NUFIP1 - nuclear FMR1 interacting protein 1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17636026	GOA
NOT enables DNA binding	IDA IDA: Inferred from direct assay	15107825	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	10556305	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17636026	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10556305	GOA
enables protein-macromolecule adaptor activity	IPI IPI: Inferred from physical interaction	17636026	GOA
contributes to snoRNA binding	IDA IDA: Inferred from direct assay	17636026	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in box C/D snoRNP assembly	IMP IMP: Inferred from mutant phenotype	17636026	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	15107825	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nuclear matrix	IDA IDA: Inferred from direct assay	12941608	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	12941608	GOA
located in perichromatin fibrils	IDA IDA: Inferred from direct assay	12941608	GOA
part of pre-snoRNP complex	IDA IDA: Inferred from direct assay	17636026	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	17636026	GOA
part of transcription elongation factor complex	IDA IDA: Inferred from direct assay	15107825	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUFIP1 Protein Structure

zf-C2H2_jaz

NUFIP1

0
100
200
300
400
495 a.a.

Protein Preferred Names

Protein Names

FMR1-interacting protein NUFIP1

NUFIP1, FMR1 interacting protein 1

NUFIP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	NUFIP1	Q9UHK0	Ruvbl1	Mus musculus	P60122	Pull Down	17636026
Intra	NUFIP1	Q9UHK0	ZNHIT6	Homo sapiens	Q9NWK9	Pull Down	17636026
Intra	NUFIP1	Q9UHK0	ZNHIT6	Homo sapiens	Q9NWK9	Anti Tag CoIP	33961781
Intra	NUFIP1	Q9UHK0	ZNHIT3	Homo sapiens	Q15649	Anti Bait CoIP	25170085
Intra	NUFIP1	Q9UHK0	ZNHIT3	Homo sapiens	Q15649	Anti Tag CoIP	33961781
Intra	NUFIP1	Q9UHK0	ZNHIT3	Homo sapiens	Q15649	Anti Tag CoIP	28514442
Intra	NUFIP1	Q9UHK0	NOP58	Homo sapiens	Q9Y2X3	Pull Down	17636026
Intra	NUFIP1	Q9UHK0	SNU13	Homo sapiens	P55769	Pull Down	17636026

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Pre-designed Sets	/	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

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