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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 17 2 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 16 2 3
  • ALS2CR16 3 4
  • ALS2CR17 3 4
  • Neurobeachin-Like Protein 1 3
  • 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 Ovary Serous Adenocarcinoma. GO annotations related to this gene include binding. An important paralog of this gene is NBEAL2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBEAL1 Gene

Genomics for NBEAL1 Gene

Regulatory Elements for NBEAL1 Gene

Enhancers for NBEAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F203013 0.2 ENCODE 31.1 +0.9 874 4.0 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS NBEAL1 NOP58 WDR12 RPL7P14
GH02F203060 0.6 ENCODE 29.7 +47.0 47021 2.0 TEAD1 TEAD4 HOMEZ MAFK TEAD3 NBEAL1 CYP20A1 LOC100419679 GC02M203053 ENSG00000202059
GH02F203001 0.7 ENCODE 29.6 -12.1 -12098 1.3 MNT NBEAL1 CYP20A1 GC02P202996
GH02F202965 1.3 FANTOM5 Ensembl ENCODE 27.6 -48.9 -48875 1.2 HDAC1 PKNOX1 CBX3 CREB3L1 CHAMP1 CREM USF2 JUNB TBX21 CREB3 NBEAL1 WDR12 CARF ICA1L GC02M202945 GC02P202987
GH02F202932 0.9 ENCODE 27.5 -81.6 -81645 1.4 JUND STAT1 NBEAL1 CARF WDR12 LOC100887068 GC02M202945
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NBEAL1 on UCSC Golden Path with GeneCards custom track

Promoters for NBEAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001405130 1884 6200 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS

Genomic Location for NBEAL1 Gene

Chromosome:
2
Start:
203,014,617 bp from pter
End:
203,226,378 bp from pter
Size:
211,762 bases
Orientation:
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:
    Q6ZS30-NBEL1_HUMAN
    Recommended name:
    Neurobeachin-like protein 1
    Protein Accession:
    Q6ZS30
    Secondary Accessions:
    • A6NHD5
    • Q6Y876
    • Q6ZP36
    • Q6ZQY5
    • Q8N8R4
    • Q96Q30
    • Q96Q31

    Protein attributes for NBEAL1 Gene

    Size:
    2694 amino acids
    Molecular mass:
    307237 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAO45288.1; Type=Frameshift; Positions=1666, 1675; Evidence={ECO:0000305}; Sequence=BAB69027.1; Type=Erroneous termination; Positions=2695; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=BAC85289.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC87125.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC87543.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NBEAL1 Gene

    UniProtKB/Swiss-Prot:

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

Graphical View of Domain Structure for InterPro Entry

Q6ZS30

UniProtKB/Swiss-Prot:

NBEL1_HUMAN :
  • Contains 1 BEACH domain.
  • Belongs to the WD repeat neurobeachin family.
  • Contains 2 WD repeats.
Domain:
  • Contains 1 BEACH domain.
  • Contains 1 BEACH-type PH domain.
Family:
  • Belongs to the WD repeat neurobeachin family.
Similarity:
  • Contains 2 WD repeats.
genes like me logo Genes that share domains with NBEAL1: view

Function for NBEAL1 Gene

Gene Ontology (GO) - Molecular Function for NBEAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IBA --
genes like me logo Genes that share ontologies with NBEAL1: view
genes like me logo Genes that share phenotypes with NBEAL1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for NBEAL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBEAL1 Gene COMPARTMENTS Subcellular localization image for NBEAL1 gene
Compartment Confidence
cytosol 4
nucleus 3
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NBEAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0012505 endomembrane system IBA --
GO:0019898 extrinsic component of membrane IBA --
genes like me logo Genes that share ontologies with NBEAL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NBEAL1 Gene

Pathways & Interactions for NBEAL1 Gene

SuperPathways for NBEAL1 Gene

No Data Available

Interacting Proteins for NBEAL1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000399903%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000282841%0d%0a9606.ENSP00000284957%0d%0a9606.ENSP00000398177%0d%0a9606.ENSP00000358033%0d%0a
Selected Interacting proteins: ENSP00000399903 Q6ZS30-NBEL1_HUMAN for NBEAL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for NBEAL1 Gene

None

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

Transcripts for NBEAL1 Gene

Unigene Clusters for NBEAL1 Gene

Neurobeachin-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - -
SP2:
SP3:

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

Relevant External Links for NBEAL1 Gene

GeneLoc Exon Structure for
NBEAL1
ECgene alternative splicing isoforms for
NBEAL1

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, PaxDb, MaxQB, and MOPED for NBEAL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NBEAL1 Gene:

NBEAL1

SOURCE GeneReport for Unigene cluster for NBEAL1 Gene:

Hs.648846

mRNA Expression by UniProt/SwissProt for NBEAL1 Gene:

Q6ZS30-NBEL1_HUMAN
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.
genes like me logo Genes that share expression patterns with NBEAL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia NBEAL1 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia NBEAL1 34 35
  • 92.5 (n)
cow
(Bos Taurus)
Mammalia NBEAL1 34 35
  • 92.03 (n)
mouse
(Mus musculus)
Mammalia Nbeal1 34 16 35
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Nbeal1 34
  • 87.24 (n)
oppossum
(Monodelphis domestica)
Mammalia NBEAL1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NBEAL1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NBEAL1 34 35
  • 77.3 (n)
lizard
(Anolis carolinensis)
Reptilia NBEAL1 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbeal1 34
  • 71.93 (n)
Str.1558 34
zebrafish
(Danio rerio)
Actinopterygii NBEAL1 35
  • 66 (a)
OneToOne
nbeal1 34
  • 64.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43367 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 35
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3870 34
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

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

Paralogs for NBEAL1 Gene

Paralogs for NBEAL1 Gene

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

Pseudogenes.org Pseudogenes for NBEAL1 Gene

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

Variants for NBEAL1 Gene

Sequence variations from dbSNP and Humsavar for NBEAL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10165638 -- 203,182,865(+) ATATT(A/G)TTCTT intron-variant
rs10165647 -- 203,182,882(+) GACAA(A/C)TATAA intron-variant
rs10165852 -- 203,040,787(+) tcttg(G/T)ctcac intron-variant
rs10169440 -- 203,214,372(+) CTATA(A/C)TAACC intron-variant
rs10172342 -- 203,160,665(+) agcca(A/G)tctgg intron-variant

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)

Relevant External Links for NBEAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBEAL1

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

Disorders for NBEAL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBEAL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
ovary serous adenocarcinoma
  • malignant ovarian serous tumor
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NBEAL1

Genetic Association Database (GAD)
NBEAL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. Mol. Brain Res. 2004) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3 64

Products for NBEAL1 Gene

Sources for NBEAL1 Gene

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