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NOVA1 NOVA alternative splicing regulator 1 [ Homo sapiens (human) ]

Gene ID: 4857, updated on 10-Oct-2019

Summary

Official Symbol
NOVA1provided by HGNC
Official Full Name
NOVA alternative splicing regulator 1provided by HGNC
Primary source
HGNC:HGNC:7886
See related
Ensembl:ENSG00000139910 MIM:602157
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
Nova-1
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 opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 10.5), fat (RPKM 4.3) and 12 other tissues See more
Orthologs

Genomic context

See NOVA1 in Genome Data Viewer
Location:
14q12
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (26443090..26598033, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (26915089..27067239, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cytochrome b5 type A pseudogene 5 Neighboring gene uncharacterized LOC105370418 Neighboring gene long intergenic non-protein coding RNA 2588 Neighboring gene long intergenic non-protein coding RNA 2294 Neighboring gene long intergenic non-protein coding RNA 2293

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
NHGRI GWA Catalog
GWAS identifies four novel eosinophilic esophagitis loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
mRNA 3'-UTR binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA processing TAS
Traceable Author Statement
more info
PubMed 
RNA splicing TAS
Traceable Author Statement
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
locomotory behavior TAS
Traceable Author Statement
more info
PubMed 
mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of RNA metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RNA-binding protein Nova-1
Names
neuro-oncological ventral antigen 1
onconeural ventral antigen 1
paraneoplastic Ri antigen
ventral neuron-specific protein 1

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.

mRNA and Protein(s)

  1. NM_001366390.2NP_001353319.1  RNA-binding protein Nova-1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:277342
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:2792
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  2. NM_001366391.2NP_001353320.1  RNA-binding protein Nova-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:301366
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:51116
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  3. NM_001366392.2NP_001353321.1  RNA-binding protein Nova-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:422487
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:172237
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  4. NM_001366393.1NP_001353322.1  RNA-binding protein Nova-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:386451
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:136201
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  5. NM_001366394.1NP_001353323.1  RNA-binding protein Nova-1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:362427
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:112177
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  6. NM_001366395.1NP_001353324.1  RNA-binding protein Nova-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:301366
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:51116
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  7. NM_001366396.1NP_001353325.1  RNA-binding protein Nova-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:301366
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:51116
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  8. NM_001366397.1NP_001353326.1  RNA-binding protein Nova-1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL079343, AL132716
    Conserved Domains (2) summary
    cd00105
    Location:277342
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:2792
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  9. NM_001366398.1NP_001353327.1  RNA-binding protein Nova-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL132716
    Conserved Domains (2) summary
    cd00105
    Location:301366
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:51116
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  10. NM_002515.3NP_002506.2  RNA-binding protein Nova-1 isoform 1

    See identical proteins and their annotated locations for NP_002506.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI569678, AL079343, AL132716, BE762927, BX431656, CN409914, R60636, U04840
    Consensus CDS
    CCDS32061.1
    UniProtKB/Swiss-Prot
    P51513
    Related
    ENSP00000438875.2, ENST00000539517.7
    Conserved Domains (2) summary
    cd00105
    Location:423488
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:173238
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  11. NM_006489.3NP_006480.2  RNA-binding protein Nova-1 isoform 2

    See identical proteins and their annotated locations for NP_006480.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AI569678, AL079343, AL132716, BE762927, BX431656, CN409914, R60636, U04840
    Consensus CDS
    CCDS32060.1
    UniProtKB/Swiss-Prot
    P51513
    Related
    ENSP00000447391.1, ENST00000465357.6
    Conserved Domains (2) summary
    cd00105
    Location:399464
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:149214
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
  12. NM_006491.2NP_006482.1  RNA-binding protein Nova-1 isoform 3

    See identical proteins and their annotated locations for NP_006482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, and differs in the 3' UTR, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI569678, AL132716, BE644739, CN409914, U04840
    Consensus CDS
    CCDS9635.1
    UniProtKB/Swiss-Prot
    P51513
    Related
    ENSP00000342387.5, ENST00000344429.9
    Conserved Domains (1) summary
    cd02396
    Location:51117
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    26443090..26598033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021345.1XP_016876834.1  RNA-binding protein Nova-1 isoform X3

    UniProtKB/TrEMBL
    B7Z770
    Conserved Domains (2) summary
    cd00105
    Location:301366
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd02396
    Location:51116
    PCBP_like_KH; K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are ...
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