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Aliases for NBEAL1 Gene

Aliases for NBEAL1 Gene

  • Neurobeachin-Like 1 2 3
  • ALS2CR17 3 4 6
  • 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
  • Neurobeachin-Like Protein 1 3
  • 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 and lateral sclerosis. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NBEAL1 Gene

Start:
203,014,874 bp from pter
End:
203,226,378 bp from pter
Size:
211,505 bases
Orientation:
Plus strand

Genomic View for NBEAL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for NBEAL1 Gene

Gene Families for NBEAL1 Gene

HGNC:
  • WDR :WD repeat domain containing

Suggested Antigen Peptide Sequences for NBEAL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZS30

UniProtKB/Swiss-Prot:

NBEL1_HUMAN :
  • Q6ZS30
Domain:
  • Contains 1 BEACH 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:0005488 binding --
GO:0005515 protein binding --
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

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 3
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

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

Pathways 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 for NBEAL1 Gene

Transcripts for NBEAL1 Gene

Unigene Clusters for NBEAL1 Gene

Neurobeachin-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBEAL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NBEAL1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 for NBEAL1 Gene

Integrated Proteomics: protein expression 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 expressions with NBEAL1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 92.03 (n)
  • 92.83 (a)
NBEAL1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NBEAL1 35
  • 92.5 (n)
  • 93.32 (a)
NBEAL1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nbeal1 35
  • 88.68 (n)
  • 90.4 (a)
Nbeal1 16
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 35
  • 64.42 (n)
  • 68.22 (a)
NBEAL1 36
  • 66 (a)
OneToOne
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

Selected 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 MAF
rs15843 -- 203,191,117(-) GTCGA(A/G/T)CAATG intron-variant
rs936721 -- 203,040,995(-) GATAA(G/T)GCAGG intron-variant
rs960843 -- 203,054,629(-) AAACA(A/C)TACAC intron-variant
rs960844 -- 203,054,879(-) CAAAA(A/G)ACAAC intron-variant
rs966229 -- 203,211,373(+) TAGTC(A/G)CTCCT 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

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

MalaCards: The human disease database. (2) Diseases for NBEAL1 Gene including...

Search for NBEAL1 Gene in MalaCards »

Relevant External Links for NBEAL1

Genetic Association Database (GAD)
NBEAL1
genes like me logo Genes that share disorders with NBEAL1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for NBEAL1 Gene

  • antibodies-online peptides for NBEAL1
  • antibodies-online antibodies for NBEAL1
  • antibodies-online kits for NBEAL1

Sources for NBEAL1 Gene

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