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NRAP nebulin related anchoring protein [ Homo sapiens (human) ]

Gene ID: 4892, updated on 14-Nov-2024

Summary

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Official Symbol
NRAPprovided by HGNC
Official Full Name
nebulin related anchoring proteinprovided by HGNC
Primary source
HGNC:HGNC:7988
See related
Ensembl:ENSG00000197893 MIM:602873; AllianceGenome:HGNC:7988
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
N-RAP
Summary
Predicted to enable actin filament binding activity and muscle alpha-actinin binding activity. Predicted to be involved in cardiac muscle thin filament assembly. Predicted to be located in fascia adherens and muscle tendon junction. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in heart (RPKM 131.4), prostate (RPKM 26.5) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See NRAP in Genome Data Viewer
Location:
10q25.3
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (113588714..113664041, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (114480337..114555930, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115348473..115423800, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984270 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:115251436-115252635 Neighboring gene peptidylprolyl isomerase A pseudogene 39 Neighboring gene uncharacterized LOC124902504 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:115317286-115317966 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:115317967-115318647 Neighboring gene Sharpr-MPRA regulatory region 9721 Neighboring gene MPRA-validated peak1095 silencer Neighboring gene hyaluronan binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 959 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:115376450-115376951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4071 Neighboring gene caspase 7 Neighboring gene uncharacterized LOC124902505 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:115479382-115479555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:115480728-115481927 Neighboring gene pleckstrin homology domain containing S1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:115532373-115533572 Neighboring gene microRNA 4483

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. Koskenvuo JW, et al. PLoS One, 2021. PMID 33534821, Free PMC Article
  2. Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy. Truszkowska GT, et al. Sci Rep, 2017 Jun 13. PMID 28611399, Free PMC Article
  3. 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
  4. Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy. Gehmlich K, et al. Cell Tissue Res, 2004 Aug. PMID 15205937
  5. Complete cDNA sequence and tissue localization of N-RAP, a novel nebulin-related protein of striated muscle. Luo G, et al. Cell Motil Cytoskeleton, 1997. PMID 9295142

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
    Title: Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
  2. Loss-of-function mutation in NRAP gene is associated with dilated cardiomyopathy.
    Title: Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Novel association strategy with copy number variation for identifying new risk Loci of human diseases.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
  6. 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

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 GOA

Function Evidence Code Pubs
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables actin binding NAS
Non-traceable Author Statement
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables vinculin binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in muscle tendon junction ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
nebulin-related-anchoring protein

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_001261463.2 → NP_001248392.1  nebulin-related-anchoring protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an alternate exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    AL390197, AL832025, DA564310, F30818
    Consensus CDS
    CCDS73199.1
    UniProtKB/TrEMBL
    A0A0A0MRM2, A0AVL2
    Related
    ENSP00000358365.4, ENST00000369358.8
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530 → 555
    Nebulin; Nebulin repeat

  2. NM_001322945.2 → NP_001309874.1  nebulin-related-anchoring protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL390197
    UniProtKB/TrEMBL
    A0AVL2

  3. NM_006175.5 → NP_006166.3  nebulin-related-anchoring protein isoform 1

    See identical proteins and their annotated locations for NP_006166.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1, also known as isoform C).
    Source sequence(s)
    AL390197, AY177621, DA564310, F30818
    Consensus CDS
    CCDS7578.1
    UniProtKB/TrEMBL
    A0AVL2
    Related
    ENSP00000353666.3, ENST00000360478.7
    Conserved Domains (3) summary
    smart00227
    Location:453 → 483
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:495 → 520
    Nebulin; Nebulin repeat

  4. NM_198060.4 → NP_932326.2  nebulin-related-anchoring protein isoform 2

    See identical proteins and their annotated locations for NP_932326.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2, also known as isoform S) is longer than isoform 1.
    Source sequence(s)
    AL390197, AY177620, DA564310, F30818
    Consensus CDS
    CCDS7579.1
    UniProtKB/Swiss-Prot
    O15500, Q5VWI3, Q5VWI4, Q6MZK3, Q6N026, Q6N059, Q6NSH8, Q6PDB0, Q719H6, Q86TC5, Q86TD6, Q86TE6, Q86VF6, Q86VF7, Q8N3R6, Q8N8F9, Q8TCH0, Q96MG4
    UniProtKB/TrEMBL
    A0AVL2
    Related
    ENSP00000353078.3, ENST00000359988.4
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530 → 555
    Nebulin; Nebulin repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    113588714..113664041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425253.1 → XP_047281209.1  nebulin-related-anchoring protein isoform X4

  2. XM_024448029.2 → XP_024303797.1  nebulin-related-anchoring protein isoform X7

    UniProtKB/TrEMBL
    A0AVL2
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:209 → 234
    Nebulin; Nebulin repeat

  3. XM_005269864.3 → XP_005269921.1  nebulin-related-anchoring protein isoform X1

    UniProtKB/TrEMBL
    A0AVL2
    Conserved Domains (3) summary
    smart00227
    Location:453 → 483
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:495 → 520
    Nebulin; Nebulin repeat

  4. XM_005269865.3 → XP_005269922.1  nebulin-related-anchoring protein isoform X3

    UniProtKB/TrEMBL
    A0AVL2
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530 → 555
    Nebulin; Nebulin repeat

  5. XM_006717870.3 → XP_006717933.1  nebulin-related-anchoring protein isoform X2

    UniProtKB/TrEMBL
    A0AVL2
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530 → 555
    Nebulin; Nebulin repeat

  6. XM_005269867.3 → XP_005269924.1  nebulin-related-anchoring protein isoform X6

    UniProtKB/TrEMBL
    A0AVL2
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530 → 555
    Nebulin; Nebulin repeat

  7. XM_011539832.3 → XP_011538134.1  nebulin-related-anchoring protein isoform X5

    UniProtKB/TrEMBL
    A0AVL2
    Conserved Domains (3) summary
    smart00227
    Location:488 → 518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:6 → 58
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530 → 555
    Nebulin; Nebulin repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    114480337..114555930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365962.1 → XP_054221937.1  nebulin-related-anchoring protein isoform X4

  2. XM_054365965.1 → XP_054221940.1  nebulin-related-anchoring protein isoform X7

  3. XM_054365959.1 → XP_054221934.1  nebulin-related-anchoring protein isoform X1

  4. XM_054365961.1 → XP_054221936.1  nebulin-related-anchoring protein isoform X3

  5. XM_054365960.1 → XP_054221935.1  nebulin-related-anchoring protein isoform X2

  6. XM_054365964.1 → XP_054221939.1  nebulin-related-anchoring protein isoform X6

  7. XM_054365963.1 → XP_054221938.1  nebulin-related-anchoring protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86VF7.2 GenPept UniProtKB/Swiss-Prot:Q86VF7

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