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: +
Position: hg19 chr2:203,881,108-204,082,077 Size: 200,970 Coding Exon Count: 54
Data last updated: 2013-06-14
Sequence and Links to Tools and Databases
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
Alcoholism , , .
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
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.
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
(aka NBEL1_HUMAN) Q6ZS30
Gene Model Information
55 CDS single in 3' UTR:
8085 CDS single in intron:
Alignment % ID:
16177.50 frame shift in genome:
has start codon:
stop codon in genome:
# of Alignments:
has end codon:
# AT/AC introns
end bleed into intron:
644 # strange splices:
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.