Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26747
Gene name	Nuclear FMR1 interacting protein 1
Gene symbol	NUFIP1
Synonyms (NCBI Gene)	NUFIPRsa1bA540M5.1
Chromosome	13
Chromosome location	13q14.12
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 associatio

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024863	hsa-miR-215-5p	Microarray	19074876
MIRT026907	hsa-miR-192-5p	Microarray	19074876
MIRT740178	hsa-miR-1238	CLIP-seq
MIRT1198402	hsa-miR-124	CLIP-seq
MIRT740176	hsa-miR-3605-5p	CLIP-seq
MIRT740175	hsa-miR-3682-3p	CLIP-seq
MIRT1198403	hsa-miR-3714	CLIP-seq
MIRT1198404	hsa-miR-3910	CLIP-seq
MIRT740177	hsa-miR-4637	CLIP-seq
MIRT1198405	hsa-miR-4712-3p	CLIP-seq
MIRT1198406	hsa-miR-506	CLIP-seq
MIRT1198407	hsa-miR-539	CLIP-seq
MIRT1198408	hsa-miR-548a-5p	CLIP-seq
MIRT1198409	hsa-miR-548ab	CLIP-seq
MIRT1198410	hsa-miR-548ak	CLIP-seq
MIRT1198411	hsa-miR-548b-5p	CLIP-seq
MIRT1198412	hsa-miR-548c-5p	CLIP-seq
MIRT1198413	hsa-miR-548d-5p	CLIP-seq
MIRT1198414	hsa-miR-548h	CLIP-seq
MIRT1198415	hsa-miR-548i	CLIP-seq
MIRT1198416	hsa-miR-548j	CLIP-seq
MIRT1198417	hsa-miR-548k	CLIP-seq
MIRT1198418	hsa-miR-548l	CLIP-seq
MIRT1198419	hsa-miR-548n	CLIP-seq
MIRT1198420	hsa-miR-548w	CLIP-seq
MIRT1198421	hsa-miR-548y	CLIP-seq
MIRT1198422	hsa-miR-559	CLIP-seq
MIRT740178	hsa-miR-1238	CLIP-seq
MIRT2057467	hsa-miR-28-3p	CLIP-seq
MIRT740176	hsa-miR-3605-5p	CLIP-seq
MIRT740175	hsa-miR-3682-3p	CLIP-seq
MIRT740177	hsa-miR-4637	CLIP-seq
MIRT2057468	hsa-miR-4709-5p	CLIP-seq
MIRT2057469	hsa-miR-520d-5p	CLIP-seq
MIRT2057470	hsa-miR-524-5p	CLIP-seq
MIRT740178	hsa-miR-1238	CLIP-seq
MIRT740176	hsa-miR-3605-5p	CLIP-seq
MIRT740175	hsa-miR-3682-3p	CLIP-seq
MIRT2285904	hsa-miR-421	CLIP-seq
MIRT2285905	hsa-miR-4433	CLIP-seq
MIRT740177	hsa-miR-4637	CLIP-seq
MIRT2057468	hsa-miR-4709-5p	CLIP-seq
MIRT2285906	hsa-miR-4717-3p	CLIP-seq
MIRT2285907	hsa-miR-4744	CLIP-seq
MIRT2057469	hsa-miR-520d-5p	CLIP-seq
MIRT2057470	hsa-miR-524-5p	CLIP-seq
MIRT2285908	hsa-miR-548c-3p	CLIP-seq
MIRT2285909	hsa-miR-548u	CLIP-seq
MIRT2285910	hsa-miR-659	CLIP-seq
MIRT2285911	hsa-miR-935	CLIP-seq
MIRT740178	hsa-miR-1238	CLIP-seq
MIRT740176	hsa-miR-3605-5p	CLIP-seq
MIRT740175	hsa-miR-3682-3p	CLIP-seq
MIRT740177	hsa-miR-4637	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000492	Process	Box C/D snoRNP assembly	IBA
GO:0000492	Process	Box C/D snoRNP assembly	IMP	17636026
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IDA	15107825
GO:0003723	Function	RNA binding	IDA	10556305
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10556305, 15107825, 17636026, 25170085, 26496610, 28335020, 28514442, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005726	Component	Perichromatin fibrils	IDA	12941608
GO:0005730	Component	Nucleolus	IDA	12941608
GO:0006396	Process	RNA processing	TAS	10556305
GO:0008023	Component	Transcription elongation factor complex	IDA	15107825
GO:0008270	Function	Zinc ion binding	IEA
GO:0016363	Component	Nuclear matrix	IDA	12941608
GO:0030515	Function	SnoRNA binding	IDA	17636026
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	17636026
GO:0032991	Component	Protein-containing complex	IDA	17636026
GO:0042802	Function	Identical protein binding	IPI	17636026
GO:0045202	Component	Synapse	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15107825
GO:0046872	Function	Metal ion binding	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	ISS	12941608
GO:0051117	Function	ATPase binding	IPI	17636026
GO:0070761	Component	Pre-snoRNP complex	IDA	17636026

MIM	HGNC	e!Ensembl
604354	8057	ENSG00000083635

Q9UHK0

Protein name

FMR1-interacting protein NUFIP1 (Nuclear FMR1-interacting protein 1) (Nuclear FMRP-interacting protein 1)

Protein function

Binds RNA.

PDB

5L85

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12171	zf-C2H2_jaz	173 → 197	Zinc-finger double-stranded RNA-binding	Family
PF10453	NUFIP1	215 → 268	Nuclear fragile X mental retardation-interacting protein 1 (NUFIP1)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocyte, heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. {ECO:0000269|PubMed:10556305}.

Sequence

MAEPTSDFETPIGWHASPELTPTLGPLSDTAPPRDSWMFWAMLPPPPPPLTSSLPAAGSK
PSSESQPPMEAQSLPGAPPPFDAQILPGAQPPFDAQSPLDSQPQPSGQPWNFHASTSWYW
RQSSDRFPRHQKSFNPAVKNSYYPRKYDAKFTDFSLPPSRKQKKKKRKEPVFHFFCDTCD
RGFKNQEKYDKHMSEHTKCPELDCSFTAHEKIVQFHWRNMHAPGMKKIKLDTPEEIARWR
EERRKNYPTLANIERKKKLKLEKEKRGAVLTTTQYGKMKGMSRHSQMAKIRSPGKNHKWK
NDNSRQRAVTGSGSHLCDLKLEGPPEANADPLGVLINSDSESDKEEKPQHSVIPKEVTPA
LCSLMSSYGSLSGSESEPEETPIKTEADVLAENQVLDSSAPKSPSQDVKATVRNFSEAKS
ENRKKSFEKTNPKRKKDYHNYQTLFEPRTHHPYLLEMLLAPDIRHERNVILQCVRYIIKK
DFFGLDTNSAKSKDV

Sequence length

495

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	21505449	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Associate	19264558	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Associate	23300848	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	23300848	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Associate	21505449	★★★★★ ★☆☆☆☆ Found in Text Mining only

NUFIP1 (nuclear FMR1 interacting protein 1)