Homo sapiens (Human) Transmembrane protein 53, FLJ22353, NET4
Protein of unknown function DUF829. Contains exclusively eukaryote proteins including transmembrane protein 53. Said to be integral membrane proteins (!?) Dictyostelium discoideum Net4 (dicdi-q54yr8<\/A>), which has strong homologies to mammalian DUF829\/Tmem53\/NET4 is found on lipid droplets (Du et al.<\/A>). Seems to have a conserved catalytic triad Ser-113, Asp-220, and His-252 in TMEM53_HUMAN. Korfali et al. (2011)<\/A> identified NET4 as a gene that influenced cell cycle regulation. The cell cycle effects of NET4 were dependent on p53 and RB. Knockdown of NET4 caused premature senescence due to permanent arrest of the cell cycle in MRC5 human fibroblasts, whereas it only caused a cell cycle delay at G1 phase in U2OS cells. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling (Guo et al. 2021<\/A>). Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life. In 4 Indian families with craniotubular dysplasia, Guo et al. (2021) identified homozygous mutations in the TMEM53 gene: a 4-bp insertion in an affected brother and sister in family A, and a 3-bp deletionin 4 affected individuals from families B, C, and D. TMEM53 is a novel SADS-CoV restriction factor that targets viral RNA-dependent RNA polymerase Yao et al. (2023)<\/A>
Family : Duf_829
Block : X
Position in NCBI Life Tree : Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N EMASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN LAKYSAIYHK RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY EIEKEPLLFH VFSNGGVMLY RYVLELLQTR RFCRLRVVGT IFDSAPGDSN LVGALRALAA ILERRAAMLR LLLLVAFALV VVLFHVLLAP ITALFHTHFY DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV LARSVDFVSS AHVSHLRDYP TYYTSLCVDF MRNCVRC
Title : Identification of TMEM53 as a novel SADS-CoV restriction factor that targets viral RNA-dependent RNA polymerase - Yao_2023_Emerg.Microbes.Infect_12_2249120 |
Author(s) : Yao YL , Luo Y , Wang Q , Geng R , Chen Y , Liu MQ , Li B , Chen J , Wu CG , Jia JK , Luo JY , He YT , Jiang TT , Zhu Y , Hu B , Zhou P , Shi ZL |
Ref : Emerg Microbes Infect , 12 :2249120 , 2023 |
Abstract : |
PubMedSearch : Yao_2023_Emerg.Microbes.Infect_12_2249120 |
PubMedID: 37584551 |
Gene_locus related to this paper: human-TMEM53 |
Title : Gene co-expression in response to Staphylococcus aureus infection reveals networks of genes with specific functions during bovine subclinical mastitis - Wang_2023_J.Dairy.Sci_106_5517 |
Author(s) : Wang M , Bissonnette N , Laterriere M , Dudemaine PL , Gagne D , Roy JP , Sirard MA , Ibeagha-Awemu EM |
Ref : J Dairy Sci , 106 :5517 , 2023 |
Abstract : |
PubMedSearch : Wang_2023_J.Dairy.Sci_106_5517 |
PubMedID: 37291036 |
Gene_locus related to this paper: human-TMEM53 |
Title : WGCNA combined with machine learning algorithms for analyzing key genes and immune cell infiltration in heart failure due to ischemic cardiomyopathy - Kong_2023_Front.Cardiovasc.Med_10_1058834 |
Author(s) : Kong X , Sun H , Wei K , Meng L , Lv X , Liu C , Lin F , Gu X |
Ref : Front Cardiovasc Med , 10 :1058834 , 2023 |
Abstract : |
PubMedSearch : Kong_2023_Front.Cardiovasc.Med_10_1058834 |
PubMedID: 37008314 |
Gene_locus related to this paper: human-TMEM53 |
Title : Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling - Guo_2021_Nat.Commun_12_2046 |
Author(s) : Guo L , Iida A , Bhavani GS , Gowrishankar K , Wang Z , Xue JY , Wang J , Miyake N , Matsumoto N , Hasegawa T , Iizuka Y , Matsuda M , Nakashima T , Takechi M , Iseki S , Yambe S , Nishimura G , Koseki H , Shukunami C , Girisha KM , Ikegawa S |
Ref : Nat Commun , 12 :2046 , 2021 |
Abstract : |
PubMedSearch : Guo_2021_Nat.Commun_12_2046 |
PubMedID: 33824347 |
Gene_locus related to this paper: human-TMEM53 |
Title : Functionathon: a manual data mining workflow to generate functional hypotheses for uncharacterized human proteins and its application by undergraduate students - Duek_2021_Database.(Oxford)_2021_baab04 |
Author(s) : Duek P , Mary C , Zahn-Zabal M , Bairoch A , Lane L |
Ref : Database (Oxford) , 2021 : , 2021 |
Abstract : |
PubMedSearch : Duek_2021_Database.(Oxford)_2021_baab04 |
PubMedID: 34318869 |
Gene_locus related to this paper: human-TMEM53 |
Title : Dictyostelium lipid droplets host novel proteins - Du_2013_Eukaryot.Cell_12_1517 |
Author(s) : Du X , Barisch C , Paschke P , Herrfurth C , Bertinetti O , Pawolleck N , Otto H , Ruhling H , Feussner I , Herberg FW , Maniak M |
Ref : Eukaryot Cell , 12 :1517 , 2013 |
Abstract : |
PubMedSearch : Du_2013_Eukaryot.Cell_12_1517 |
PubMedID: 24036346 |
Gene_locus related to this paper: dicdi-q54yr8 , human-TMEM53 |
Title : A flow cytometry-based screen of nuclear envelope transmembrane proteins identifies NET4\/Tmem53 as involved in stress-dependent cell cycle withdrawal - Korfali_2011_PLoS.One_6_e18762 |
Author(s) : Korfali N , Srsen V , Waterfall M , Batrakou DG , Pekovic V , Hutchison CJ , Schirmer EC |
Ref : PLoS ONE , 6 :e18762 , 2011 |
Abstract : |
PubMedSearch : Korfali_2011_PLoS.One_6_e18762 |
PubMedID: 21533191 |
Gene_locus related to this paper: human-TMEM53 |