Showing Protein Neuroendocrine secretory protein 55 (HMDBP10802)

• 17076

1. GPIPIRRH peptide
2. LHAL tetrapeptide
3. NESP55

1. Secreted
2. Cytoplasmic vesicle
3. secretory vesicle

>738 bp
ATGGATCGGAGGTCCCGGGCTCAGCAGTGGCGCCGAGCTCGCCATAATTACAACGACCTG
TGCCCGCCCATAGGCCGCCGGGCAGCCACCGCGCTCCTCTGGCTCTCCTGCTCCATCGCG
CTCCTCCGCGCCCTTGCCACCTCCAACGCCCGTGCCCAGCAGCGCGCGGCTGCCCAACAG
CGCCGGAGCTTCCTTAACGCCCACCACCGCTCCGGCGCCCAGGTATTCCCTGAGTCCCCC
GAATCGGAATCTGACCACGAGCACGAGGAGGCAGACCTTGAGCTGTCCCTCCCCGAGTGC
CTAGAGTACGAGGAAGAGTTCGACTACGAGACCGAGAGCGAGACCGAGTCCGAAATCGAG
TCCGAGACCGACTTCGAGACCGAGCCTGAGACCGCCCCCACCACTGAGCCCGAGACCGAG
CCTGAAGACGATCGCGGCCCGGTGGTGCCCAAGCACTCCACCTTCGGCCAGTCCCTCACC
CAGCGTCTGCACGCTCTCAAGTTGCGAAGCCCCGACGCCTCCCCAAGTCGCGCGCCGCCC
AGCACTCAGGAGCCCCAGAGCCCCAGGGAAGGGGAGGAGCTCAAGCCCGAGGACAAAGAT
CCAAGGGACCCCGAAGAGTCGAAGGAGCCCAAGGAGGAGAAGCAGCGGCGTCGCTGCAAG
CCAAAGAAGCCCACCCGCCGTGACGCGTCCCCGGAGTCCCCTTCCAAAAAGGGACCCATC
CCCATCCGGCGTCACTAA

• NESP55 (PF06390 )

• 1-46

• None

>Neuroendocrine secretory protein 55
MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQ
RRSFLNAHHRSGAQVFPESPESESDHEHEEADLELSLPECLEYEEEFDYETESETESEIE
SETDFETEPETAPTTEPETEPEDDRGPVVPKHSTFGQSLTQRLHALKLRSPDASPSRAPP
STQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPTRRDASPESPSKKGPI
PIRRH

1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
2. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS: A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest. 2000 Nov;106(9):1167-74. [PubMed:11067869 ]
3. Bastepe M, Lane AH, Juppner H: Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet. 2001 May;68(5):1283-9. Epub 2001 Apr 9. [PubMed:11294659 ]
4. Wu WI, Schwindinger WF, Aparicio LF, Levine MA: Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. J Biol Chem. 2001 Jan 5;276(1):165-71. [PubMed:11029463 ]
5. Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet. 2003 Aug;73(2):314-22. Epub 2003 Jul 11. [PubMed:12858292 ]
6. Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB: Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab. 2003 May;88(5):2147-51. [PubMed:12727968 ]
7. Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003 Oct;112(8):1255-63. [PubMed:14561710 ]
8. Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M: A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet. 2005 May;76(5):804-14. Epub 2005 Mar 30. [PubMed:15800843 ]
9. Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Juppner H: Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005 Jan;37(1):25-7. Epub 2004 Dec 12. [PubMed:15592469 ]
10. Hayward BE, Bonthron DT: An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet. 2000 Mar 22;9(5):835-41. [PubMed:10749992 ]
11. Hayward BE, Moran V, Strain L, Bonthron DT: Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15475-80. [PubMed:9860993 ]
12. Weiss U, Ischia R, Eder S, Lovisetti-Scamihorn P, Bauer R, Fischer-Colbrie R: Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. Neuroendocrinology. 2000 Mar;71(3):177-86. [PubMed:10729789 ]