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NBEAL1 Gene

protein-coding   GIFtS: 47
GCID: GC02P203881

Neurobeachin-Like 1

(Previous names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...)
(Previous symbols: ALS2CR17, ALS2CR16)
  See NBEAL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Neurobeachin-Like 11 2     Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 16
Protein2 3
ALS2CR171 2 3 5     Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 17
Protein2 3
ALS2CR161 2 3     A530083I02Rik2
Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 161 2     beach2
Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 171 2     Neurobeachin-Like Protein 12

External Ids:    HGNC: 206811   Entrez Gene: 650652   Ensembl: ENSG000001444267   OMIM: 6098165   UniProtKB: Q6ZS303   

Export aliases for NBEAL1 gene to outside databases

Previous GC identifers: GC02P203826 GC02P203708 GC02P195727


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NBEAL1 Gene:
NBEAL1 (neurobeachin-like 1) is a protein-coding gene. Diseases associated with NBEAL1 include ovary serous adenocarcinoma, and lateral sclerosis. An important paralog of this gene is NSMAF.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NBEAL1 gene promoter:
         HOXA9   HOXA9B   Nkx2-2   C/EBPalpha   Meis-1b   POU2F1   POU2F1a   POU2F1b   POU2F1c   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNBEAL1 promoter sequence
   Search Chromatin IP Primers for NBEAL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBEAL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.2   Ensembl cytogenetic band:  2q33.2   HGNC cytogenetic band: 2q33

NBEAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBEAL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P203881:  view genomic region     (about GC identifiers)

Start:
203,879,602 bp from pter      End:
204,091,101 bp from pter
Size:
211,500 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NBEL1_HUMAN, Q6ZS30 (See protein sequence)
Recommended Name: Neurobeachin-like protein 1  
Size: 2694 amino acids; 307237 Da
Sequence caution: Sequence=AAO45288.1; Type=Frameshift; Positions=1666, 1675; Sequence=BAB69027.1; Type=Erroneous
termination; Positions=2695; Note=Translated as stop; Sequence=BAC85289.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAC87125.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=BAC87543.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NHD5 Q6Y876 Q6ZP36 Q6ZQY5 Q8N8R4 Q96Q30 Q96Q31
Alternative splicing: 2 isoforms:  Q6ZS30-2   Q6ZS30-1   

Explore the universe of human proteins at neXtProt for NBEAL1: NX_Q6ZS30

Explore proteomics data for NBEAL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NBEAL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001107604.1  
    ENSEMBL proteins: 
     ENSP00000399903   ENSP00000388466   ENSP00000411142  

    NBEAL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NBEAL1

     
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    LSBio Antibodies in human, mouse, rat for NBEAL1

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    Search eBioscience for ELISAs for NBEAL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 8):
     IPR000409 BEACH_dom
     IPR026916 NBEAL
     IPR023362 PH-BEACH_dom
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZS30

    ProtoNet protein and cluster: Q6ZS30

    1 Blocks protein domain: IPB000409 Beige/BEACH domain

    UniProtKB/Swiss-Prot: NBEL1_HUMAN, Q6ZS30
    Similarity: Belongs to the WD repeat neurobeachin family
    Similarity: Contains 1 BEACH domain
    Similarity: Contains 2 WD repeats


    Find genes that share domains with NBEAL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with NBEAL1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for NBEAL1:
     Decreased POU5F1-GFP protein e  G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NBEAL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NBEAL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NBEAL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NBEAL1

    miRNA
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    Block miRNA regulation of human, mouse, rat NBEAL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NBEAL1 (see all 11):
    hsa-miR-576-3p hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-551b* hsa-miR-93 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidNBEAL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NBEAL1
    Predesigned siRNA for gene silencing in human, mouse, rat NBEAL1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for NBEAL1 (see all 7)
    OriGene ORF clones in mouse, rat for NBEAL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NBEAL1 (NM_001114132)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NBEAL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NBEAL1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NBEAL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    lysosome1
    mitochondrion1
    nucleus1
    vacuole1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NBEAL1
    Interactions:

        Search GeneGlobe Interaction Network for NBEAL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for NBEAL1 (ENSP000003999034) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RABGEF1ENSP000002849574STRING: ENSP00000284957
    GGPS1ENSP000002828414STRING: ENSP00000282841
    UBCENSP000003448184STRING: ENSP00000344818
    RPS20ENSP000000095894STRING: ENSP00000009589
    RPS6ENSP000003697574STRING: ENSP00000369757
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NBEAL1 (NBEL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NBEAL1 gene (4 alternative transcripts): 
    NM_001099273.1  NM_198945.3  NM_205543.1  NM_001114132.1  

    Unigene Cluster for NBEAL1:

    Neurobeachin-like 1
    Hs.648846  [show with all ESTs]
    Unigene Representative Sequence: NM_001114132
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000497505 ENST00000449802(uc021vvj.1 uc002uzt.3) ENST00000478884(uc002uzq.3 uc010zid.1 uc010zie.1)
    ENST00000492870 ENST00000460416 ENST00000483147 ENST00000463830 ENST00000414576
    ENST00000460355 ENST00000434469(uc002uzu.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NBEAL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NBEAL1 (see all 11):
    hsa-miR-576-3p hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-551b* hsa-miR-93 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidNBEAL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NBEAL1
    Predesigned siRNA for gene silencing in human, mouse, rat NBEAL1
    Clone
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    OriGene clones in human, mouse for NBEAL1 (see all 7)
    OriGene ORF clones in mouse, rat for NBEAL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NBEAL1 (NM_001114132)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NBEAL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NBEAL1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NBEAL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NBEAL1
      QuantiTect SYBR Green Assays in human, mouse, rat NBEAL1
      QuantiFast Probe-based Assays in human, mouse, rat NBEAL1

    Additional mRNA sequence: 

    AB053318.1 AB053319.1 AK127772.1 AK128636.1 AK130065.1 AY172970.1 BC132950.1 BC137214.1 
    BC144532.1 BC144533.1 BX647133.1 

    13 DOTS entries:

    DT.92014042  DT.98131758  DT.100019647  DT.95262082  DT.75171410  DT.120976730  DT.120951066  DT.65288769 
    DT.440597  DT.121019930  DT.95151957  DT.75185760  DT.99959844 

    Selected AceView cDNA sequences (see all 248):

    CA848300 AK128636 CA865970 NM_198945 CA866260 CA848368 AK127772 AI245069 
    H63291 AI086904 BQ011618 AI631594 AK026491 CA848662 BU679064 BE741494 
    CD175144 BM793681 D31445 AY172970 AI191889 BX647133 CA848590 BG547170 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NBEAL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                                          -     -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b · 30c ^ 31
    SP1:                                                
    SP2:                                                
    SP3:                                -     -         


    ECgene alternative splicing isoforms for NBEAL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NBEAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NBEAL1 Expression
    About this image

    NBEAL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBEAL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.648846

    UniProtKB/Swiss-Prot: NBEL1_HUMAN, Q6ZS30
    Tissue specificity: Highly expressed in brain, kidney, prostate and testis. Weakly expressed in ovary, small
    intestine, colon and peripheral blood leukocytes. May be correlative to several tumors, such as ovary serous
    adenocarcinoma and metastasis mammary gland carcinoma breast

        Custom PCR Arrays for NBEAL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NBEAL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nbeal11 , 5 neurobeachin like 11, 5 88.68(n)1
    90.4(a)1
      1 (30.46 cM)5
    2691981  NM_173444.21  NP_775620.21 
     601814955 
    chicken
    (Gallus gallus)
    Aves NBEAL11 neurobeachin-like 1 77.3(n)
    80.66(a)
      424110  XM_004942673.1  XP_004942730.1 
    lizard
    (Anolis carolinensis)
    Reptilia NBEAL16
    neurobeachin-like 1
    78(a)
    1 ↔ 1
    GL343208.1(3302944-3447157)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.15582 Transcribed sequence with weak similarity to protein more 81.75(n)    AL955504.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nbeal11 neurobeachin-like 1 64.42(n)
    68.22(a)
      100332617  XM_005172092.1  XP_005172149.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433676
    --
    33(a)
    1 → many
    3L(4193993-4224003)
    worm
    (Caenorhabditis elegans)
    Secernentea T01H10.86
    Protein T01H10.8 (T01H10.8) mRNA, complete cds
    14(a)
    many ↔ many
    X(12128143-12141151) WBGene00011361
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BPH16
    PProtein homologous to human Chediak-Higashi syndr...
    19(a)
    1 → many
    III(179520-186023) YCR032W


    ENSEMBL Gene Tree for NBEAL1 (if available)
    TreeFam Gene Tree for NBEAL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBEAL1 gene
    NSMAF2  LYST2  WDFY42  LRBA2  NBEA2  WDFY32  NBEAL22  
    4 SIMAP similar genes for NBEAL1 using alignment to 4 protein entries:     NBEL1_HUMAN (see all proteins):
    FLJ00082    NBEAL2    DKFZp686K03100    WDFY3

    Find genes that share paralogs with NBEAL1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NBEAL1
    PGOHUM00000241736


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NBEAL1 (see all 3227)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714089151,2
    C--203338725(+) GAGCC-/TGTG  
     
    /TGTGTG
    TGTGT
    2 -- int1 cds11NA 2
    rs345152111,2
    C--203373707(+) TTGGAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs607480311,2
    C--203470771(+) AAAAA-/A/AAA 
            
    CGGTG
    1 -- int11NA 2
    rs1438316411,2
    C--203877605(+) AGCCAC/TTGGAG 1 -- us2k10--------
    rs76076551,2
    H--203877713(+) cagagT/Acaggg 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs1924717181,2
    --203877754(+) AGAAAG/TTATTT 1 -- us2k10--------
    rs1850793681,2
    --203877795(+) GCCACA/GGCTAG 1 -- us2k10--------
    rs1511080291,2
    C--203878041(+) TAGATA/TGGAAG 1 -- us2k10--------
    rs75940481,2
    C,F,A,H--203878152(+) aaaagT/Catatt 1 -- us2k123Minor allele frequency- C:0.18NS EA NA WA CSA 2350
    rs1410636811,2
    C--203878403(+) CATCTC/GAAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NBEAL1 (203879602 - 204091101 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NBEAL1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670801CNV Deletion23128226
    esv2721370CNV Deletion23290073
    esv2672568CNV Deletion23128226
    nsv820773CNV Deletion20802225
    dgv755e199CNV Deletion23128226
    esv2421527CNV Deletion20811451
    esv32794CNV Loss17666407
    nsv514115CNV Loss21397061
    nsv875715CNV Loss21882294
    esv27147CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609816    OMIM disorders: --

    3 diseases for NBEAL1:    
    About MalaCards
    ovary serous adenocarcinoma    lateral sclerosis    amyotrophic lateral sclerosis


    Find genes that share disorders with NBEAL1           About GenesLikeMe

    Genetic Association Database (GAD): NBEAL1

    Export disorders for NBEAL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NBEAL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NBEAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. (PubMed id 15193433)1, 2, 3, 9 Chen J.... Ying K. (Brain Res. Mol. Brain Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2 Hadano S....Ikeda J.-E. (Nat. Genet. 2001)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65065 HGNC: 20681 AceView: ALS2CR17 Ensembl:ENSG00000144426 euGenes: HUgn65065
    ECgene: NBEAL1 H-InvDB: NBEAL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NBEAL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NBEAL1 gene:
    Search GeneIP for patents involving NBEAL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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