Aliases for NBEAL1 Gene

Aliases for NBEAL1 Gene

  • Neurobeachin Like 1 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 16 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 17 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 16 2 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 17 2 3
  • Neurobeachin-Like Protein 1 3 4
  • ALS2CR16 3 4
  • ALS2CR17 3 4
  • Neurobeachin-Like 1 2
  • A530083I02Rik 3
  • Beach 3

External Ids for NBEAL1 Gene

Previous HGNC Symbols for NBEAL1 Gene

  • ALS2CR17
  • ALS2CR16

Previous GeneCards Identifiers for NBEAL1 Gene

  • GC02P203826
  • GC02P203708
  • GC02P195727
  • GC02P203881

Summaries for NBEAL1 Gene

GeneCards Summary for NBEAL1 Gene

NBEAL1 (Neurobeachin Like 1) is a Protein Coding gene. Diseases associated with NBEAL1 include Amyotrophic Lateral Sclerosis 2, Juvenile and Ovary Serous Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is NBEAL2.

Additional gene information for NBEAL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBEAL1 Gene

Genomics for NBEAL1 Gene

GeneHancer (GH) Regulatory Elements for NBEAL1 Gene

Promoters and enhancers for NBEAL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBEAL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBEAL1

Top Transcription factor binding sites by QIAGEN in the NBEAL1 gene promoter:
  • C/EBPalpha
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Nkx2-2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for NBEAL1 Gene

Genomic Locations for NBEAL1 Gene
211,762 bases
Plus strand
211,500 bases
Plus strand

Genomic View for NBEAL1 Gene

Genes around NBEAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBEAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBEAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBEAL1 Gene

Proteins for NBEAL1 Gene

  • Protein details for NBEAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neurobeachin-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A6NHD5
    • Q6Y876
    • Q6ZP36
    • Q6ZQY5
    • Q8N8R4
    • Q96Q30
    • Q96Q31

    Protein attributes for NBEAL1 Gene

    2694 amino acids
    Molecular mass:
    307237 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAO45288.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB69027.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305}; Sequence=BAC85289.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC87125.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC87543.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NBEAL1 Gene


neXtProt entry for NBEAL1 Gene

Post-translational modifications for NBEAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBEAL1 Gene

Domains & Families for NBEAL1 Gene

Suggested Antigen Peptide Sequences for NBEAL1 Gene

GenScript: Design optimal peptide antigens:
  • NBEAL1 protein (A2RUL1_HUMAN)
  • Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein (NBEL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the WD repeat neurobeachin family.
  • Belongs to the WD repeat neurobeachin family.
genes like me logo Genes that share domains with NBEAL1: view

Function for NBEAL1 Gene

Phenotypes From GWAS Catalog for NBEAL1 Gene

genes like me logo Genes that share phenotypes with NBEAL1: view

Animal Models for NBEAL1 Gene

MGI Knock Outs for NBEAL1:
  • Nbeal1 Nbeal1<tm2b(EUCOMM)Hmgu>

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NBEAL1 Gene

Localization for NBEAL1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NBEAL1 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NBEAL1 Gene

Pathways & Interactions for NBEAL1 Gene

PathCards logo

SuperPathways for NBEAL1 Gene

No Data Available

Interacting Proteins for NBEAL1 Gene


Gene Ontology (GO) - Biological Process for NBEAL1 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBEAL1 Gene

Drugs & Compounds for NBEAL1 Gene

No Compound Related Data Available

Transcripts for NBEAL1 Gene

mRNA/cDNA for NBEAL1 Gene

20 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBEAL1 Gene

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: - -

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

Relevant External Links for NBEAL1 Gene

GeneLoc Exon Structure for

Expression for NBEAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBEAL1 Gene

Protein differential expression in normal tissues from HIPED for NBEAL1 Gene

This gene is overexpressed in Stomach (21.2), Bone marrow mesenchymal stem cell (18.0), and Placenta (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NBEAL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBEAL1

SOURCE GeneReport for Unigene cluster for NBEAL1 Gene:


mRNA Expression by UniProt/SwissProt for NBEAL1 Gene:

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.

Evidence on tissue expression from TISSUES for NBEAL1 Gene

  • Blood(3)
genes like me logo Genes that share expression patterns with NBEAL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBEAL1 Gene

Orthologs for NBEAL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NBEAL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NBEAL1 31 30
  • 99.58 (n)
(Canis familiaris)
Mammalia NBEAL1 31 30
  • 92.5 (n)
(Bos Taurus)
Mammalia NBEAL1 31 30
  • 92.03 (n)
(Mus musculus)
Mammalia Nbeal1 17 31 30
  • 88.68 (n)
(Rattus norvegicus)
Mammalia Nbeal1 30
  • 87.24 (n)
(Monodelphis domestica)
Mammalia NBEAL1 31
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia NBEAL1 31
  • 82 (a)
(Gallus gallus)
Aves NBEAL1 31 30
  • 77.3 (n)
(Anolis carolinensis)
Reptilia NBEAL1 31
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nbeal1 30
  • 71.93 (n)
Str.1558 30
(Danio rerio)
Actinopterygii NBEAL1 31
  • 66 (a)
nbeal1 30
  • 64.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43367 31
  • 33 (a)
(Caenorhabditis elegans)
Secernentea T01H10.8 31
  • 14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 31
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
Cin.3870 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3870 30
Species where no ortholog for NBEAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NBEAL1 Gene

Gene Tree for NBEAL1 (if available)
Gene Tree for NBEAL1 (if available)
Evolutionary constrained regions (ECRs) for NBEAL1: view image

Paralogs for NBEAL1 Gene

Paralogs for NBEAL1 Gene

(4) SIMAP similar genes for NBEAL1 Gene using alignment to 4 proteins:

  • H7C3C8_HUMAN Pseudogenes for NBEAL1 Gene

genes like me logo Genes that share paralogs with NBEAL1: view

Variants for NBEAL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBEAL1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
714942 Benign: not provided 203,057,352(+) A/G SYNONYMOUS_VARIANT
714943 Benign: not provided 203,193,834(+) C/G MISSENSE_VARIANT
719902 Benign: not provided 203,144,736(+) A/T MISSENSE_VARIANT
720343 Benign: not provided 203,132,011(+) G/A SYNONYMOUS_VARIANT
720910 Benign: not provided 203,201,533(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NBEAL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NBEAL1 Gene

Variant ID Type Subtype PubMed ID
dgv7254n54 CNV loss 21841781
dgv7255n54 CNV loss 21841781
dgv7256n54 CNV loss 21841781
dgv7257n54 CNV loss 21841781
dgv7258n54 CNV loss 21841781
dgv7259n54 CNV loss 21841781
dgv7260n54 CNV loss 21841781
dgv755e199 CNV deletion 23128226
esv2421527 CNV deletion 20811451
esv2670801 CNV deletion 23128226
esv2672568 CNV deletion 23128226
esv27147 CNV gain 19812545
esv2721370 CNV deletion 23290073
esv32794 CNV loss 17666407
esv3560841 CNV deletion 23714750
esv3584277 CNV loss 25503493
esv3594004 CNV loss 21293372
esv3594005 CNV loss 21293372
esv3594006 CNV loss 21293372
nsv1001799 CNV gain 25217958
nsv1131541 CNV deletion 24896259
nsv442846 CNV loss 18776908
nsv472737 CNV novel sequence insertion 20440878
nsv474865 CNV novel sequence insertion 20440878
nsv514115 CNV loss 21397061
nsv584212 CNV loss 21841781
nsv584216 CNV loss 21841781
nsv584223 CNV gain 21841781
nsv819067 CNV gain 19587683
nsv820773 CNV deletion 20802225
nsv821877 CNV gain 20364138
nsv821878 CNV gain 20364138
nsv961553 CNV duplication 23825009
nsv961554 CNV duplication 23825009
nsv961555 CNV duplication 23825009

Variation tolerance for NBEAL1 Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBEAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBEAL1 Gene

Disorders for NBEAL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NBEAL1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBEAL1

genes like me logo Genes that share disorders with NBEAL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBEAL1 Gene

Publications for NBEAL1 Gene

  1. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. (PMID: 15193433) Chen J … Ying K (Brain research. Molecular brain research 2004) 2 3 4 23 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S … Ikeda JE (Nature genetics 2001) 3 4 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for NBEAL1 Gene

Sources for NBEAL1 Gene