POLR1A

Glutaminil-peptid ciklotransferaza jest enzim koji je kod ljudi kodiran genom QPCT sa hromosoma 2.

POLR1A
Identifikatori
Aliasi	POLR1A
Vanjski ID-jevi	OMIM: 616404 MGI: 1096397 HomoloGene: 7033 GeneCards: POLR1A
Lokacija gena (čovjek) Hrom. Hromosom 2 (čovjek) Bend 2p11.2 Početak 86,020,216 bp Kraj 86,106,155 bp
Lokacija gena (miš) Hrom. Hromosom 6 (miš) Bend 6 C1|6 32.21 cM Početak 71,886,037 bp Kraj 71,961,919 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • vezivanje sa DNK • nucleotidyltransferase activity • vezivanje iona cinka • vezivanje iona metala • DNA-directed 5'-3' RNA polymerase activity • GO:0001948, GO:0016582 vezivanje za proteine • RNA polymerase I activity • chromatin binding Ćelijska komponenta • nukleoplazma • RNA polymerase I complex • jedro • Jedarce Biološki proces • termination of RNA polymerase I transcription • epigenetic maintenance of chromatin in transcription-competent conformation • transcription initiation from RNA polymerase I promoter • transcription, DNA-templated • negative regulation of protein localization to nucleolus • GO:0001183 transcription elongation from RNA polymerase I promoter Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	25885	20019
Ensembl	ENSG00000068654	ENSMUSG00000049553
UniProt	O95602	O35134
RefSeq (mRNK)	NM_015425	NM_009088
RefSeq (bjelančevina)	NP_056240	NP_033114
Lokacija (UCSC)	Chr 2: 86.02 – 86.11 Mb	Chr 6: 71.89 – 71.96 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 361 aminokiselina, a molekulska težina 40.877 Da.

• 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
MAGGRHRRVV		GTLHLLLLVA		ALPWASRGVS		PSASAWPEEK		NYHQPAILNS
SALRQIAEGT		SISEMWQNDL		QPLLIERYPG		SPGSYAARQH		IMQRIQRLQA
DWVLEIDTFL		SQTPYGYRSF		SNIISTLNPT		AKRHLVLACH		YDSKYFSHWN
NRVFVGATDS		AVPCAMMLEL		ARALDKKLLS		LKTVSDSKPD		LSLQLIFFDG
EEAFLHWSPQ		DSLYGSRHLA		AKMASTPHPP		GARGTSQLHG		MDLLVLLDLI
GAPNPTFPNF		FPNSARWFER		LQAIEHELHE		LGLLKDHSLE		GRYFQNYSYG
GVIQDDHIPF		LRRGVPVLHL		IPSPFPEVWH		TMDDNEENLD		ESTIDNLNKI
LQVFVLEYLH		L

Funkcija

Ovaj gen kodira ljudsku hipofiznu glutaminil-ciklazu, koja je odgovorna za prisustvo piroglutamilnih ostataka u mnogim neuroendokrinim peptidima. Aminokiselinska sekvenca ovog enzima je 86% identična onoj goveđe glutaminil-ciklaze.

Dopunska literatura

• Busby WH, Quackenbush GE, Humm J, et al. (1987). "An enzyme(s) that converts glutaminyl-peptides into pyroglutamyl-peptides. Presence in pituitary, brain, adrenal medulla, and lymphocytes". J. Biol. Chem. 262 (18): 8532–6. doi:10.1016/S0021-9258(18)47446-7. PMID 3597387.
• Bateman RC, Temple JS, Misquitta SA, Booth RE (2001). "Evidence for essential histidines in human pituitary glutaminyl cyclase". Biochemistry. 40 (37): 11246–50. doi:10.1021/bi011177o. PMID 11551224.
• Schilling S, Hoffmann T, Rosche F, et al. (2002). "Heterologous expression and characterization of human glutaminyl cyclase: evidence for a disulfide bond with importance for catalytic activity". Biochemistry. 41 (35): 10849–57. doi:10.1021/bi0260381. PMID 12196024.
• 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.
• Schilling S, Niestroj AJ, Rahfeld JU, et al. (2004). "Identification of human glutaminyl cyclase as a metalloenzyme. Potent inhibition by imidazole derivatives and heterocyclic chelators". J. Biol. Chem. 278 (50): 49773–9. doi:10.1074/jbc.M309077200. PMID 14522962.
• Booth RE, Misquitta SA, Bateman RC (2004). "Human pituitary glutaminyl cyclase: expression in insect cells and dye affinity purification". Protein Expr. Purif. 32 (1): 141–6. doi:10.1016/S1046-5928(03)00226-2. PMID 14680951.
• Ezura Y, Kajita M, Ishida R, et al. (2005). "Association of multiple nucleotide variations in the pituitary glutaminyl cyclase gene (QPCT) with low radial BMD in adult women". J. Bone Miner. Res. 19 (8): 1296–301. doi:10.1359/JBMR.040324. PMID 15231017. S2CID 8470506.
• 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.
• Huang KF, Liu YL, Cheng WJ, et al. (2005). "Crystal structures of human glutaminyl cyclase, an enzyme responsible for protein N-terminal pyroglutamate formation". Proc. Natl. Acad. Sci. U.S.A. 102 (37): 13117–22. doi:10.1073/pnas.0504184102. PMC 1201592. PMID 16135565.
• Huang QY, Kung AW (2007). "The association of common polymorphisms in the QPCT gene with bone mineral density in the Chinese population". Journal of Human Genetics. 52 (9): 757–62. doi:10.1007/s10038-007-0178-6. PMID 17687619.