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	4857
Gene name	NOVA alternative splicing regulator 1
Gene symbol	NOVA1
Synonyms (NCBI Gene)	Nova-1
Chromosome	14
Chromosome location	14q12
Summary	This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic

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Show/Hide all (116)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003039	hsa-miR-338-3p	qRT-PCRWestern blot	18684991
MIRT003039	hsa-miR-338-3p	qRT-PCRWestern blot	18684991
MIRT003039	hsa-miR-338-3p	qRT-PCRWestern blot	18684991
MIRT003039	hsa-miR-338-3p	qRT-PCRWestern blot	18684991
MIRT018192	hsa-miR-335-5p	Microarray	18185580
MIRT020856	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT731858	hsa-miR-339-5p	Luciferase reporter assayqRT-PCRWestern blot	26391641
MIRT731858	hsa-miR-339-5p	Luciferase reporter assayqRT-PCRWestern blot	26391641
MIRT731858	hsa-miR-339-5p	Luciferase reporter assayqRT-PCRWestern blot	26391641
MIRT1190215	hsa-miR-1292	CLIP-seq
MIRT1190216	hsa-miR-193a-5p	CLIP-seq
MIRT1190217	hsa-miR-3147	CLIP-seq
MIRT1190218	hsa-miR-3179	CLIP-seq
MIRT1190219	hsa-miR-3190	CLIP-seq
MIRT1190220	hsa-miR-3202	CLIP-seq
MIRT1190221	hsa-miR-3973	CLIP-seq
MIRT1190222	hsa-miR-3976	CLIP-seq
MIRT1190223	hsa-miR-4271	CLIP-seq
MIRT1190224	hsa-miR-4425	CLIP-seq
MIRT1190225	hsa-miR-4471	CLIP-seq
MIRT1190226	hsa-miR-4533	CLIP-seq
MIRT1190227	hsa-miR-4645-3p	CLIP-seq
MIRT1190228	hsa-miR-4725-3p	CLIP-seq
MIRT1190229	hsa-miR-4731-3p	CLIP-seq
MIRT1190230	hsa-miR-4747-5p	CLIP-seq
MIRT1190231	hsa-miR-4772-5p	CLIP-seq
MIRT1190232	hsa-miR-4789-5p	CLIP-seq
MIRT1190233	hsa-miR-4801	CLIP-seq
MIRT1190234	hsa-miR-548l	CLIP-seq
MIRT1190235	hsa-miR-635	CLIP-seq
MIRT1190236	hsa-miR-873	CLIP-seq
MIRT1190237	hsa-miR-1178	CLIP-seq
MIRT1190238	hsa-miR-1245b-3p	CLIP-seq
MIRT1190239	hsa-miR-30a	CLIP-seq
MIRT1190240	hsa-miR-30b	CLIP-seq
MIRT1190241	hsa-miR-30c	CLIP-seq
MIRT1190242	hsa-miR-30d	CLIP-seq
MIRT1190243	hsa-miR-30e	CLIP-seq
MIRT1190244	hsa-miR-3157-5p	CLIP-seq
MIRT1190218	hsa-miR-3179	CLIP-seq
MIRT1190219	hsa-miR-3190	CLIP-seq
MIRT1190220	hsa-miR-3202	CLIP-seq
MIRT1190245	hsa-miR-3607-3p	CLIP-seq
MIRT1190246	hsa-miR-3686	CLIP-seq
MIRT1190223	hsa-miR-4271	CLIP-seq
MIRT1190226	hsa-miR-4533	CLIP-seq
MIRT1190247	hsa-miR-4691-3p	CLIP-seq
MIRT1190228	hsa-miR-4725-3p	CLIP-seq
MIRT1190230	hsa-miR-4747-5p	CLIP-seq
MIRT1190248	hsa-miR-4760-3p	CLIP-seq
MIRT1190231	hsa-miR-4772-5p	CLIP-seq
MIRT1190236	hsa-miR-873	CLIP-seq
MIRT2055094	hsa-miR-582-5p	CLIP-seq
MIRT2284035	hsa-miR-1207-5p	CLIP-seq
MIRT2284036	hsa-miR-2681	CLIP-seq
MIRT2284037	hsa-miR-3662	CLIP-seq
MIRT2284038	hsa-miR-3941	CLIP-seq
MIRT1190221	hsa-miR-3973	CLIP-seq
MIRT2284039	hsa-miR-4300	CLIP-seq
MIRT2284040	hsa-miR-4432	CLIP-seq
MIRT2284041	hsa-miR-4490	CLIP-seq
MIRT2284042	hsa-miR-466	CLIP-seq
MIRT2284043	hsa-miR-4672	CLIP-seq
MIRT2284044	hsa-miR-4736	CLIP-seq
MIRT2284045	hsa-miR-4763-3p	CLIP-seq
MIRT1190232	hsa-miR-4789-5p	CLIP-seq
MIRT2284046	hsa-miR-4797-5p	CLIP-seq
MIRT2284047	hsa-miR-544	CLIP-seq
MIRT2284048	hsa-miR-548u	CLIP-seq
MIRT2284049	hsa-miR-548v	CLIP-seq
MIRT2284050	hsa-miR-920	CLIP-seq
MIRT2582149	hsa-miR-1244	CLIP-seq
MIRT2582150	hsa-miR-132	CLIP-seq
MIRT2582151	hsa-miR-199a-3p	CLIP-seq
MIRT2582152	hsa-miR-199b-3p	CLIP-seq
MIRT2582153	hsa-miR-200b	CLIP-seq
MIRT2582154	hsa-miR-200c	CLIP-seq
MIRT2582155	hsa-miR-204	CLIP-seq
MIRT2582156	hsa-miR-211	CLIP-seq
MIRT2582157	hsa-miR-212	CLIP-seq
MIRT2582158	hsa-miR-3121-3p	CLIP-seq
MIRT2582159	hsa-miR-3129-3p	CLIP-seq
MIRT2582160	hsa-miR-3129-5p	CLIP-seq
MIRT2582161	hsa-miR-3591-5p	CLIP-seq
MIRT2582162	hsa-miR-3938	CLIP-seq
MIRT2284038	hsa-miR-3941	CLIP-seq
MIRT2582163	hsa-miR-4255	CLIP-seq
MIRT2582164	hsa-miR-429	CLIP-seq
MIRT2582165	hsa-miR-4523	CLIP-seq
MIRT2284042	hsa-miR-466	CLIP-seq
MIRT2582166	hsa-miR-4668-3p	CLIP-seq
MIRT2284043	hsa-miR-4672	CLIP-seq
MIRT2582167	hsa-miR-4714-3p	CLIP-seq
MIRT2582168	hsa-miR-4724-5p	CLIP-seq
MIRT2582169	hsa-miR-4729	CLIP-seq
MIRT2582170	hsa-miR-4753-3p	CLIP-seq
MIRT2582171	hsa-miR-4755-5p	CLIP-seq
MIRT2582172	hsa-miR-4768-5p	CLIP-seq
MIRT2582173	hsa-miR-4775	CLIP-seq
MIRT2284046	hsa-miR-4797-5p	CLIP-seq
MIRT2582174	hsa-miR-496	CLIP-seq
MIRT2582175	hsa-miR-548c-3p	CLIP-seq
MIRT2284049	hsa-miR-548v	CLIP-seq
MIRT2582176	hsa-miR-579	CLIP-seq
MIRT2582177	hsa-miR-623	CLIP-seq
MIRT2582178	hsa-miR-888	CLIP-seq
MIRT2582158	hsa-miR-3121-3p	CLIP-seq
MIRT2284038	hsa-miR-3941	CLIP-seq
MIRT2284042	hsa-miR-466	CLIP-seq
MIRT2284043	hsa-miR-4672	CLIP-seq
MIRT2582169	hsa-miR-4729	CLIP-seq
MIRT2582170	hsa-miR-4753-3p	CLIP-seq
MIRT2582172	hsa-miR-4768-5p	CLIP-seq
MIRT2284046	hsa-miR-4797-5p	CLIP-seq
MIRT2284049	hsa-miR-548v	CLIP-seq
MIRT2582176	hsa-miR-579	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	ISS
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0003729	Function	MRNA binding	ISS
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	27733149, 30853821
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0006396	Process	RNA processing	TAS	8398153
GO:0006397	Process	MRNA processing	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	8398153
GO:0051252	Process	Regulation of RNA metabolic process	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	27635635
GO:1990825	Function	Sequence-specific mRNA binding	IDA	10811881
GO:1990825	Function	Sequence-specific mRNA binding	IEA
GO:1990825	Function	Sequence-specific mRNA binding	ISS

MIM	HGNC	e!Ensembl
602157	7886	ENSG00000139910

P51513

Protein name

RNA-binding protein Nova-1 (Neuro-oncological ventral antigen 1) (Onconeural ventral antigen 1) (Paraneoplastic Ri antigen) (Ventral neuron-specific protein 1)

Protein function

Functions to regulate alternative splicing in neurons by binding pre-mRNA in a sequence-specific manner to activate exon inclusion or exclusion. It binds specifically to the sequences 5'-YCAY-3' and regulates splicing in only a subset of regulat

PDB

1DT4 , 2ANN , 2ANR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00013	KH_1	52 → 118	KH domain	Domain
PF00013	KH_1	173 → 239	KH domain	Domain
PF00013	KH_1	423 → 490	KH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in cerebellum, brain stem, hippocampus, and frontal cortex. {ECO:0000269|PubMed:8398153}.

Sequence

MMAAAPIQQNGTHTGVPIDLDPPDSRKRPLEAPPEAGSTKRTNTGEDGQYFLKVLIPSYA
AGSIIGKGGQTIVQLQKETGATIKLSKSKDFYPGTTERVCLIQGTVEALNAVHGFIAEKI
REMPQNVAKTEPVSILQPQTTVNPDRIKQTLPSSPTTTKSSPSDPMTTSRANQVKIIVPN
STAGLIIGKGGATVKAVMEQSGAWVQLSQKPDGINLQERVVTVSGEPEQNRKAVELIIQK
IQEDPQSGSCLNISYANVTGPVANSNPTGSPYANTAEVLPTAAAAAGLLGHANLAGVAAF
PAVLSGFTGNDLVAITSALNTLASYGYNLNTLGLGLSQAAATGALAAAAASANPAAAAAN
LLATYASEASASGSTAGGTAGTFALGSLAAATAATNGYFGAASPLAASAILGTEKSTDGS
KDVVEIAVPENLVGAILGKGGKTLVEYQELTGARIQISKKGEFVPGTRNRKVTITGTPAA
TQAAQYLITQRITYEQGVRAANPQKVG

Sequence length

507

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 (6)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	37887320	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Associate	25299073, 26108672	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	38416679	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Associate	10368286	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	31298381, 32101070	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	30696738, 36284263	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Associate	38049848	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	24608171, 34288818	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	35852380, 36284263	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	24553397, 28276498, 33203797	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Associate	38041124	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia Familial	Associate	27483351	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	38167429, 38416679	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	35832652, 38416679	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Stimulate	31375778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Inhibit	37887320	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	35852380	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	36284263	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Stimulate	29498217	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Residual	Associate	26673617	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	24608171, 25119594, 29498217, 30568224, 33215417, 38049848, 38416679, 39639242	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	31375778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	31382054	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Associate	26108672	★★★★★ ★☆☆☆☆ Found in Text Mining only
Opsoclonus Myoclonus Syndrome	Associate	10368286, 24608171, 38416679	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	33340248, 33760207	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	31382054	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	31375778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	26673617, 35578189	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	32317088	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervicitis	Associate	30696738	★★★★★ ★☆☆☆☆ Found in Text Mining only

NOVA1 (NOVA alternative splicing regulator 1)