Homo sapiens Protein: ACTG1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-759727.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | ACTG1 | ||||||||||||||||||
Protein Name | |||||||||||||||||||
Synonyms | ACT; ACTG; BRWS1; BRWS2; DFNA20; DFNA26; HEL-176; PS1TP5BP1; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000461672 | ||||||||||||||||||
InnateDB Gene | IDBG-72264 (ACTG1) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. | ||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton. | ||||||||||||||||||
Disease Associations | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:13680526, ECO:0000269PubMed:14684684, ECO:0000269PubMed:16773128, ECO:0000269PubMed:18804074, ECO:0000269PubMed:19477959}. Note=The disease is caused by mutations affecting the gene represented in this entry.Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 122 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR004000
Actin-related protein |
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PFAM |
PF00022
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PRINTS |
PR00190
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PIRSF | |||||||||||||||||||
SMART |
SM00268
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P63261 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P63261 | ||||||||||||||||||
TrEMBL | Q9UE89 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 71 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | XP_006715827 | ||||||||||||||||||
HUGO | HGNC:144 | ||||||||||||||||||
OMIM | 102630 | ||||||||||||||||||
CCDS | CCDS11782 | ||||||||||||||||||
HPRD | 00017 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC139149 AK125561 AK291937 AK304637 AY970363 AY970364 AY970366 AY970368 AY970369 AY970370 AY970371 AY970372 AY970375 AY970377 AY970380 AY970381 AY970382 AY970402 AY970403 AY970404 AY970405 AY970406 AY970408 AY970409 AY970410 AY970411 AY970412 AY970413 AY970414 AY970415 AY970416 AY970417 AY970418 AY970419 AY970441 AY970443 AY970468 AY970469 AY970470 AY970471 AY970472 AY970473 AY970474 AY970476 AY970478 AY970486 AY970487 AY970488 AY970489 AY970491 AY970493 AY970494 AY970495 AY970497 AY970498 AY970501 BC000292 BC001920 BC007442 BC009544 BC009848 BC010417 BC010999 BC012050 BC015005 BC015695 BC015779 BC018774 BC023548 BC053572 BT019856 DQ407611 EF036500 EF095209 M16247 M19283 M28424 X04098 | ||||||||||||||||||
GenPept | AAA51579 AAA51580 AAB16906 AAH00292 AAH01920 AAH07442 AAH09544 AAH09848 AAH10417 AAH10999 AAH12050 AAH15005 AAH15695 AAH15779 AAH18774 AAH23548 AAH53572 AAV38659 AAX82173 AAX82174 AAX82176 AAX82178 AAX82179 AAX82180 AAX82181 AAX82182 AAX82184 AAX82186 AAX82189 AAX82190 AAX82191 AAX82211 AAX82212 AAX82213 AAX82214 AAX82215 AAX82217 AAX82218 AAX82219 AAX82220 AAX82221 AAX82222 AAX82223 AAX82224 AAX82225 AAX82226 AAX82227 AAX82228 AAX82250 AAX82252 AAX82274 AAX82275 AAX82276 AAX82277 AAX82278 AAX82279 AAX82280 AAX82282 AAX82284 AAX82292 AAX82293 AAX82294 AAX82295 AAX82297 AAX82299 AAX82300 AAX82301 AAX82303 AAX82304 AAX82307 ABD66582 ABL01513 ABO65086 BAF84626 BAG54215 BAG65416 CAA27723 | ||||||||||||||||||