NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 [Homo sapiens] - Gene

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Summary

Official Symbol: NUFIP1provided by HGNC
Official Full Name: nuclear fragile X mental retardation protein interacting protein 1provided by HGNC
Primary source: HGNC:8057
See related: Ensembl:ENSG00000083635; HPRD:05073; MIM:604354; Vega:OTTHUMG00000016842
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NUFIP; bA540M5.1
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]

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Genomic context

Location :: 13q14

Sequence :: Chromosome: 13; NC_000013.10 (45513384..45563613, complement)

See NUFIP1 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
NUFIP is associated with preinitiation complexes, open transcription complexes, and elongation complexes and facilitates ATP-dependent dissociation of hyperphosphorylated pol II from open transcription complexes in vitro
Title: BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_036477.1	NP_009227.1	BRCA1	BIND	PubMed	BRCA1 interacts with NUFIP.
NP_036477.1	NP_001231.2	CCNT1	BIND	PubMed	CyclinT1 interacts with NUFIP.
Q9UHK0	P38398	BRCA1	HPRD	PubMed
Q9UHK0	O60563	CCNT1	HPRD	PubMed
Q9UHK0	Q06787	FMR1	HPRD	PubMed
BioGRID:117807	BioGRID:107140	BRCA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:117807	BioGRID:107343	CCNT1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:117807	BioGRID:107459	CDK9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:117807	BioGRID:108619	FMR1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:117807	BioGRID:107711	KLF6	BioGRID	PubMed	Reconstituted Complex
BioGRID:117807	BioGRID:203509	Nhp2l1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:117807	BioGRID:114166	RUVBL1	BioGRID	PubMed	Reconstituted Complex
BioGRID:117807	BioGRID:116067	RUVBL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:117807	BioGRID:112743	TAF9	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
DNA binding	NAS Non-traceable Author Statement more info	PubMed
RNA binding	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding, bridging	IPI Inferred from Physical Interaction more info	PubMed
contributes_to snoRNA binding	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
RNA processing	TAS Traceable Author Statement more info	PubMed
box C/D snoRNP assembly	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
intracellular	IEA Inferred from Electronic Annotation more info
nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
perichromatin fibrils	IDA Inferred from Direct Assay more info	PubMed
pre-snoRNP complex	IDA Inferred from Direct Assay more info	PubMed
presynaptic active zone	IDA Inferred from Direct Assay more info	PubMed
transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: nuclear fragile X mental retardation-interacting protein 1

Names: nuclear fragile X mental retardation-interacting protein 1; nuclear FMRP-interacting protein 1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032080.1 RefSeqGene

Range

5001..55230

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012345.2 → NP_036477.2 nuclear fragile X mental retardation-interacting protein 1

Status: REVIEWED

Source sequence(s)

AF159548, AL354816, DA701559

Consensus CDS

CCDS9393.1

UniProtKB/Swiss-Prot

Q9UHK0

Related

ENSP00000368459, OTTHUMP00000018342, ENST00000379161, OTTHUMT00000044755

Conserved Domains (1) summary

pfam10453
Location:212 – 253
Blast Score: 164

NUFIP1; Nuclear fragile X mental retardation-interacting protein 1 (NUFIP1)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

45513384..45563613, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

26315238..26365485, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL354816.5	CAC40689.2
genomic	AL359706.18	CAI12865.1
genomic	CH471075.1	EAX08719.1
mRNA	AF159548.1	AAF15315.1
mRNA	AK314242.1	None
mRNA	BC001436.1	None
mRNA	BC017745.1	AAH17745.1
mRNA	DA701559.1	None