RPH3AL

RPH3AL
Identifiers
Aliases	RPH3AL , NOC2, rabphilin 3A-like (without C2 domains), rabphilin 3A like (without C2 domains)
External IDs	OMIM: 604881; MGI: 1923492; HomoloGene: 5078; GeneCards: RPH3AL; OMA:RPH3AL - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p13.3 Start 212,389 bp [1] End 386,254 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B5 Start 75,721,825 bp [2] End 75,829,255 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas anterior pituitary islet of Langerhans right adrenal gland left adrenal cortex sural nerve right adrenal cortex right lobe of liver gonad right lobe of thyroid gland Top expressed in primary oocyte islet of Langerhans zygote epithelium of stomach secondary oocyte otolith organ utricle pituitary gland Paneth cell external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding cytoskeletal protein binding protein binding calcium-dependent phospholipid binding LIM domain binding Cellular component cytoplasm secretory granule membrane membrane transport vesicle membrane secretory granule cytoplasmic vesicle plasma membrane intracellular anatomical structure Biological process glucose homeostasis regulation of exocytosis positive regulation of protein secretion intracellular protein transport negative regulation of G protein-coupled receptor signaling pathway exocytosis regulation of calcium ion-dependent exocytosis positive regulation of insulin secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9501 380714 Ensembl ENSG00000181031 ENSG00000262334 ENSG00000282013 ENSMUSG00000020847 UniProt Q9UNE2 Q768S4 RefSeq (mRNA) NM_001190411 NM_001190412 NM_001190413 NM_006987 NM_001291159 NM_029548 RefSeq (protein) NP_001177340 NP_001177341 NP_001177342 NP_008918 NP_001278088 NP_083824 Location (UCSC) Chr 17: 0.21 – 0.39 Mb Chr 11: 75.72 – 75.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rab effector Noc2 is a protein that in humans is encoded by the RPH3AL gene. ^{[5] [6]}

Interactions

RPH3AL has been shown to interact with RAB27A. ^{[7] [8]}

References

1. ENSG00000262334, ENSG00000282013 GRCh38: Ensembl release 89: ENSG00000181031, ENSG00000262334, ENSG00000282013 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020847 – Ensembl, May 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.
5. Smith JS, Tachibana I, Allen C, Chiappa SA, Lee HK, McIver B, Jenkins RB, Raffel C (July 1999). "Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus". Genomics. 59 (1): 97–101. doi:10.1006/geno.1999.5864. PMID   10395805.
6. "Entrez Gene: RPH3AL rabphilin 3A-like (without C2 domains)".
7. Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (January 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology. 18 (1): 117–26. doi: 10.1210/me.2003-0300 . PMID   14593078.
8. Fukuda M (April 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80. doi: 10.1074/jbc.M212341200 . PMID   12578829.

Further reading

• Kotake K, Ozaki N, Mizuta M, Sekiya S, Inagaki N, Seino S (November 1997). "Noc2, a putative zinc finger protein involved in exocytosis in endocrine cells". The Journal of Biological Chemistry. 272 (47): 29407–10. doi: 10.1074/jbc.272.47.29407 . PMID   9367993.
• Fenster SD, Chung WJ, Zhai R, Cases-Langhoff C, Voss B, Garner AM, Kaempf U, Kindler S, Gundelfinger ED, Garner CC (January 2000). "Piccolo, a presynaptic zinc finger protein structurally related to bassoon". Neuron. 25 (1): 203–14. doi: 10.1016/S0896-6273(00)80883-1 . PMID   10707984. S2CID   10177138.
• Haynes LP, Evans GJ, Morgan A, Burgoyne RD (March 2001). "A direct inhibitory role for the Rab3-specific effector, Noc2, in Ca2+-regulated exocytosis in neuroendocrine cells". The Journal of Biological Chemistry. 276 (13): 9726–32. doi: 10.1074/jbc.M006959200 . PMID   11134008.
• Goi T, Takeuchi K, Katayama K, Hirose K, Yamaguchi A (2003). "Mutations of rabphillin-3A-like gene in colorectal cancers". Oncology Reports. 9 (6): 1189–92. doi:10.3892/or.9.6.1189. PMID   12375017.
• Milkereit P, Strauss D, Bassler J, Gadal O, Kühn H, Schütz S, Gas N, Lechner J, Hurt E, Tschochner H (February 2003). "A Noc complex specifically involved in the formation and nuclear export of ribosomal 40 S subunits". The Journal of Biological Chemistry. 278 (6): 4072–81. doi: 10.1074/jbc.M208898200 . PMID   12446671.
• Fukuda M (April 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80. doi: 10.1074/jbc.M212341200 . PMID   12578829.
• Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH (April 2003). "Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3". American Journal of Human Genetics. 72 (4): 918–30. doi:10.1086/374320. PMC   1180354 . PMID   12621583.
• Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (January 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology. 18 (1): 117–26. doi: 10.1210/me.2003-0300 . PMID   14593078.
• Manabe S, Nishimura N, Yamamoto Y, Kitamura H, Morimoto S, Imai M, Nagahiro S, Seino S, Sasaki T (March 2004). "Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells". Biochemical and Biophysical Research Communications. 316 (1): 218–25. doi:10.1016/j.bbrc.2004.02.026. PMID   15003533.
• Matsumoto M, Miki T, Shibasaki T, Kawaguchi M, Shinozaki H, Nio J, Saraya A, Koseki H, Miyazaki M, Iwanaga T, Seino S (June 2004). "Noc2 is essential in normal regulation of exocytosis in endocrine and exocrine cells". Proceedings of the National Academy of Sciences of the United States of America. 101 (22): 8313–8. Bibcode:2004PNAS..101.8313M. doi: 10.1073/pnas.0306709101 . PMC   420391 . PMID   15159548.
• Katkoori VR, Jia X, Chatla C, Kumar S, Ponnazhagan S, Callens T, Messiaen L, Grizzle WE, Manne U (January 2008). "Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma". Frontiers in Bioscience. 13 (1): 1050–61. doi:10.2741/2742. PMC   2667692 . PMID   17981610.