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)
End	386,254 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	75,829,255 bp
RNA expression pattern
	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
	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
	9501
	380714
	ENSG00000181031; ENSG00000262334; ENSG00000282013
	ENSMUSG00000020847
	Q9UNE2
	Q768S4
	NM_001190411; NM_001190412; NM_001190413; NM_006987
	NM_001291159; NM_029548
	NP_001177340; NP_001177341; NP_001177342; NP_008918
	NP_001278088; NP_083824
	Wikidata
View/Edit Human	View/Edit Mouse

Rab effector Noc2 is a protein that in humans is encoded by the RPH3AL gene.⁵⁶

Interactions

RPH3AL has been shown to interact with RAB27A.⁷⁸

References

ENSG00000262334, ENSG00000282013 GRCh38: Ensembl release 89: ENSG00000181031, ENSG00000262334, ENSG00000282013 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020847 – Ensembl, May 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.
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.
"Entrez Gene: RPH3AL rabphilin 3A-like (without C2 domains)".
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.
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.

[refGRCh38Ensembl-1] ENSG00000262334, ENSG00000282013 GRCh38: Ensembl release 89: ENSG00000181031, ENSG00000262334, ENSG00000282013 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10395805-5] 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.

[entrez-6] "Entrez Gene: RPH3AL rabphilin 3A-like (without C2 domains)".

[pmid14593078-7] 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.

[pmid12578829-8] 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.

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