TMEM48

TMEM48
Identifikatori
Aliasi	NDC1
Vanjski ID-jevi	OMIM: 610115 MGI: 1920037 HomoloGene: 41224 GeneCards: NDC1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	53,838,463 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	107,273,543 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0005487 structural constituent of nuclear pore;
Ćelijska komponenta	• citoplazma; • integral component of membrane; • Jedarna membrana; • nuclear envelope; • membrana; • ćelijska membrana; • jedrova pora; • actin cytoskeleton; • jedro; • Polarno tijelo diobenog vretena; • nuclear pore transmembrane ring; • host cell;
Biološki proces	• mRNA transport; • nuclear pore complex assembly; • viral transcription; • protein sumoylation; • mitotic nuclear membrane disassembly; • homologous chromosome pairing at meiosis; • Spermatogeneza; • protein transport; • regulation of cellular response to heat; • GO:0022415 viral process; • mRNA export from nucleus; • GO:0046795 intracellular transport of virus; • tRNA export from nucleus; • spindle pole body duplication; • GO:1905616 regulation of gene silencing by miRNA; • regulation of glycolytic process; • GO:0015915 transport; • nuclear pore organization;
	Izvori:Amigo / QuickGO
Ortolozi
	55706
	72787
	ENSG00000058804
	ENSMUSG00000028614
	Q9BTX1
	Q8VCB1
	NM_001168551; NM_018087
	NM_028355
	NP_001162023; NP_060557
	NP_082631
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Nukleoporin NDC1 jest protein koji je kod ljudi kodiran genom TMEM48 sa hromosoma 1.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 674 aminokiseline, a molekulska težina 76.305 Da.^[8].

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
MATAVSRPCA	GRSRDILWRV	LGWRIVASIV	WSVLFLPICT	TVFIIFSRID
LFHPIQWLSD	SFSDLYSSYV	IFYFLLLSVV	IIIISIFNVE	FYAVVPSIPC
SRLALIGKII	HPQQLMHSFI	HAAMGMVMAW	CAAVITQGQY	SFLVVPCTGT
NSFGSPAAQT	CLNEYHLFFL	LTGAFMGYSY	SLLYFVNNMN	YLPFPIIQQY
KFLRFRRSLL	LLVKHSCVES	LFLVRNFCIL	YYFLGYIPKA	WISTAMNLHI
DEQVHRPLDT	VSGLLNLSLL	YHVWLCGVFL	LTTWYVSWIL	FKIYATEAHV
FPVQPPFAEG	SDECLPKVLN	SNPPPIIKYL	ALQDLMLLSQ	YSPSRRQEVF
SLSQPGGHPH	NWTAISRECL	NLLNGMTQKL	ILYQEAAATN	GRVSSSYPVE
PKKLNSPEET	AFQTPKSSQM	PRPSVPPLVK	TSLFSSKLST	PDVVSPFGTP
FGSSVMNRMA	GIFDVNTCYG	SPQSPQLIRR	GPRLWTSASD	QQMTEFSNPS
PSTSISAEGK	TMRQPSVIYS	WIQNKREQIK	NFLSKRVLIM	YFFSKHPEAS
IQAVFSDAQM	HIWALEGLSH	LVAASFTEDR	FGVVQTTLPA	ILNTLLTLQE
AVDKYFKLPH	ASSKPPRISG	SLVDTSYKTL	RFAFRASLKT	AIYRITTTFG
EHLNAVQASA	EHQKRLQQFL	EFKE

Funkcija

Nukleoporin NDC1 sidri aladin za kompleks jedarnih pora.^[9]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000058804 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028614 - 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.
^ Lau CK, Delmar VA, Forbes DJ (Aug 2006). "Topology of yeast Ndc1p: predictions for the human NDC1/NET3 homologue". Anat Rec A. 288 (7): 681–94. doi:10.1002/ar.a.20335. PMC 3049984. PMID 16779818.
^ Schirmer EC, Florens L, Guan T, Yates JR 3rd, Gerace L (Sep 2003). "Nuclear membrane proteins with potential disease links found by subtractive proteomics". Science. 301 (5638): 1380–2. Bibcode:2003Sci...301.1380S. doi:10.1126/science.1088176. PMID 12958361. S2CID 23832536.
^ "Entrez Gene: TMEM48 transmembrane protein 48".
^ "UniProt, Q9BTX1" (jezik: англ.). Pristupljeno 28 серпня 2017. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)CS1 održavanje: nepoznati jezik (link)
^ Kind, Barbara; Koehler, Katrin; Lorenz, Mike; Huebner, Angela (decembar 2009). "The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope". Biochemical and Biophysical Research Communications. 390 (2): 205–210. doi:10.1016/j.bbrc.2009.09.080. PMID 19782045.

Dopunska literatura

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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
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.
Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
Mansfeld J, Güttinger S, Hawryluk-Gara LA, et al. (2006). "The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells". Mol. Cell. 22 (1): 93–103. doi:10.1016/j.molcel.2006.02.015. PMID 16600873.
Stavru F, Hülsmann BB, Spang A, et al. (2006). "NDC1: a crucial membrane-integral nucleoporin of metazoan nuclear pore complexes" (PDF). J. Cell Biol. 173 (4): 509–19. doi:10.1083/jcb.200601001. PMC 2063861. PMID 16702233.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000058804 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028614 - 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.

[pmid16779818-5] Lau CK, Delmar VA, Forbes DJ (Aug 2006). "Topology of yeast Ndc1p: predictions for the human NDC1/NET3 homologue". Anat Rec A. 288 (7): 681–94. doi:10.1002/ar.a.20335. PMC 3049984. PMID 16779818.

[pmid12958361-6] Schirmer EC, Florens L, Guan T, Yates JR 3rd, Gerace L (Sep 2003). "Nuclear membrane proteins with potential disease links found by subtractive proteomics". Science. 301 (5638): 1380–2. Bibcode:2003Sci...301.1380S. doi:10.1126/science.1088176. PMID 12958361. S2CID 23832536.

[entrez-7] "Entrez Gene: TMEM48 transmembrane protein 48".

[UniProt-8] "UniProt, Q9BTX1" (jezik: англ.). Pristupljeno 28 серпня 2017. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)CS1 održavanje: nepoznati jezik (link)

[9] Kind, Barbara; Koehler, Katrin; Lorenz, Mike; Huebner, Angela (decembar 2009). "The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope". Biochemical and Biophysical Research Communications. 390 (2): 205–210. doi:10.1016/j.bbrc.2009.09.080. PMID 19782045.

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