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Aliases for NRAP Gene

Aliases for NRAP Gene

  • Nebulin Related Anchoring Protein 2 3 5
  • N-RAP 3 4
  • Nebulin-Related Anchoring Protein 2
  • Nebulin-Related-Anchoring Protein 3

External Ids for NRAP Gene

Previous GeneCards Identifiers for NRAP Gene

  • GC10M114244
  • GC10M114582
  • GC10M115479
  • GC10M115013
  • GC10M115338
  • GC10M108975

Summaries for NRAP Gene

GeneCards Summary for NRAP Gene

NRAP (Nebulin Related Anchoring Protein) is a Protein Coding gene. Diseases associated with NRAP include Myopathy, Myofibrillar, 5. Gene Ontology (GO) annotations related to this gene include actin binding and muscle alpha-actinin binding. An important paralog of this gene is NEB.

UniProtKB/Swiss-Prot for NRAP Gene

  • May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.

Gene Wiki entry for NRAP Gene

Additional gene information for NRAP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRAP Gene

Genomics for NRAP Gene

GeneHancer (GH) Regulatory Elements for NRAP Gene

Promoters and enhancers for NRAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I113663 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 559.5 -0.2 -185 1.1 NRAP CASP7
GH10I113665 Enhancer 0.9 ENCODE dbSUPER 550.8 -2.0 -1977 1.7 JUN ETV1 CEBPG ZNF335 GATA3 NFATC1 ATF7 FOS RUNX3 CBFB NRAP CASP7
GH10I113664 Enhancer 0.7 dbSUPER 559.6 +0.9 862 0.5 ZBTB21 FEZF1 TSHZ1 ZNF501 OSR2 HIC1 ZSCAN21 PRDM6 CBX8 ZNF366 NRAP CASP7 HABP2
GH10I113623 Enhancer 0.6 dbSUPER 20.8 +36.4 36407 9.1 KLF1 USF1 RXRA YBX1 KLF4 MAFF JUND SCRT2 CREB1 HNF4A NRAP CASP7 HABP2
GH10I113788 Enhancer 1 Ensembl ENCODE 9.8 -124.8 -124848 1.1 BMI1 BATF IRF4 ATF7 ETV6 FOS BCLAF1 IKZF2 RUNX3 CBFB CASP7 ENSG00000234393 RNU6-709P PLEKHS1 ADRB1 NRAP MIR4483 ENSG00000212589
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NRAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NRAP gene promoter:

Genomic Locations for NRAP Gene

Genomic Locations for NRAP Gene
chr10:113,588,716-113,664,127
(GRCh38/hg38)
Size:
75,412 bases
Orientation:
Minus strand
chr10:115,348,475-115,423,886
(GRCh37/hg19)

Genomic View for NRAP Gene

Genes around NRAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRAP Gene

Proteins for NRAP Gene

  • Protein details for NRAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VF7-NRAP_HUMAN
    Recommended name:
    Nebulin-related-anchoring protein
    Protein Accession:
    Q86VF7
    Secondary Accessions:
    • O15500
    • Q5VWI3
    • Q5VWI4
    • Q6MZK3
    • Q6N026
    • Q6N059
    • Q6NSH8
    • Q6PDB0
    • Q719H6
    • Q86TC5
    • Q86TD6
    • Q86TE6
    • Q86VF6
    • Q8N3R6
    • Q8N8F9
    • Q8TCH0
    • Q96MG4

    Protein attributes for NRAP Gene

    Size:
    1730 amino acids
    Molecular mass:
    197074 Da
    Quaternary structure:
    • Interacts with actin, alpha-actinin, KLHL41, TLN1 and VCL. Interacts with CSRP3.
    SequenceCaution:
    • Sequence=AAH58825.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH70130.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAQ09536.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04884.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NRAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NRAP Gene

Post-translational modifications for NRAP Gene

No Post-translational modifications

No data available for DME Specific Peptides for NRAP Gene

Domains & Families for NRAP Gene

Gene Families for NRAP Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NRAP Gene

Suggested Antigen Peptide Sequences for NRAP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NRAP: view

No data available for UniProtKB/Swiss-Prot for NRAP Gene

Function for NRAP Gene

Molecular function for NRAP Gene

GENATLAS Biochemistry:
nebulin-related actin binding protein,expressed exclusively in striated muscle
UniProtKB/Swiss-Prot Function:
May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix.

Phenotypes From GWAS Catalog for NRAP Gene

Gene Ontology (GO) - Molecular Function for NRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding NAS 9339382
GO:0005515 protein binding IPI 15205937
GO:0017166 vinculin binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051371 muscle alpha-actinin binding IEA,ISS --
genes like me logo Genes that share ontologies with NRAP: view

Phenotypes for NRAP Gene

GenomeRNAi human phenotypes for NRAP:
genes like me logo Genes that share phenotypes with NRAP: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NRAP Gene

Localization for NRAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRAP Gene

Note=Localized at the myotendinous junction in skeletal muscle and at the intercalated disk in cardiac muscle. .

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NRAP gene
Compartment Confidence
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for NRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005916 fascia adherens ISS,IEA --
GO:0005927 muscle tendon junction IEA,ISS --
GO:0030016 myofibril IEA --
genes like me logo Genes that share ontologies with NRAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NRAP Gene

Pathways & Interactions for NRAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for NRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with NRAP: view

No data available for Pathways by source and SIGNOR curated interactions for NRAP Gene

Drugs & Compounds for NRAP Gene

No Compound Related Data Available

Transcripts for NRAP Gene

Unigene Clusters for NRAP Gene

Nebulin-related anchoring protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NRAP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -

Relevant External Links for NRAP Gene

GeneLoc Exon Structure for
NRAP
ECgene alternative splicing isoforms for
NRAP

Expression for NRAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NRAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NRAP Gene

This gene is overexpressed in Muscle - Skeletal (x35.2) and Heart - Left Ventricle (x13.2).

Protein differential expression in normal tissues from HIPED for NRAP Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (28.8), Heart (13.3), Spinal cord (12.0), and Brain (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NRAP Gene



NURSA nuclear receptor signaling pathways regulating expression of NRAP Gene:

NRAP

SOURCE GeneReport for Unigene cluster for NRAP Gene:

Hs.268788

mRNA Expression by UniProt/SwissProt for NRAP Gene:

Q86VF7-NRAP_HUMAN
Tissue specificity: Expressed in cardiac and skeletal muscle.

Evidence on tissue expression from TISSUES for NRAP Gene

  • Muscle(4.9)
  • Heart(4)
genes like me logo Genes that share expression patterns with NRAP: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NRAP Gene

Orthologs for NRAP Gene

This gene was present in the common ancestor of animals.

Orthologs for NRAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NRAP 33 34
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia NRAP 33 34
  • 90.49 (n)
cow
(Bos Taurus)
Mammalia NRAP 33 34
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Nrap 33
  • 85.27 (n)
mouse
(Mus musculus)
Mammalia Nrap 33 16 34
  • 85.26 (n)
oppossum
(Monodelphis domestica)
Mammalia NRAP 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NRAP 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRAP 33 34
  • 74.16 (n)
lizard
(Anolis carolinensis)
Reptilia NRAP 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrap 33
  • 69.12 (n)
zebrafish
(Danio rerio)
Actinopterygii NRAP 34
  • 57 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6755 33
worm
(Caenorhabditis elegans)
Secernentea F42H10.3 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for NRAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NRAP Gene

ENSEMBL:
Gene Tree for NRAP (if available)
TreeFam:
Gene Tree for NRAP (if available)

Paralogs for NRAP Gene

Paralogs for NRAP Gene

(3) SIMAP similar genes for NRAP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NRAP: view

Variants for NRAP Gene

Sequence variations from dbSNP and Humsavar for NRAP Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10885478 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,589,157(-) G/A/T intron_variant
rs11575787 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,588,990(-) CTTCTTCTT/CTTCTT coding_sequence_variant, inframe_deletion
rs11575788 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,589,529(-) G/A intron_variant
rs117698899 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,589,484(-) C/A intron_variant
rs186172374 uncertain-significance, Factor VII Marburg I Variant Thrombophilia 113,588,734(-) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NRAP Gene

Variant ID Type Subtype PubMed ID
esv3309646 CNV mobile element insertion 20981092
esv3380212 CNV insertion 20981092
esv3428654 CNV insertion 20981092
esv3577738 CNV gain 25503493
esv3624603 CNV gain 21293372
esv3624604 CNV gain 21293372
nsv1048819 CNV gain 25217958
nsv522830 CNV loss 19592680
nsv526006 CNV loss 19592680
nsv7211 OTHER inversion 18451855
nsv7555 CNV deletion 18451855

Variation tolerance for NRAP Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 32.12; 99.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NRAP Gene

Human Gene Mutation Database (HGMD)
NRAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRAP Gene

Disorders for NRAP Gene

MalaCards: The human disease database

(1) MalaCards diseases for NRAP Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 5
  • mfm5
- elite association - COSMIC cancer census association via MalaCards
Search NRAP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NRAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NRAP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NRAP Gene

Publications for NRAP Gene

  1. Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle. (PMID: 12789664) Mohiddin SA … Fananapazir L (Cell motility and the cytoskeleton 2003) 2 3 4 22 58
  2. Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy. (PMID: 15205937) Gehmlich K … Fürst DO (Cell and tissue research 2004) 3 4 22 58
  3. Molecular interactions of N-RAP, a nebulin-related protein of striated muscle myotendon junctions and intercalated disks. (PMID: 10320340) Luo G … Horowits R (Biochemistry 1999) 2 3 22 58
  4. Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes. (PMID: 9339382) Luo G … Horowits R (Genomics 1997) 3 4 22 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for NRAP Gene

Sources for NRAP Gene

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