that prevents primary dystocia. PubMed ID: 30626964

Actin maturation requires the ACTMAP/C19orf54 protease. PubMed ID: 36173861

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). PubMed ID: 13680526

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). PubMed ID: 14684684

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. PubMed ID: 16773128

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. PubMed ID: 18804074

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. PubMed ID: 19477959

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. PubMed ID: 22366783

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. PubMed ID: 22938506

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. PubMed ID: 25388789

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. PubMed ID: 28493397