Human Gene NBEAL1 (ENST00000449802.5) from GENCODE V44
  Description: Homo sapiens neurobeachin like 1 (NBEAL1), transcript variant 1, mRNA. (from RefSeq NM_001114132)
Gencode Transcript: ENST00000449802.5
Gencode Gene: ENSG00000144426.19
Transcript (Including UTRs)
   Position: hg38 chr2:203,014,879-203,219,874 Size: 204,996 Total Exon Count: 55 Strand: +
Coding Region
   Position: hg38 chr2:203,016,385-203,217,354 Size: 200,970 Coding Exon Count: 54 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:203,014,879-203,219,874)mRNA (may differ from genome)Protein (2694 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NBEL1_HUMAN
DESCRIPTION: RecName: Full=Neurobeachin-like protein 1; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein;
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.
SIMILARITY: Belongs to the WD repeat neurobeachin family.
SIMILARITY: Contains 1 BEACH domain.
SIMILARITY: Contains 2 WD repeats.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NBEAL1
Diseases sorted by gene-association score: lateral sclerosis (3), ovary serous adenocarcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.75 RPKM in Artery - Tibial
Total median expression: 49.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.70333-0.278 Picture PostScript Text
3' UTR -580.602520-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016024 - ARM-type_fold
IPR000409 - BEACH_dom
IPR008985 - ConA-like_lec_gl_sf
IPR023362 - PH-BEACH_dom
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF02138 - Beige/BEACH domain
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q6ZS30
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Descriptions from all associated GenBank mRNAs
  AK096293 - Homo sapiens cDNA FLJ38974 fis, clone NT2RI2003667.
BC132950 - Homo sapiens neurobeachin-like 1, mRNA (cDNA clone IMAGE:40146972), complete cds.
BC137214 - Homo sapiens neurobeachin-like 1, mRNA (cDNA clone IMAGE:9021211), complete cds.
BC144532 - Homo sapiens cDNA clone IMAGE:9053059.
BC144533 - Homo sapiens cDNA clone IMAGE:9053060.
AB053318 - Homo sapiens ALS2CR16 mRNA, complete cds.
AK127772 - Homo sapiens cDNA FLJ45873 fis, clone OCBBF3006986, weakly similar to CDC4-like protein.
BC166673 - Synthetic construct Homo sapiens clone IMAGE:100066399, MGC:195536 neurobeachin-like 1 (NBEAL1) mRNA, encodes complete protein.
AY172970 - Homo sapiens beach protein mRNA, complete cds.
AK128636 - Homo sapiens cDNA FLJ46795 fis, clone TRACH3030176, weakly similar to CDC4-like protein.
AK130065 - Homo sapiens cDNA FLJ26555 fis, clone LNF01917.
JD021085 - Sequence 2109 from Patent EP1572962.
JD024760 - Sequence 5784 from Patent EP1572962.
JD112772 - Sequence 93796 from Patent EP1572962.
BX647133 - Homo sapiens mRNA; cDNA DKFZp686L12166 (from clone DKFZp686L12166).
AK026491 - Homo sapiens cDNA: FLJ22838 fis, clone KAIA4494, highly similar to HUML12A Human ribosomal protein L12 mRNA.
AB053319 - Homo sapiens ALS2CR17 mRNA, partial cds.
JD355038 - Sequence 336062 from Patent EP1572962.
JD380287 - Sequence 361311 from Patent EP1572962.
JD059442 - Sequence 40466 from Patent EP1572962.
JD422235 - Sequence 403259 from Patent EP1572962.
JD255682 - Sequence 236706 from Patent EP1572962.
JD482628 - Sequence 463652 from Patent EP1572962.
JD208254 - Sequence 189278 from Patent EP1572962.
JD369144 - Sequence 350168 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NHD5, ALS2CR16, ALS2CR17, ENST00000449802.1, ENST00000449802.2, ENST00000449802.3, ENST00000449802.4, NBEL1_HUMAN, NM_001114132, Q6Y876, Q6ZP36, Q6ZQY5, Q6ZS30, Q8N8R4, Q96Q30, Q96Q31, uc002uzt.1, uc002uzt.2, uc002uzt.3, uc002uzt.4
UCSC ID: ENST00000449802.5
RefSeq Accession: NM_001114132
Protein: Q6ZS30 (aka NBEL1_HUMAN)
CCDS: CCDS46495.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.