NUFIP1

Last updated
NUFIP1
Identifiers
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012345

NM_013745

RefSeq (protein)

NP_036477

NP_038773

Location (UCSC) Chr 13: 44.94 – 44.99 Mb Chr 14: 76.35 – 76.37 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Nuclear fragile X mental retardation-interacting protein 1 is a protein that in humans is encoded by the NUFIP1 gene. [5] [6] [7]

Contents

Interactions

NUFIP1 has been shown to interact with:

Related Research Articles

<span class="mw-page-title-main">FMR1</span> Human protein and coding gene

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.

<span class="mw-page-title-main">ABCD1</span> Protein-coding gene in humans

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<span class="mw-page-title-main">Cyclin-dependent kinase 9</span> Protein-coding gene in the species Homo sapiens

Cyclin-dependent kinase 9 or CDK9 is a cyclin-dependent kinase associated with P-TEFb.

<span class="mw-page-title-main">Cyclin T1</span> Protein-coding gene in humans

Cyclin-T1 is a protein that in humans is encoded by the CCNT1 gene.

<span class="mw-page-title-main">GDI1</span> Protein-coding gene in humans

Rab GDP dissociation inhibitor alpha is a protein that in humans is encoded by the GDI1 gene.

<span class="mw-page-title-main">FANCA</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">FXR1</span> Protein-coding gene in the species Homo sapiens

Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.

<span class="mw-page-title-main">CYFIP2</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">FXR2</span> Protein-coding gene in the species Homo sapiens

Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene.

<span class="mw-page-title-main">AFF2</span> Protein-coding gene in humans

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.

<span class="mw-page-title-main">SIX5</span> Protein-coding gene in the species Homo sapiens

Homeobox protein SIX5 is a protein that in humans is encoded by the SIX5 gene.

<span class="mw-page-title-main">KDM5C</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">CGGBP1</span> Protein-coding gene in the species Homo sapiens

CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.

<span class="mw-page-title-main">IL1RAPL1</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">CYFIP1</span> Protein-coding gene in the species Homo sapiens

Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene.

<span class="mw-page-title-main">SOX8</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.

<span class="mw-page-title-main">NUFIP2</span> Protein-coding gene in the species Homo sapiens

Nuclear fragile X mental retardation-interacting protein 2 is a protein that in humans is encoded by the NUFIP2 gene.

<span class="mw-page-title-main">KIAA1704</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">Jean-Louis Mandel</span>

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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000083635 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022009 - 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. 1 2 Bardoni B, Schenck A, Mandel JL (Jan 2000). "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein". Hum Mol Genet. 8 (13): 2557–66. doi: 10.1093/hmg/8.13.2557 . PMID   10556305.
  6. Bardoni B, Giglio S, Schenck A, Rocchi M, Mandel JL (Aug 2000). "Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12". Cytogenet Cell Genet. 89 (1–2): 11–3. doi:10.1159/000015580. PMID   10894927. S2CID   38381172.
  7. "Entrez Gene: NUFIP1 nuclear fragile X mental retardation protein interacting protein 1".
  8. 1 2 Cabart P, Chew HK, Murphy S (Jul 2004). "BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II". Oncogene. 23 (31): 5316–29. doi:10.1038/sj.onc.1207684. PMID   15107825. S2CID   1338899.
  9. Bardoni B, Castets M, Huot ME, Schenck A, Adinolfi S, Corbin F, Pastore A, Khandjian EW, Mandel JL (Jul 2003). "82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum. Mol. Genet. 12 (14): 1689–98. doi: 10.1093/hmg/ddg181 . PMID   12837692.

Further reading