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

Gene ID: 4892, updated on 13-Mar-2020

Summary

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
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
Expression
Biased expression in heart (RPKM 131.4), prostate (RPKM 26.5) and 2 other tissues See more
Orthologs

Genomic context

See NRAP in Genome Data Viewer
Location:
10q25.3
Exon count:
42
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (113588714..113664070, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115348583..115423829, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984269 Neighboring gene uncharacterized LOC107984270 Neighboring gene peptidylprolyl isomerase A pseudogene 39 Neighboring gene hyaluronan binding protein 2 Neighboring gene caspase 7 Neighboring gene pleckstrin homology domain containing S1 Neighboring gene microRNA 4483

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin binding NAS
Non-traceable Author Statement
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
muscle alpha-actinin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cardiac muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fascia adherens ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle tendon junction ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
nebulin-related-anchoring protein

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_001261463.1NP_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/Swiss-Prot
    Q86VF7
    UniProtKB/TrEMBL
    A0A0A0MRM2
    Related
    ENSP00000358365.4, ENST00000369358.8
    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530555
    Nebulin; Nebulin repeat
  2. NM_001322945.2NP_001309874.1  nebulin-related-anchoring protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL390197
  3. NM_006175.4NP_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/Swiss-Prot
    Q86VF7
    Related
    ENSP00000353666.3, ENST00000360478.7
    Conserved Domains (3) summary
    smart00227
    Location:453483
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:495520
    Nebulin; Nebulin repeat
  4. NM_198060.4NP_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
    Q86VF7
    Related
    ENSP00000353078.2, ENST00000359988.3
    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530555
    Nebulin; Nebulin repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    113588714..113664070 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269864.2XP_005269921.1  nebulin-related-anchoring protein isoform X1

    Conserved Domains (3) summary
    smart00227
    Location:453483
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:495520
    Nebulin; Nebulin repeat
  2. XM_005269865.2XP_005269922.1  nebulin-related-anchoring protein isoform X3

    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530555
    Nebulin; Nebulin repeat
  3. XM_006717870.2XP_006717933.1  nebulin-related-anchoring protein isoform X2

    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530555
    Nebulin; Nebulin repeat
  4. XM_005269867.2XP_005269924.1  nebulin-related-anchoring protein isoform X5

    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530555
    Nebulin; Nebulin repeat
  5. XM_011539832.2XP_011538134.1  nebulin-related-anchoring protein isoform X4

    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:530555
    Nebulin; Nebulin repeat
  6. XM_024448029.1XP_024303797.1  nebulin-related-anchoring protein isoform X6

    Conserved Domains (3) summary
    smart00227
    Location:488518
    NEBU; The Nebulin repeat is present also in Las1
    cd09446
    Location:658
    LIM_N_RAP; The LIM domain of N-RAP
    pfam00880
    Location:209234
    Nebulin; Nebulin repeat
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