MGC50722

MGC50722
Identifikatori
Aliasi
Vanjski ID-jevi	GeneCards: [1]
Ortolozi
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	Wikipodaci
Pogledaj/uredi – čovjek

MGC50722, znan i kao neokarakterizirani protein LOC399693, je protein koji je kod ljudi kodiran genom MGC50722 (skr. eng. Mammalian Gene Collection Project Gene 50722^[1]). Ovaj 965-aminokiselinski ljudski protein ima molekulsku težinu 104,495 kDa i jedan domen nepoznate funkcije (DUF390).^[2] Općenito konzerviran kod sisara, ovaj brzo evoluirajući gen pokazuje relativno nisku ekspresiju u većini ljudskih tkiva, osim u sjemenicima.^[3]^[4]

Gen

Ljudski gen pune sdužine ima 40.364 parova baza, dok je neobrađena iRNK duga 25.960 parova baza. Nakon prerade introna, gen sa 10 egzona ima konačnu dužinu iRNK od 3.596 parova baza koja kodira 965 aminokiselina.^[2]^[5]^[6]

Lokus

Ljudski MGC50722 nalazi se na minus lancu hromosoma 9 u regiji q34 genoma (NCBI gen ID: 399693). Najokarakteriziraniji gen u ovoj regiji ljudskog genoma je GPSM1, koji kodira G-proteinski signalni modulator 1.^[7]

Protein

Primarna sekvenca i izoforme

Ljudski protein MGC50722 ima 104,495 kDa, sa izoelektričnom tačkom od 10,24. Mješovita nabijena skupina aminokiselina prisutna je između položaja 146 i 182, za koju se čini da je konzervirana kod primata, ali nije prisutna kod drugih sisara. Kod ljudi postoji i šest predviđenih izoformi.^[2]

Subćelijski lokalizacijski signali

PSORTII serveri Arhivirano 6. 9. 2021. na Wayback Machine predviđaju pet signala jedarne lokalizacije u ljudskom proteinu MGC50722. Kada su ortologne sekvence ljudskog proteina provedene kroz PSORT II, predviđena jedarna subćelijska lokalizacija bila je konsenzusno predviđanje.

Predviđena signalna jedarna lokalizacija proteina MGC50722
Tip signala	Raspon ostataka	Aminokiselinska sekvenca
pat4	46-49	RPRK
pat4	148-151	KPKR
pat7	43-49	PQQRPRK
pat7	149-155	PKRVKSS
pat7	302-308	PSKRRLQ

Posttranslacijske modifikacije

Ortolog ljudskog proteina MGC50722 kod miševa, protein 4932418E24Rik, eksperimentalno je odredio mjesta fosforilacije na S588, S591 i S670 u sjemenicima (pTestis ID: PT-MM-02686 Arhivirano 6. 3. 2016. na Wayback Machine).^[8]^[9]^[10] Serveri predviđanja na ExPASy također predviđaju više mjesta fosforilacije (NetPhos 2.0 Server), N-terminalno mjesto acetilacije (NetAcet 1.0 Server), mjesta glikacije (NetGlycate 1.0 Server) i mjesto GalNAc O-glikozilacije (NetOGlyc 4.0 Server) at conserved residues in the human MGC50722 protein.

Sekundarna struktura

Modeli predviđanja okarakterizirali su protein MGC50722 uglavnom poremećenim, ali sa dvije regije upredenih zavojnica.

Unutrašnja struktura i svojstva proteina

Svojstvo	Raspon ostataka
Regija niske kompleksnosti^[6]	11 – 26
DUF390^[11]^[12]	405 – 690
Regija niske kompleksnosti ^[6]	410 – 423
Regija niske kompleksnosti ^[6]	546 – 556
Upredena zavojnica^[6]	546 – 566
Regija niske kompleksnosti^[6]	606 – 621
Upredena zavojnica.^[6]	720 – 753
Regija niske kompleksnosti ^[6]	771 – 791
Regija niske kompleksnosti ^[6]	871 – 884

Proteinska sekvenca primarne aminokiselinske strukture MGC50722 i njene unutrašnje karakteristike/strukture

Potencijalna funkcija

Funkcija proteina MGC50722 je nepoznata. S obzirom na to da se preferirano eksprimiraa u testisima i čini se da je subćelijski lokaliziran u jedru, mogao bi imati važnu ulogu u čelijama gameta.

Ekspresija

Nivo ekspresije ljudskog MGC50722 je nizak/odsutan u većini tipova ćelija, a najveći i najobilniji i je u sjemenicima (GEO Profile IDs: 48997768 and 49895282).^[13] Studija raka pluća također je pokazala da je MGC50722 eksprimiran u CD4+ T-ćelijama normalnih uzoraka ljudskog tkiva.^[14]

Promotor

Početno mjesto transkripcije za MGC50722 najbolje se poravnava sa SPZ1, faktorom određivanja testis (SRY), SP1F i FAST-ovim ^[15] veznim mjestima transkripcijskog faktora.

Homologija i evolucija

Divergencija ljudskog gena MGC50722 prema lancu fibrinogena alfa i citohroma C.
Svaka tačka podataka na grafikonu predstavlja drugi tip i homologni gen date vrste, identificiran BLAST-om. BLAST-ove pretrage provedene su korištenjem ljudskog gena MGC50722, fibrinogena i citohroma C, a postotak identiteta ucrtan je prema stvarnom odstupanju od čovjeka za dati tip homolognog gena

Paralozi

Utvrđeno je da je protein 350 povezan s centrosomom (CEP350) jedini mogući paralog proteinu MGC50722 kod ljudi. CEP350 je protein dug 3117 aminokiselina i poravnava se s proteinom MGC50722 na svom N-kraju. Ovo ukazuje na to da je razmak paraloga vrlo udaljen kada se MGC50722 odvoji od CEP350.

Ortolozi

Konkurentni ortolozi za protein MGC50722 nalaze se samo u sisara, gdje se najviše konzervacije nalazi u N-terminalu i DUF390.

Udaljeni homolozi

Najdalji homolog koji se može otkriti je u hrskavičavih riba (divergencija prije 462,5 miliona godina).

Homologni domen

Domen nepoznate funkcije 390 (pfam04094: DUF390) dio je porodice proteina koji su identifikovani samo u genomu riža. Iako je funkcija ovog domena nepoznata, to može biti neki tip prijenosnog elementa.^[11]

Klinički značaj

Značajan GEO profil koji se odnosi na MGC50722 bila je studija provedena na muškoj plodnosti kod ljudi gledajući na bolest teratozoospermiju (GEO Profile ID: 38113951).^[13] Teratozoospermija je stanje u kojem se tokom razvoja zrelih ćelija mijenja morfologija spermatozoida, što dovodi do, u nekim slučajevima, muške neplodnosti.^[16] Ekspresija gena pokazuje da je kod normalnih ljudi MGC50722 ispoljen, dok kod onih sa teratozoospermijom nivo ekspresije značajno opada ili se isključuje.

Reference

^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
^ ^a ^b ^c "Homo sapiens uncharacterized protein LOC399693". NCBI Protein.
^ "Uncharacterized MGC50722 (MGC50722)". NCBI UniGene.
^ Tang; et al. (2007). "Characteristics of 292 Testis-Specific Genes in Human". Biological and Pharmaceutical Bulletin. 30 (5): 865–872. doi:10.1248/bpb.30.865. PMID 17473427.
^ "Homo sapiens uncharacterized MGC50722 (MGC50722), transcript variant 1, mRNA". NCBI Nucleotide. 24. 9. 2018.
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ "Transcript: MGC50722-001 ENST00000569961 Protein Summary". Ensembl.
^ "MGC50722 uncharacterized MGC50722 [ Homo sapiens (human) ]". NCBI Gene. Mar 2015.
^ Qi L, Liu Z, Wang J, Cui Y, Guo Y, Zhou T, Zhou Z, Guo X, Xue Y, Sha J (Dec 2014). "Systematic analysis of the phosphoproteome and kinase-substrate networks in the mouse testis". Molecular & Cellular Proteomics. 13 (12): 3626–38. doi:10.1074/mcp.M114.039073. PMC 4256510. PMID 25293948.
^ "4932418E24Rik".
^ Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A (2011). "A high-resolution anatomical atlas of the transcriptome in the mouse embryo". PLOS Biology. 9 (1): e1000582. doi:10.1371/journal.pbio.1000582. PMC 3022534. PMID 21267068.
^ ^a ^b "Conserved Protein Domain Family DUF390".
^ "MGC50722 uncharacterized MGC50722 [Homo sapiens (human)]". NCBI Gene.
^ ^a ^b Barrett T, Wilhite SE, Ledoux P, Evangelista C, Kim IF, Tomashevsky M, Marshall KA, Phillippy KH, Sherman PM, Holko M, Yefanov A, Lee H, Zhang N, Robertson CL, Serova N, Davis S, Soboleva A (Jan 2013). "NCBI GEO: archive for functional genomics data sets--update". Nucleic Acids Research. 41 (Database issue): D991–D995. doi:10.1093/nar/gks1193. PMC 3531084. PMID 23193258.
^ Ahn, Jung-Mo; et al. (Nov 2013). "Proteogenomic Analysis of Human Chromosome 9-Encoded Genes from Human Samples and Lung Cancer Tissues". Journal of Proteome Research. 13 (1): 137–146. doi:10.1021/pr400792p. PMC 3918476. PMID 24274035.
^ Yeo CY, Chen X, Whitman M (Sep 1999). "The role of FAST-1 and Smads in transcriptional regulation by activin during early Xenopus embryogenesis". The Journal of Biological Chemistry. 274 (37): 26584–90. doi:10.1074/jbc.274.37.26584. PMID 10473623.
^ Machev N, Gosset P, Viville S (2005). "Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia". Cytogenetic and Genome Research. 111 (3–4): 352–357. doi:10.1159/000086910. PMID 16192715. S2CID 36272097.

Dopunska literatura

Wagner F, French L, Veh RW (Sep 2014). "Transcriptomic-anatomic analysis of the mouse habenula uncovers a high molecular heterogeneity among neurons in the lateral complex, while gene expression in the medial complex largely obeys subnuclear boundaries". Brain Structure & Function. 221 (1): 39–58. doi:10.1007/s00429-014-0891-9. PMID 25244943. S2CID 18004946.
Foong RE, Bosco A, Jones AC, Gout A, Gorman S, Hart PH, Zosky GR (Apr 2015). "In utero Vitamin D Deficiency Increases Airway Smooth Muscle Mass and Impairs Lung Function". American Journal of Respiratory Cell and Molecular Biology. 53 (5): 664–75. doi:10.1165/rcmb.2014-0356OC. PMID 25867172.
Dobrin, Radu, et al. (2009). "Multi-tissue coexpression networks reveal unexpected subnetworks associated with disease". Faculty Papers and Publications in Animal Scienced. 10 (5): R55. doi:10.1186/gb-2009-10-5-r55. PMC 2718521. PMID 19463160.
Ediger, BN, Du, A, Liu, J, Hunter, CS, Walp, ER, Schug, J, May, CL (Dec 2014). "Islet-1 Is essential for pancreatic β-cell function". Diabetes. 63 (12): 4206–17. doi:10.2337/db14-0096. PMC 4237994. PMID 25028525.
Vamathevan, JJ (Jan 2009). Evolutionary analysis of mammalian genomes and associations to human disease (Thesis). University College London.

[1] Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

[:0-2] "Homo sapiens uncharacterized protein LOC399693". NCBI Protein.

[3] "Uncharacterized MGC50722 (MGC50722)". NCBI UniGene.

[4] Tang; et al. (2007). "Characteristics of 292 Testis-Specific Genes in Human". Biological and Pharmaceutical Bulletin. 30 (5): 865–872. doi:10.1248/bpb.30.865. PMID 17473427.

[5] "Homo sapiens uncharacterized MGC50722 (MGC50722), transcript variant 1, mRNA". NCBI Nucleotide. 24. 9. 2018.

[:1-6] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ "Transcript: MGC50722-001 ENST00000569961 Protein Summary". Ensembl.

[7] "MGC50722 uncharacterized MGC50722 [ Homo sapiens (human) ]". NCBI Gene. Mar 2015.

[8] Qi L, Liu Z, Wang J, Cui Y, Guo Y, Zhou T, Zhou Z, Guo X, Xue Y, Sha J (Dec 2014). "Systematic analysis of the phosphoproteome and kinase-substrate networks in the mouse testis". Molecular & Cellular Proteomics. 13 (12): 3626–38. doi:10.1074/mcp.M114.039073. PMC 4256510. PMID 25293948.

[9] "4932418E24Rik".

[10] Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A (2011). "A high-resolution anatomical atlas of the transcriptome in the mouse embryo". PLOS Biology. 9 (1): e1000582. doi:10.1371/journal.pbio.1000582. PMC 3022534. PMID 21267068.

[:3-11] "Conserved Protein Domain Family DUF390".

[:2-12] "MGC50722 uncharacterized MGC50722 [Homo sapiens (human)]". NCBI Gene.

[:4-13] Barrett T, Wilhite SE, Ledoux P, Evangelista C, Kim IF, Tomashevsky M, Marshall KA, Phillippy KH, Sherman PM, Holko M, Yefanov A, Lee H, Zhang N, Robertson CL, Serova N, Davis S, Soboleva A (Jan 2013). "NCBI GEO: archive for functional genomics data sets--update". Nucleic Acids Research. 41 (Database issue): D991–D995. doi:10.1093/nar/gks1193. PMC 3531084. PMID 23193258.

[14] Ahn, Jung-Mo; et al. (Nov 2013). "Proteogenomic Analysis of Human Chromosome 9-Encoded Genes from Human Samples and Lung Cancer Tissues". Journal of Proteome Research. 13 (1): 137–146. doi:10.1021/pr400792p. PMC 3918476. PMID 24274035.

[15] Yeo CY, Chen X, Whitman M (Sep 1999). "The role of FAST-1 and Smads in transcriptional regulation by activin during early Xenopus embryogenesis". The Journal of Biological Chemistry. 274 (37): 26584–90. doi:10.1074/jbc.274.37.26584. PMID 10473623.

[16] Machev N, Gosset P, Viville S (2005). "Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia". Cytogenetic and Genome Research. 111 (3–4): 352–357. doi:10.1159/000086910. PMID 16192715. S2CID 36272097.

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