NUFIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | NUFIP1 , NUFIP, bA540M5.1, FMR1 interacting protein 1, nuclear FMR1 interacting protein 1, Rsa1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 604354 MGI: 1351474 HomoloGene: 8216 GeneCards: NUFIP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Nuclear fragile X mental retardation-interacting protein 1 is a protein that in humans is encoded by the NUFIP1 gene. [5] [6] [7]
NUFIP1 has been shown to interact with:
FMR1 is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits. The FMR1 premutation is associated with a wide spectrum of clinical phenotypes that affect more than two million people worldwide.
ABCD1 is a protein that transfers fatty acids into peroxisomes.
Cyclin-dependent kinase 9 or CDK9 is a cyclin-dependent kinase associated with P-TEFb.
Cyclin-T1 is a protein that in humans is encoded by the CCNT1 gene.
Rab GDP dissociation inhibitor alpha is a protein that in humans is encoded by the GDI1 gene.
Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells.
Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.
Cytoplasmic FMR1-interacting protein 2 is a protein that in humans is encoded by the CYFIP2 gene. Cytoplasmic FMR1 interacting protein is a 1253 amino acid long protein and is highly conserved sharing 99% sequence identity to the mouse protein. It is expressed mainly in brain tissues, white blood cells and the kidney.
Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene.
AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene. Mutations in AFF2 are implicated in cases of breast cancer.
Homeobox protein SIX5 is a protein that in humans is encoded by the SIX5 gene.
Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene. KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.
CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.
X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1 gene. IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.
Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene.
Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.
Nuclear fragile X mental retardation-interacting protein 2 is a protein that in humans is encoded by the NUFIP2 gene.
KIAA1704, also known as LSR7, is a protein that in humans is encoded by the GPALPP1 gene. The function of KIAA1704 is not yet well understood. KIAA1704 contains one domain of unknown function, DUF3752. The protein contains a conserved, uncharged, repeated motif GPALPP(GF) near the N terminus and an unusual, conserved, mixed charge throughout. It is predicted to be localized to the nucleus.
Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.
David L. Nelson is an American human geneticist, currently an associate director at the Intellectual and Developmental Disabilities Research Center (1995), and professor at the Department of Molecular and Human Genetics at Baylor College of Medicine BCM since 1999. Since 2018, he is the director at the Cancer and Cell Biology Ph.D program, and the director of Integrative Molecular and Biomedical Sciences Ph.D since 2015 at BCM.