FNIP1

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

FNIP1
Identifiers
Aliases	FNIP1, folliculin interacting protein 1
External IDs	OMIM: 610594 MGI: 2444668 HomoloGene: 28173 GeneCards: FNIP1
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.1 Start 131,641,714 bp[1] End 131,797,063 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B1.3 Start 54,438,199 bp[2] End 54,518,235 bp[2]
Gene ontology Molecular function • GO:0001948 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 from RNA polymerase II promoter • TOR signaling • positive regulation of B cell apoptotic process • positive regulation of protein 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
Species	Human	Mouse
Entrez	96459	216742
Ensembl	ENSG00000217128	ENSMUSG00000035992
UniProt	Q8TF40	Q68FD7
RefSeq (mRNA)	NM_133372 NM_001008738 NM_001346113 NM_001346114	NM_173753
RefSeq (protein)	NP_001008738 NP_001333042 NP_001333043 NP_588613	NP_776114
Location (UCSC)	Chr 5: 131.64 – 131.8 Mb	Chr 11: 54.44 – 54.52 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000217128 - Ensembl, May 2017
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.
5. "Entrez Gene: Folliculin interacting protein 1". Retrieved 2016-03-07.
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.
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.
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.