HBBP1

HBBP1
Identifikatori
Aliasi	HBBP1
Vanjski ID-jevi	GeneCards: HBBP1
Ortolozi
	3044
	n/a
	ENSG00000229988
	n/a
	n; a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Pseudogen 1 hemoglobina beta je ljudski pseudogen sa simbolom HBBP1. ^[2] Eukariotski faktor elongacije-1 (EF1) sastoji se od črtiri podjedinice, EF1-alfa (EEF1A1), EF1-beta, EF1-gama (EEF1G) i EF1-delta (EEF1D). EIF-alfa-GTP prenosi aminoacil-tRNK u ribosom, a oslobađanje animoacil-tRNK iz EIF-alfa-GTP podstiče se GTP-hidrolizom. Podjedinice EF1-beta, -gama i -delta recikliraju EF1-alfa-BDP u EF1-alfa-GTP (Sanders et al., 1996).^[3] Gen EEF1B2 mapirali su Pizzuti et al. (1993) na hromosomu 2, PCR analizom hibridne DNK ploče somatskih ćelija

Kloniranje i ekspresija

Sanders et al. (1991) identificirali su ljudsku EF1-beta cDNK, hibridizacijom sa svinjskom EF1-beta sondom.^[4] Imunofluorescentnom analizom, otkrili su da EF1 -beta, -gama i -delta pokazuju perijedarnu raspodjelu i kolokaliziraju se s rezidentnim proteinom endoplazmatskog retikuluma u ljudskim fibroblastima prepucija. Nasuprot tome, EF1-alfa je pokazao jako jedarno i difuzno citoplazmatsko bojenje.

Pseudogeni

Iz biblioteke cDNK ljudskih granuloznih ćelija jajnika, von der Kammer et al. (1991) izolirali su cDNK za koju se činilo da kodira ljudskii EF1-beta.^[5]

Gen koji odgovara ovoj cDNK mapiran je u hromosom 15, PCR analizom hromosomske hibridne ploče (Pizzuti et al, 1993). Chambers et al. (2001) utvrdili su da je gen koji su izolovali von der Kammer i sar. (1991) je zapravo obrađeni pseudogen na hromozomu 15 koji odgovara alternativno prersđenom obliku EEF1B2.^[6] Dva dodatna pseudogena, prethodno označena kao EEF1B3 I EEF1B4, Pizzuti et al, mapirali su na hromosom 5 i hromosom X.^[7]

Reference

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Hemoglobin, beta pseudogene 1". Pristupljeno 7. 5. 2013.
^ Sanders, J., Brandsma, M., Janssen, G. M. C., Dijk, J., Moller, W. Immunofluorescence studies of human fibroblasts demonstrate the presence of the complex of elongation factor-1-beta-gamma-delta in the endoplasmic reticulum. J. Cell Sci. 109: 1113-1117, 1996. PubMed: 8743958
^ Sanders, J., Maassen, J. A., Amons, R., Moller, W. Nucleotide sequence of human elongation factor-1-beta cDNA. Nucleic Acids Res. 19: 4551, 1991. PubMed: 1886777
^ von der Kammer, H., Klaudiny, J., Zimmer, M., Scheit, K. H. Human elongation factor 1-beta: cDNA and derived amino acid sequence. Biochem. Biophys. Res. Commun. 177: 312-317, 1991. PubMed: 1710449
^ Chambers, D. M., Rouleau, G. A., Abbott, C. M. Comparative genomic analysis of genes encoding translation elongation factor 1B-alpha in human and mouse shows EEF1B1 to be a recent retrotransposition event. Genomics 77: 145-148, 2001. PubMed: 11597139
^ Pizzuti, A., Gennarelli, M., Novelli, G., Colosimo, A., Cicero, S. L., Caskey, C. T., Dallapiccola, B. Human elongation factor EF-1-beta: cloning and characterization of the EF1-beta-5a gene and assignment of EF-1-beta isoforms to chromosomes 2, 5, 15 and X. Biochem. Biophys. Res. Commun. 197: 154-162, 1993. PubMed: 8250921

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

[entrez-2] "Entrez Gene: Hemoglobin, beta pseudogene 1". Pristupljeno 7. 5. 2013.

[3] Sanders, J., Brandsma, M., Janssen, G. M. C., Dijk, J., Moller, W. Immunofluorescence studies of human fibroblasts demonstrate the presence of the complex of elongation factor-1-beta-gamma-delta in the endoplasmic reticulum. J. Cell Sci. 109: 1113-1117, 1996. PubMed: 8743958

[4] Sanders, J., Maassen, J. A., Amons, R., Moller, W. Nucleotide sequence of human elongation factor-1-beta cDNA. Nucleic Acids Res. 19: 4551, 1991. PubMed: 1886777

[5] von der Kammer, H., Klaudiny, J., Zimmer, M., Scheit, K. H. Human elongation factor 1-beta: cDNA and derived amino acid sequence. Biochem. Biophys. Res. Commun. 177: 312-317, 1991. PubMed: 1710449

[6] Chambers, D. M., Rouleau, G. A., Abbott, C. M. Comparative genomic analysis of genes encoding translation elongation factor 1B-alpha in human and mouse shows EEF1B1 to be a recent retrotransposition event. Genomics 77: 145-148, 2001. PubMed: 11597139

[7] Pizzuti, A., Gennarelli, M., Novelli, G., Colosimo, A., Cicero, S. L., Caskey, C. T., Dallapiccola, B. Human elongation factor EF-1-beta: cloning and characterization of the EF1-beta-5a gene and assignment of EF-1-beta isoforms to chromosomes 2, 5, 15 and X. Biochem. Biophys. Res. Commun. 197: 154-162, 1993. PubMed: 8250921

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