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NEBL nebulette [ Homo sapiens (human) ]

Gene ID: 10529, updated on 11-Sep-2019

Summary

Official Symbol
NEBLprovided by HGNC
Official Full Name
nebuletteprovided by HGNC
Primary source
HGNC:HGNC:16932
See related
Ensembl:ENSG00000078114 MIM:605491
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LASP2; LNEBL
Summary
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression
Biased expression in heart (RPKM 103.7), thyroid (RPKM 26.9) and 7 other tissues See more
Orthologs

Genomic context

See NEBL in Genome Data Viewer
Location:
10p12.31
Exon count:
38
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (20779973..21174187, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (21068900..21463116, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376442 Neighboring gene microRNA 4675 Neighboring gene uncharacterized LOC102725112 Neighboring gene MT-ND1 pseudogene 21 Neighboring gene Sharpr-MPRA regulatory region 670 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 12489 Neighboring gene chromosome 10 open reading frame 113 Neighboring gene nucleophosmin 1 pseudogene 30 Neighboring gene NEBL antisense RNA 1 Neighboring gene RNA, U6 small nuclear 15, pseudogene Neighboring gene long intergenic non-protein coding RNA 2643

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?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2011-12-21)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2011-12-21)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
NHGRI GWA Catalog
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
NHGRI GWA Catalog
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ53769, MGC119746, MGC119747

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
filamin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
tropomyosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle thin filament assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
I band NAS
Non-traceable Author Statement
more info
PubMed 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
nebulette
Names
LIM and SH3 protein 2
LIM-nebulette
actin-binding Z-disk 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.

Genomic

  1. NG_017092.1 RefSeqGene

    Range
    5001..399215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_411

mRNA and Protein(s)

  1. NM_001173484.2NP_001166955.1  nebulette isoform 3

    See identical proteins and their annotated locations for NP_001166955.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in a frameshift. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AB209311, BC144201, BM973051, DT220372
    UniProtKB/Swiss-Prot
    O76041
    UniProtKB/TrEMBL
    Q59FZ8
    Conserved Domains (2) summary
    smart00227
    Location:98128
    NEBU; The Nebulin repeat is present also in Las1
    cd09447
    Location:557
    LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
  2. NM_006393.2NP_006384.1  nebulette isoform 1

    See identical proteins and their annotated locations for NP_006384.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). This isoform (1) is also known as the sarcomeric isoform.
    Source sequence(s)
    AB209311, BC110453, BI522541, BM973051, CR744526, Y16241
    Consensus CDS
    CCDS7134.1
    UniProtKB/Swiss-Prot
    O76041
    UniProtKB/TrEMBL
    Q59FZ8
    Related
    ENSP00000366326.4, ENST00000377122.8
    Conserved Domains (3) summary
    smart00227
    Location:762791
    NEBU; The Nebulin repeat is present also in Las1
    cd11935
    Location:9571014
    SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
    cl26511
    Location:294712
    Neuromodulin_N; Gap junction protein N-terminal region
  3. NM_213569.2NP_998734.1  nebulette isoform 2

    See identical proteins and their annotated locations for NP_998734.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. This isoform is referred to as LIM-nebulette or the non-muscle isoform.
    Source sequence(s)
    AB209311, AJ580772, BI522541, BM973051, CR744526
    Consensus CDS
    CCDS7133.1
    UniProtKB/Swiss-Prot
    O76041
    UniProtKB/TrEMBL
    Q59FZ8
    Related
    ENSP00000393896.2, ENST00000417816.2
    Conserved Domains (3) summary
    smart00227
    Location:98128
    NEBU; The Nebulin repeat is present also in Las1
    cd09447
    Location:557
    LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
    cd11935
    Location:213270
    SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    20779973..21174187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015468.1XP_016870957.1  nebulette isoform X1

    Conserved Domains (3) summary
    smart00227
    Location:587616
    NEBU; The Nebulin repeat is present also in Las1
    cd11935
    Location:941998
    SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
    pfam00880
    Location:307331
    Nebulin; Nebulin repeat
  2. XM_011519291.2XP_011517593.1  nebulette isoform X1

    See identical proteins and their annotated locations for XP_011517593.1

    Conserved Domains (3) summary
    smart00227
    Location:587616
    NEBU; The Nebulin repeat is present also in Las1
    cd11935
    Location:941998
    SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
    pfam00880
    Location:307331
    Nebulin; Nebulin repeat
  3. XM_005252342.5XP_005252399.1  nebulette isoform X2

    Conserved Domains (3) summary
    smart00227
    Location:569598
    NEBU; The Nebulin repeat is present also in Las1
    cd11935
    Location:923980
    SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
    pfam00880
    Location:289313
    Nebulin; Nebulin repeat
  4. XM_005252343.5XP_005252400.1  nebulette isoform X3

    See identical proteins and their annotated locations for XP_005252400.1

    Conserved Domains (3) summary
    smart00227
    Location:603632
    NEBU; The Nebulin repeat is present also in Las1
    cd11935
    Location:876933
    SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
    pfam00880
    Location:323347
    Nebulin; Nebulin repeat
  5. XM_005252344.5XP_005252401.1  nebulette isoform X4

    Conserved Domains (2) summary
    smart00227
    Location:603632
    NEBU; The Nebulin repeat is present also in Las1
    pfam00880
    Location:323347
    Nebulin; Nebulin repeat

RNA

  1. XR_242691.5 RNA Sequence

  2. XR_001746995.2 RNA Sequence

  3. XR_001746996.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016365.1: Suppressed sequence

    Description
    NM_016365.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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