Human Gene NBEAL1 (uc002uzt.3) Description and Page Index
  Description: Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:203,879,602-204,082,717 Size: 203,116 Total Exon Count: 55 Strand: +
Coding Region
   Position: hg19 chr2:203,881,108-204,082,077 Size: 200,970 Coding Exon Count: 54 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:203,879,602-204,082,717)mRNA (may differ from genome)Protein (2694 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
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;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NBEAL1
CDC HuGE Published Literature: NBEAL1
Positive Disease Associations: Alcoholism
Related Studies:
  1. Alcoholism
    , , . [PubMed 0]

-  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

+  Common Gene Haplotype Alleles
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-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.71333-0.290 Picture PostScript Text
3' UTR -134.50640-0.210 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:
PF00400 - WD domain, G-beta repeat
PF02138 - Beige/BEACH domain
PF14844 - PH domain associated with Beige/BEACH
PF15787 - Domain of unknown function (DUF4704)
PF16057 - Domain of unknown function (DUF4800)

SCOP Domains:
48371 - ARM repeat
81837 - BEACH domain
50729 - PH domain-like
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q6ZS30
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
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
   Protein Sequence  

-  Descriptions from all associated GenBank mRNAs
  AK130065 - Homo sapiens cDNA FLJ26555 fis, clone LNF01917.
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.
BX647133 - Homo sapiens mRNA; cDNA DKFZp686L12166 (from clone DKFZp686L12166).
AB053319 - Homo sapiens ALS2CR17 mRNA, partial cds.
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.
JD021085 - Sequence 2109 from Patent EP1572962.
JD024760 - Sequence 5784 from Patent EP1572962.
JD112772 - Sequence 93796 from Patent EP1572962.
AK026491 - Homo sapiens cDNA: FLJ22838 fis, clone KAIA4494, highly similar to HUML12A Human ribosomal protein L12 mRNA.
JD355038 - Sequence 336062 from Patent EP1572962.
JD380287 - Sequence 361311 from Patent EP1572962.
JD059442 - Sequence 40466 from Patent EP1572962.
JD422235 - Sequence 403259 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NHD5, ALS2CR16, ALS2CR17, NBEL1_HUMAN, NM_001114132, NP_001107604, Q6Y876, Q6ZP36, Q6ZQY5, Q6ZS30, Q8N8R4, Q96Q30, Q96Q31
UCSC ID: uc002uzt.3
RefSeq Accession: NM_001114132
Protein: Q6ZS30 (aka NBEL1_HUMAN)
CCDS: CCDS46495.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001114132.1
exon count: 55CDS single in 3' UTR: no RNA size: 9058
ORF size: 8085CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 16177.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 644# strange splices: 0
Click here for a detailed description of the fields of the table above.

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