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Gene Symbol |
ACTG1 |
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Aliases |
ACT, ACTG, DFNA20, DFNA26, HEL-176 |
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Entrez Gene ID |
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Gene Name |
Actin gamma 1 |
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Chromosomal Location |
17q25.3 |
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HGNC ID |
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Summary |
Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
| Gene |
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| Transcript |
ENST00000573283, ENST00000575842, ENST00000575087, ENST00000576544, ENST00000644774, ENST00000572105, ENST00000571691, ENST00000575994, ENST00000575659, ENST00000571721, ENST00000570382, ENST00000615544 |
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| Protein |
ENSP00000458435, ENSP00000458162, ENSP00000459124, ENSP00000461672, ENSP00000493648, ENSP00000462823, ENSP00000461407, ENSP00000460464, ENSP00000459119, ENSP00000460660, ENSP00000466346, ENSP00000477968
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Gene Ontology (GO)
| GO ID |
Ontology |
Function |
Evidence |
Reference |
| GO:0001895 |
Biological process |
Retina homeostasis |
HEP |
23580065 |
| GO:0048488 |
Biological process |
Synaptic vesicle endocytosis |
IBA |
21873635 |
| GO:0070527 |
Biological process |
Platelet aggregation |
HMP |
23382103 |
| GO:0005615 |
Cellular component |
Extracellular space |
HDA |
16502470, 23580065 |
| GO:0005634 |
Cellular component |
Nucleus |
HDA |
21630459 |
| GO:0005856 |
Cellular component |
Cytoskeleton |
TAS |
16130169 |
| GO:0005884 |
Cellular component |
Actin filament |
IBA |
21873635 |
| GO:0005884 |
Cellular component |
Actin filament |
IDA |
28493397 |
| GO:0016020 |
Cellular component |
Membrane |
HDA |
19946888 |
| GO:0070062 |
Cellular component |
Extracellular exosome |
HDA |
20458337, 23533145 |
| GO:0070062 |
Cellular component |
Extracellular exosome |
IDA |
21557262 |
| GO:0072562 |
Cellular component |
Blood microparticle |
HDA |
22516433 |
| GO:0005200 |
Molecular function |
Structural constituent of cytoskeleton |
IC |
16130169 |
| GO:0005515 |
Molecular function |
Protein binding |
IPI |
16189514, 20706999, 21516116, 25241761, 25416956, 25910212, 28493397, 30561431 |
| GO:0005522 |
Molecular function |
Profilin binding |
IDA |
28493397 |
| GO:0031625 |
Molecular function |
Ubiquitin protein ligase binding |
IPI |
21753002 |
| GO:0042802 |
Molecular function |
Identical protein binding |
IPI |
16189514, 21516116, 25416956, 25910212 |
| GO:0098973 |
Molecular function |
Structural constituent of postsynaptic actin cytoskeleton |
IBA |
21873635 |
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| Protein Information |
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Protein Name |
Actin, cytoplasmic 2, cytoskeletal gamma-actin, epididymis luminal protein 176 |
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Function |
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Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. |
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UniProt |
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PDB |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00022 |
Actin |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000332256 |
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P47895 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Acute Coronary Syndrome |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Drachtman Weinblatt Sitarz syndrome |
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| Anencephaly |
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| Congenital ocular coloboma |
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| Baraitser-Winter Syndrome |
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| Ear Or Mastoid Diseases |
| Hearing Loss |
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| Endocrine System Diseases |
| PCOS |
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| Musculoskeletal Diseases |
| Osteoporosis |
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| Neoplasms |
| Carcinoma |
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| Anaplastic Carcinoma |
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References |
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| Gupta Sajal, Ghulmiyyah Jana, Sharma Rakesh, Halabi Jacques, Agarwal Ashok |
| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA. |
| Biomed Res Int. 2014;2014:916212. doi: 10.1155/2014/916212. Epub 2014 May 12. |
Abstract
Endometriosis, PCOS, and unexplained infertility are currently the most common diseases rendering large numbers of women infertile worldwide. Oxidative stress, due to its deleterious effects on proteins and nucleic acids, is postulated to be the one of the important mechanistic pathways in differential expression of proteins and in these diseases. The emerging field of proteomics has allowed identification of proteins involved in cell cycle, as antioxidants, extracellular matrix (ECM), cytoskeleton, and their linkage to oxidative stress in female infertility related diseases. The aim of this paper is to assess the association of oxidative stress and protein expression in the reproductive microenvironments such as endometrial fluid, peritoneal fluid, and follicular fluid, as well as reproductive tissues and serum. The review also highlights the literature that proposes the use of the fertility related proteins as potential biomarkers for noninvasive and early diagnosis of the aforementioned diseases rather than utilizing the more invasive methods used currently. The review will highlight the power of proteomic profiles identified in infertility related disease conditions and their linkage with underlying oxidative stress. The power of proteomics will be reviewed with regard to eliciting molecular mechanisms for early detection and management of these infertility related conditions. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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