FNIP1

FNIP1
Identifiers
Aliases	FNIP1, folliculin interacting protein 1, IMD93
External IDs	OMIM: 610594; MGI: 2444668; HomoloGene: 28173; GeneCards: FNIP1; OMA:FNIP1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	131,797,017 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	54,409,061 bp
RNA expression pattern
	Top expressed in
	cardiac muscle tissue of right atrium; ; myocardium of left ventricle; ; synovial membrane; ; Skeletal muscle tissue of rectus abdominis; ; corpus callosum; ; pancreatic epithelial cell; ; vastus lateralis muscle; ; pancreatic ductal cell; ; deltoid muscle; ; Achilles tendon;
	Top expressed in
	intercostal muscle; ; soleus muscle; ; myocardium of ventricle; ; iris; ; spermatocyte; ; calvaria; ; stroma of bone marrow; ; gastrocnemius muscle; ; lobe of cerebellum; ; Region I of hippocampus proper;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; guanyl-nucleotide exchange factor activity; ATPase inhibitor activity; chaperone binding;
Cellular component	cytoplasm;
Biological process	regulation of protein phosphorylation; regulation of pro-B cell differentiation; cellular response to starvation; negative regulation of TOR signaling; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of protein phosphorylation; negative regulation of transcription by RNA polymerase II; TOR signaling; positive regulation of B cell apoptotic process; positive regulation of protein-containing complex assembly; immature B cell differentiation; positive regulation of peptidyl-serine phosphorylation; mitochondrion organization; TORC1 signaling; negative regulation of mitochondrion organization; negative regulation of TORC1 signaling;
	Sources:Amigo / QuickGO
Orthologs
	96459
	216742
	ENSG00000217128
	ENSMUSG00000035992
	Q8TF40
	Q68FD7
	NM_133372; NM_001008738; NM_001346113; NM_001346114
	NM_173753
	NP_001008738; NP_001333042; NP_001333043; NP_588613
	NP_776114
	Wikidata
View/Edit Human	View/Edit Mouse

Folliculin interacting protein 1 is a protein that in humans is encoded by the FNIP1 gene. ^[5]

Mutation of FNIP1 in mice causes a deficiency of B cells, and cardiomyopathy, with FNIP1 thought to act as a negative regulator of AMPK.^[6]^[7]^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000217128 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035992 – 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.
^ "Entrez Gene: Folliculin interacting protein 1". Retrieved 2016-03-07.
^ Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ (June 2016). "Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity". Proceedings of the National Academy of Sciences of the United States of America. 113 (26): E3706-15. doi:10.1073/pnas.1607592113. PMC 4932993. PMID 27303042.
^ Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R (August 2012). "The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development". Blood. 120 (6): 1254–61. doi:10.1182/blood-2012-02-410407. PMC 3418720. PMID 22709692.
^ Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G, Iritani BM (May 2012). "Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development". Immunity. 36 (5): 769–81. doi:10.1016/j.immuni.2012.02.019. PMC 3361584. PMID 22608497.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000217128 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035992 – 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.

[entrez-5] "Entrez Gene: Folliculin interacting protein 1". Retrieved 2016-03-07.

[pmid27303042-6] Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ (June 2016). "Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity". Proceedings of the National Academy of Sciences of the United States of America. 113 (26): E3706-15. doi:10.1073/pnas.1607592113. PMC 4932993. PMID 27303042.

[pmid22709692-7] Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R (August 2012). "The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development". Blood. 120 (6): 1254–61. doi:10.1182/blood-2012-02-410407. PMC 3418720. PMID 22709692.

[pmid22608497-8] Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G, Iritani BM (May 2012). "Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development". Immunity. 36 (5): 769–81. doi:10.1016/j.immuni.2012.02.019. PMC 3361584. PMID 22608497.

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