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

    Gene ID: 4892, updated on 3-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 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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    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)

    Genotypes

    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 biological_process ND
    No biological Data available
    more info
    		  
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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