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
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
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
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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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: PF02138 - Beige/BEACH domain
PF00400 - WD domain, G-beta repeat
ModBase Predicted Comparative 3D Structure on Q6ZS30
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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
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.4UCSC ID: ENST00000449802.5RefSeq Accession: NM_001114132
Protein: Q6ZS30
(aka NBEL1_HUMAN)
CCDS: CCDS46495.1
Methods, Credits, and Use Restrictions
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