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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
  • Neurobeachin-Like 1 2 3
  • ALS2CR16 3 4
  • ALS2CR17 3 4
  • 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. GO annotations related to this gene include binding. An important paralog of this gene is WDFY3.

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

Promoters for NBEAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NBEAL1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for NBEAL1 Gene at MOPED

Post-translational modifications for NBEAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBEAL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

In Situ Assay 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

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

Pathways & Interactions for NBEAL1 Gene

SuperPathways for NBEAL1 Gene

No Data Available

Interacting Proteins for NBEAL1 Gene

Gene Ontology (GO) - Biological Process for NBEAL1 Gene

None

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

Unigene Clusters for NBEAL1 Gene

Neurobeachin-like 1:
Representative Sequences:

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 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, MOPED, and MaxQB for NBEAL1 Gene



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

In Situ Assay 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 35
  • 99.58 (n)
  • 99.41 (a)
NBEAL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NBEAL1 36
  • 93 (a)
OneToOne
NBEAL1 35
  • 92.03 (n)
  • 92.83 (a)
dog
(Canis familiaris)
Mammalia NBEAL1 35
  • 92.5 (n)
  • 93.32 (a)
NBEAL1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nbeal1 16
Nbeal1 35
  • 88.68 (n)
  • 90.4 (a)
Nbeal1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NBEAL1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NBEAL1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nbeal1 35
  • 87.24 (n)
  • 89.07 (a)
chicken
(Gallus gallus)
Aves NBEAL1 35
  • 77.3 (n)
  • 80.66 (a)
NBEAL1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NBEAL1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbeal1 35
  • 71.93 (n)
  • 74.57 (a)
Str.1558 35
zebrafish
(Danio rerio)
Actinopterygii NBEAL1 36
  • 66 (a)
OneToOne
nbeal1 35
  • 64.42 (n)
  • 68.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43367 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 36
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3870 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for NBEAL1:
  • 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
rs11258 -- 203,190,946(+) GGGCC(C/T)GAGGA intron-variant, utr-variant-3-prime
rs960843 -- 203,054,629(-) AAACA(A/C)TACAC intron-variant
rs960844 -- 203,054,879(-) CAAAA(A/G)ACAAC intron-variant
rs1122253 -- 203,072,452(-) gaaga(C/T)ttaga intron-variant
rs1122393 -- 203,070,841(+) TTTCC(C/T)ACCAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv875715 CNV Loss 21882294
esv2672568 CNV Deletion 23128226
esv2670801 CNV Deletion 23128226
dgv755e199 CNV Deletion 23128226
esv32794 CNV Loss 17666407
nsv819067 CNV Gain 19587683
nsv820773 CNV Deletion 20802225
esv2721370 CNV Deletion 23290073
nsv821877 CNV Gain 20364138
nsv821878 CNV Gain 20364138
esv27147 CNV Gain 19812545
esv2421527 CNV Deletion 20811451
nsv442846 CNV CNV 18776908
nsv514115 CNV Loss 21397061

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

HapMap Linkage Disequilibrium report
NBEAL1

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

Disorders for NBEAL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als, juvenile
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 23 67
  2. 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
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for NBEAL1 Gene

Sources for NBEAL1 Gene

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