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Nrap nebulin-related anchoring protein [ Mus musculus (house mouse) ]

Gene ID: 18175, updated on 30-Apr-2024

Summary

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Official Symbol
Nrapprovided by MGI
Official Full Name
nebulin-related anchoring proteinprovided by MGI
Primary source
MGI:MGI:1098765
See related
Ensembl:ENSMUSG00000049134 AllianceGenome:MGI:1098765
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables actin binding activity; muscle alpha-actinin binding activity; and vinculin binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to act upstream of or within actin cytoskeleton organization. Located in fascia adherens; muscle tendon junction; and myofibril. Is expressed in early conceptus; heart; limb musculature; oocyte; and skeletal muscle. Orthologous to human NRAP (nebulin related anchoring protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart adult (RPKM 47.0) and mammary gland adult (RPKM 9.6) See more
Orthologs
human all
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Genomic context

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Location:
19 D2; 19 51.8 cM
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (56308473..56378466, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (56320037..56390062, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32144 Neighboring gene predicted gene, 32257 Neighboring gene predicted gene, 22271 Neighboring gene hyaluronic acid binding protein 2 Neighboring gene predicted gene 17197 Neighboring gene STARR-seq mESC enhancer starr_46523 Neighboring gene caspase 7 Neighboring gene predicted gene, 46657

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Cardiac-specific NRAP overexpression causes right ventricular dysfunction in mice. Lu S, et al. Exp Cell Res, 2011 May 1. PMID 21276443, Free PMC Article
  2. N-RAP scaffolds I-Z-I assembly during myofibrillogenesis in cultured chick cardiomyocytes. Carroll S, et al. J Cell Sci, 2004 Jan 1. PMID 14657273
  3. Expression and alternative splicing of N-RAP during mouse skeletal muscle development. Lu S, et al. Cell Motil Cytoskeleton, 2008 Dec. PMID 18792955, Free PMC Article
  4. Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle. Mohiddin SA, et al. Cell Motil Cytoskeleton, 2003 Jul. PMID 12789664
  5. N-RAP expression during mouse heart development. Lu S, et al. Dev Dyn, 2005 May. PMID 15765519

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
    Title: Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.
  2. Nrarp-deficient embryos and mice exhibit genetic background-dependent defects of the axial skeleton. In Nrarp mutant embryos, the posterior somite compartment was expanded.
    Title: The Notch-regulated ankyrin repeat protein is required for proper anterior-posterior somite patterning in mice.
  3. Results show that chronic NRAP overexpression in the mouse leads to right ventricular cardiomyopathy by 10 months of age.
    Title: Cardiac-specific NRAP overexpression causes right ventricular dysfunction in mice.
  4. Highly conserved and exclusively expressed in cardiac and skeletal muscle. Candidate cause for cardiac and skeletal myopathies
    Title: Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables muscle alpha-actinin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables vinculin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within actin cytoskeleton organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in cardiac muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in fascia adherens IDA
Inferred from Direct Assay
more info
 PubMed 
located_in muscle tendon junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in myofibril IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nebulin-related-anchoring protein
Names
N-RAP

NCBI Reference Sequences (RefSeq)

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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_001286552.2 → NP_001273481.1  nebulin-related-anchoring protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC115771
    UniProtKB/TrEMBL
    E9PZF4
    Conserved Domains (2) summary
    smart00227
    Location:404 → 434
    NEBU; The Nebulin repeat is present also in Las1
    pfam00880
    Location:232 → 258
    Nebulin; Nebulin repeat

  2. NM_001403176.1 → NP_001390105.1  nebulin-related-anchoring protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC115771

  3. NM_001403178.1 → NP_001390107.1  nebulin-related-anchoring protein isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC115771

  4. NM_001403180.1 → NP_001390109.1  nebulin-related-anchoring protein isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC115771

  5. NM_001403184.1 → NP_001390113.1  nebulin-related-anchoring protein isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC115771

  6. NM_001403185.1 → NP_001390114.1  nebulin-related-anchoring protein isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC115771

  7. NM_001403186.1 → NP_001390115.1  nebulin-related-anchoring protein isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC115771

  8. NM_001403187.1 → NP_001390116.1  nebulin-related-anchoring protein isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC115771

  9. NM_001403188.1 → NP_001390117.1  nebulin-related-anchoring protein isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC115771

  10. NM_001403190.1 → NP_001390119.1  nebulin-related-anchoring protein isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC115771

  11. NM_001403191.1 → NP_001390120.1  nebulin-related-anchoring protein isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC115771

  12. NM_001403192.1 → NP_001390121.1  nebulin-related-anchoring protein isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC115771

  13. NM_001403193.1 → NP_001390122.1  nebulin-related-anchoring protein isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC115771

  14. NM_001403194.1 → NP_001390123.1  nebulin-related-anchoring protein isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC115771

  15. NM_001403195.1 → NP_001390124.1  nebulin-related-anchoring protein isoform 17

    Status: VALIDATED

    Source sequence(s)
    AC115771

  16. NM_001403196.1 → NP_001390125.1  nebulin-related-anchoring protein isoform 18

    Status: VALIDATED

    Source sequence(s)
    AC115771
    Related
    ENSMUSP00000093640.5, ENSMUST00000095947.11

  17. NM_008733.5 → NP_032759.3  nebulin-related-anchoring protein isoform S

    See identical proteins and their annotated locations for NP_032759.3

    Status: VALIDATED

    Source sequence(s)
    AC115771
    Consensus CDS
    CCDS29913.1
    UniProtKB/Swiss-Prot
    E9QN76, O35884, Q3UTY7, Q3UU10, Q80V40, Q80XB4
    UniProtKB/TrEMBL
    E9PZF4
    Related
    ENSMUSP00000073228.7, ENSMUST00000073536.13
    Conserved Domains (3) summary
    smart00227
    Location:520 → 550
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:561 → 588
    Nebulin; Nebulin repeat

  18. NM_198059.4 → NP_932307.2  nebulin-related-anchoring protein isoform C

    Status: VALIDATED

    Source sequence(s)
    AC115771
    Consensus CDS
    CCDS29914.1
    UniProtKB/TrEMBL
    E9PZF4
    Related
    ENSMUSP00000048364.9, ENSMUST00000040711.15
    Conserved Domains (3) summary
    smart00227
    Location:485 → 515
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:313 → 339
    Nebulin; Nebulin repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    56308473..56378466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80XB4.3 GenPept UniProtKB/Swiss-Prot:Q80XB4

Gene LinkOut

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