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onsdag 6 mars 2019

Semaforiini-3C, SEMA3C (7q21.11)


Muita nimiä:SemE, SEMAE. Luokka III semaforiini. Geenimutaatio assosioituu Hirschprungin tautiin. 
 
https://www.ncbi.nlm.nih.gov/gene/10512
Also known as SemE; SEMAE
Summary. This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]
Expression. Broad expression in prostate (RPKM 41.1), urinary bladder (RPKM 40.3) and 20 other tissues See more
Preferred Names
semaphorin-3C
Names
sema E
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
semaphorin E
 Semaphorin -3C isoform 1:
 https://www.ncbi.nlm.nih.gov/protein/NP_001337049.1
(Tässä isoformisekvensissä on hauskasti xix sarjoja. Näissä kaikissa semaforeeneissa ja pleksiineissä  tapaa olla jokin erikoinen oma distinkti  "sekvenssileimansa" niiden aminohappokoodissa.  Tässä leimaa  tuo "xix", vaikka tässä on paljon muutakin distinktiä.  Kirjoitan nuo xix- jaksot tähän  että lukija pääsee perille  näiden  sekvenssien  elävyydestå ja persoonallisesta leimasta.  Niitten avulla voi nimittäin  muistaa eri  proteiinit  ehkä paremmin.
gif, wil, cis, tic, fic, sic, ril, riy,
 nil, nin, nis, tik, viq, mid, min, myi, 
aif, vip, qih, ric, diq, lis, rip,fir,siy, 
pih, liv, rig, kin, lil, pit, kis, hiy,
eiv, sik, pii, lir, cia, tia, kin, dim, min, lin .

REFERENCE   1  (residues 1 to 769)
  AUTHORS   Ryynanen J et al. 
  TITLE     Class 3 semaphorins are transcriptionally regulated by 1,25(OH)2D3
            in osteoblasts
  JOURNAL   J. Steroid Biochem. Mol. Biol. 173, 185-193 (2017)
 
REFERENCE   2  (residues 1 to 769)
  AUTHORS   Xu X, Zhao Z et al. 
  TITLE     Increased semaphorin 3c expression promotes tumor growth and
            metastasis in pancreatic ductal adenocarcinoma by activating the
            ERK1/2 signaling pathway
  JOURNAL   Cancer Lett. 397, 12-22 (2017)
 
REFERENCE   3  (residues 1 to 769)
  AUTHORS   Tam KJ, Dalal K et al. 
  TITLE     Androgen receptor transcriptionally regulates semaphorin 3C in a
            GATA2-dependent manner
  JOURNAL   Oncotarget 8 (6), 9617-9633 (2017) 
    Remark 4
 PUBMED   28036336
  REMARK    GeneRIF: Furin-sema3C could perhaps be used for the treatment of AMD.
            Publication Status: Online-Only (2016)
 
REFERENCE   5  (residues 1 to 769)
  AUTHORS   Nasarre P, Gemmill RM and Drabkin HA.
  TITLE     The emerging role of class-3 semaphorins and their neuropilin
            receptors in oncology
  JOURNAL   Onco Targets Ther 7, 1663-1687 (2014) 

REFERENCE   6  (residues 1 to 769)
  AUTHORS   Yamada T, Endo R, Gotoh M and Hirohashi S.
  TITLE     Identification of semaphorin E as a non-MDR drug resistance gene of
            human cancers
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 94 (26), 14713-14718 (1997)
 
Related articles in PubMed
  1. Class 3 semaphorins in cardiovascular development. Valdembri D, et al. Cell Adh Migr, 2016 Nov. PMID 27439112, Free PMC Article Secreted class 3 semaphorins (Sema3), which signal through holoreceptor complexes that are formed by different subunits, such as neuropilins (Nrps), proteoglycans, and plexins, were initially characterized as fundamental regulators of axon guidance during embryogenesis. Subsequently, Sema3A, Sema3C, Sema3D, and Sema3E were discovered to play crucial roles in cardiovascular development, mainly acting through Nrp1 and Plexin D1, which funnels the signal of multiple Sema3 in vascular endothelial cells. Mechanistically, Sema3 proteins control cardiovascular patterning through the enzymatic GTPase-activating-protein activity of the cytodomain of Plexin D1, which negatively regulates the function of Rap1, a small GTPase that is well-known for its ability to drive vascular morphogenesis and to elicit the conformational activation of integrin adhesion receptors.
  1. Expression of Semaphorin 3C in Breast Cancer and its Impact on Adhesion and Invasion of Breast Cancer Cells. Malik MF, et al. Anticancer Res, 2016 Mar. PMID 26977026
See all (46) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?
  1. Glioma stem cells preferentially secrete Sema3C and coordinately express PlexinA2/D1 receptors to activate Rac1/nuclear factor (NF)-kB signaling.

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