2. Gene
  3. NUFIP1 - nuclear FMR1 interacting protein 1 Gene

NUFIP1 - nuclear FMR1 interacting protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as Rsa1; NUFIP; bA540M5.1

Gene ID: 26747 | Gene type: protein coding

About NUFIP1

Cytogenetic location: 13q14.12 Genomic coordinates (GRCh38): 13:44,939,249-44,989,471 (from NCBI)

This gene has 1 transcript (splice variant) and 195 orthologues. Ubiquitous expression in testis (RPKM 3.6), brain (RPKM 2.9) and 25 other tissues.

Summary

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

NUFIP1 Products(1)

mRNA Protein Name
NM_012345.3 NP_036477.2 FMR1-interacting protein NUFIP1

NUFIP1 Protein Structure

zf-C2H2_jaz

zf-C2H2_jaz: Zinc-finger double-stranded RNA-binding (174 - 195)

NUFIP1

NUFIP1: Nuclear fragile X mental retardation-interacting protein 1 (NUFIP1) (213 - 268)

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  • 495 a.a.
Protein Preferred Names Protein Names

FMR1-interacting protein NUFIP1

NUFIP1, FMR1 interacting protein 1

Related Diseases

Diseases Alias
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09677 NUFIP1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus NUFIP1 VGNC VGNC:68593
Bos taurus NUFIP1 VGNC VGNC:32345
Canis familiaris NUFIP1 VGNC VGNC:44039
Mus musculus NUFIP1 MGD MGI:1351474
Macaca mulatta NUFIP1 VGNC VGNC:106279
Rattus norvegicus NUFIP1 RGD RGD:1359440