GLMN

GLMN
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4F52
Identifikatori
Aliasi	GLMN
Vanjski ID-jevi	OMIM: 601749 MGI: 2141180 HomoloGene: 14239 GeneCards: GLMN
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	92,298,987 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	107,745,754 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• ubiquitin-protein transferase inhibitor activity; • GO:0001948, GO:0016582 vezivanje za proteine; • ubiquitin protein ligase binding; • hepatocyte growth factor receptor binding;
Ćelijska komponenta	• Cul4A-RING E3 ubiquitin ligase complex; • Cul2-RING ubiquitin ligase complex; • cullin-RING ubiquitin ligase complex; • Cul3-RING ubiquitin ligase complex; • intracellular anatomical structure; • citoplazma;
Biološki proces	• Vaskulogeneza; • muscle cell differentiation; • negative regulation of T cell proliferation; • neural tube closure; • positive regulation of phosphorylation; • circulatory system development; • regulation of gene expression, epigenetic; • regulation of proteasomal ubiquitin-dependent protein catabolic process; • negative regulation of protein ubiquitination;
	Izvori:Amigo / QuickGO
Ortolozi
	11146
	170823
	ENSG00000174842
	ENSMUSG00000029276
	Q92990
	Q8BZM1
	NM_007070; NM_053274; NM_001319683
	NM_001161738; NM_001161739; NM_133248
	NP_001306612; NP_444504
	NP_001155210; NP_001155211; NP_573511
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Glomulin jest protein koji je kod ljudi kodiran genom GLMN sa hromosoma 1.^[5]^[6]

Aminokiselininska sekvenca uredi

Dužina polipeptidnog lanca je 594 aminokiseline, a molekulska težina 68 208 Da.^[7].

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MAVEELQSII	KRCQILEEQD	FKEEDFGLFQ	LAGQRCIEEG	HTDQLLEIIQ
NEKNKVIIKN	MGWNLVGPVV	RCLLCKDKED	SKRKVYFLIF	DLLVKLCNPK
ELLLGLLELI	EEPSGKQISQ	SILLLLQPLQ	TVIQKLHNKA	YSIGLALSTL
WNQLSLLPVP	YSKEQIQMDD	YGLCQCCKAL	IEFTKPFVEE	VIDNKENSLE
NEKLKDELLK	FCFKSLKCPL	LTAQFFEQSE	EGGNDPFRYF	ASEIIGFLSA
IGHPFPKMIF	NHGRKKRTWN	YLEFEEEENK	QLADSMASLA	YLVFVQGIHI
DQLPMVLSPL	YLLQFNMGHI	EVFLQRTEES	VISKGLELLE	NSLLRIEDNS
LLYQYLEIKS	FLTVPQGLVK	VMTLCPIETL	RKKSLAMLQL	YINKLDSQGK
YTLFRCLLNT	SNHSGVEAFI	IQNIKNQIDM	SLKRTRNNKW	FTGPQLISLL
DLVLFLPEGA	ETDLLQNSDR	IMASLNLLRY	LVIKDNENDN	QTGLWTELGN
IENNFLKPLH	IGLNMSKAHY	EAEIKNSQEA	QKSKDLCSIT	VSGEEIPNMP
PEMQLKVLHS	ALFTFDLIES	VLARVEELIE	IKTKSTSEEN	IGIK

Funkcija uredi

Ovaj gen kodira fosforilirani protein koji je član Skp1-kulin-F-kutijskog kompleksa. Protein je neophodan za normalan razvoj vaskulature; mutacije ovog gena povezane su sa glomuvenoznim malformacijama, koje se takođe nazivaju glomangiomi. Opisane su alternativno prerađene varijante koje kodiraju različite izoforme proteina, ali je određena priroda pune dužine samo jednog.^[6]

Interakcije uredi

Pokazalo se da je GLMN u interakciji sa FKBP4,^[5]^[8] C-Met^[9] i FKBP1A.^[5]^[8]

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000174842 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029276 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c Chambraud B, Radanyi C, Camonis JH, Shazand K, Rajkowski K, Baulieu EE (Jan 1997). "FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin". J Biol Chem. 271 (51): 32923–9. doi:10.1074/jbc.271.51.32923. PMID 8955134.
^ ^a ^b "Entrez Gene: GLMN glomulin, FKBP associated protein".
^ "UniProt, Q92990" (jezik: eng.). Pristupljeno 28. 11. 2021.CS1 održavanje: nepoznati jezik (link)
^ ^a ^b Neye, H (Mar 2001). "Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52". Regul. Pept. Netherlands. 97 (2–3): 147–52. doi:10.1016/S0167-0115(00)00206-8. ISSN 0167-0115. PMID 11164950. S2CID 20617551.
^ Grisendi, S; Chambraud B; Gout I; Comoglio P M; Crepaldi T (Dec 2001). "Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor". J. Biol. Chem. United States. 276 (49): 46632–8. doi:10.1074/jbc.M104323200. ISSN 0021-9258. PMID 11571281.

Dopunska literatura uredi

McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M (2004). "Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse". Gene Expr. Patterns. 4 (3): 351–58. doi:10.1016/j.modgep.2003.09.007. PMID 15053987.
Brouillard P, Vikkula M (2003). "Vascular malformations: localized defects in vascular morphogenesis". Clin. Genet. 63 (5): 340–51. doi:10.1034/j.1399-0004.2003.00092.x. PMID 12752563. S2CID 3058248.
Chambraud B, Radanyi C, Camonis JH, et al. (1999). "Immunophilins, Refsum disease, and lupus nephritis: The peroxisomal enzyme phytanoyl-COA α-hydroxylase is a new FKBP-associated protein". Proc. Natl. Acad. Sci. U.S.A. 96 (5): 2104–9. Bibcode:1999PNAS...96.2104C. doi:10.1073/pnas.96.5.2104. PMC 26744. PMID 10051602.
Boon LM, Brouillard P, Irrthum A, et al. (1999). "A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22". Am. J. Hum. Genet. 65 (1): 125–33. doi:10.1086/302450. PMC 1378082. PMID 10364524.
Brouillard P, Olsen BR, Vikkula M (2001). "High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22". Genomics. 67 (1): 96–101. doi:10.1006/geno.2000.6232. PMID 10945476.
Neye H (2001). "Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52". Regul. Pept. 97 (2–3): 147–52. doi:10.1016/S0167-0115(00)00206-8. PMID 11164950. S2CID 20617551.
Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
Grisendi S, Chambraud B, Gout I, et al. (2002). "Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor". J. Biol. Chem. 276 (49): 46632–8. doi:10.1074/jbc.M104323200. PMID 11571281.
Brouillard P, Boon LM, Mulliken JB, et al. (2002). "Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations ("Glomangiomas")". Am. J. Hum. Genet. 70 (4): 866–74. doi:10.1086/339492. PMC 379115. PMID 11845407.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Krummrei U, Baulieu EE, Chambraud B (2003). "The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis". Proc. Natl. Acad. Sci. U.S.A. 100 (5): 2444–9. Bibcode:2003PNAS..100.2444K. doi:10.1073/pnas.0438007100. PMC 151360. PMID 12604780.CS1 održavanje: više imena: authors list (link)
Arai T, Kasper JS, Skaar JR, et al. (2003). "Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis". Proc. Natl. Acad. Sci. U.S.A. 100 (17): 9855–60. Bibcode:2003PNAS..100.9855A. doi:10.1073/pnas.1733908100. PMC 187864. PMID 12904573.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000174842 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029276 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8955134-5] Chambraud B, Radanyi C, Camonis JH, Shazand K, Rajkowski K, Baulieu EE (Jan 1997). "FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin". J Biol Chem. 271 (51): 32923–9. doi:10.1074/jbc.271.51.32923. PMID 8955134.

[entrez-6] "Entrez Gene: GLMN glomulin, FKBP associated protein".

[UniProt-7] "UniProt, Q92990" (jezik: eng.). Pristupljeno 28. 11. 2021.CS1 održavanje: nepoznati jezik (link)

[pmid11164950-8] Neye, H (Mar 2001). "Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52". Regul. Pept. Netherlands. 97 (2–3): 147–52. doi:10.1016/S0167-0115(00)00206-8. ISSN 0167-0115. PMID 11164950. S2CID 20617551.

[pmid11571281-9] Grisendi, S; Chambraud B; Gout I; Comoglio P M; Crepaldi T (Dec 2001). "Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor". J. Biol. Chem. United States. 276 (49): 46632–8. doi:10.1074/jbc.M104323200. ISSN 0021-9258. PMID 11571281.

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