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    NBEAL1 neurobeachin like 1 [ Homo sapiens (human) ]

    Gene ID: 65065, updated on 17-Jun-2024

    Summary

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    Official Symbol
    NBEAL1provided by HGNC
    Official Full Name
    neurobeachin like 1provided by HGNC
    Primary source
    HGNC:HGNC:20681
    See related
    Ensembl:ENSG00000144426 MIM:609816; AllianceGenome:HGNC:20681
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALS2CR16; ALS2CR17; A530083I02Rik
    Summary
    Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 12.9), colon (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NBEAL1 in Genome Data Viewer
    Location:
    2q33.2
    Exon count:
    61
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (203014608..203225194)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203493127..203706697)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203879598..204089917)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:203790595-203791095 Neighboring gene keratin 8 pseudogene 52 Neighboring gene calcium responsive transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17008 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:203853358-203853583 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:203879278-203879831 Neighboring gene Sharpr-MPRA regulatory region 6032 Neighboring gene small nucleolar RNA SNORA1 Neighboring gene zinc finger protein 670 pseudogene Neighboring gene ribosomal protein L7 pseudogene 14 Neighboring gene ribosomal protein L23a pseudogene 36 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:203975480-203975646 Neighboring gene ribosomal protein L12 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12253 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:204103777-204104348 Neighboring gene cytochrome P450 family 20 subfamily A member 1 Neighboring gene RNA, 7SL, cytoplasmic 670, pseudogene Neighboring gene mitochondrial ribosomal protein L50 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Chen J, et al. Brain Res Mol Brain Res, 2004 Jun 18. PMID 15193433
    2. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano S, et al. Nat Genet, 2001 Oct. PMID 11586298
    3. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
    4. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. isolation of human neurobeachin-like 1 (NBEAL1); highly expressed in the brain, kidney, prostate, and testis, and in biopsies of different grade glioma [NBEAL1]
      Title: Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22838, FLJ26555, MGC164581, MGC168834

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    neurobeachin-like protein 1
    Names
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein
    beach

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001114132.2 → NP_001107604.1  neurobeachin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001107604.1

      Status: VALIDATED

      Source sequence(s)
      AC011737, AC023271
      Consensus CDS
      CCDS46495.1
      UniProtKB/Swiss-Prot
      A6NHD5, Q6Y876, Q6ZP36, Q6ZQY5, Q6ZS30, Q8N8R4, Q96Q30, Q96Q31
      UniProtKB/TrEMBL
      A0A804HJ72
      Related
      ENSP00000399903.1, ENST00000449802.5
      Conserved Domains (6) summary
      smart01026
      Location:2004 → 2284
      Beach; Beige/BEACH domain
      cd01201
      Location:1886 → 1983
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      sd00039
      Location:2406 → 2439
      7WD40; WD40 repeat [structural motif]
      pfam15787
      Location:859 → 1123
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1580 → 1833
      DUF4800; Domain of unknown function (DUF4800)
      cl29593
      Location:2409 → 2682
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001378026.1 → NP_001364955.1  neurobeachin-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC011737, AC023271
      Consensus CDS
      CCDS92930.1
      UniProtKB/TrEMBL
      A0A804HJ72, A0A804HKS6
      Related
      ENSP00000508055.1, ENST00000683969.1
      Conserved Domains (6) summary
      smart01026
      Location:2033 → 2313
      Beach; Beige/BEACH domain
      cd01201
      Location:1915 → 2012
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      sd00039
      Location:2435 → 2468
      7WD40; WD40 repeat [structural motif]
      pfam15787
      Location:888 → 1152
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1609 → 1862
      DUF4800; Domain of unknown function (DUF4800)
      cl29593
      Location:2438 → 2711
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      203014608..203225194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511658.4 → XP_011509960.1  neurobeachin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011509960.1

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (7) summary
      COG2319
      Location:2390 → 2699
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1915 → 2012
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2034 → 2313
      Beach; Beige/BEACH domain
      pfam15787
      Location:888 → 1148
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1609 → 1862
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2435 → 2468
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2438 → 2682
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_047445554.1 → XP_047301510.1  neurobeachin-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJ72
      Related
      ENSP00000507379.1, ENST00000682108.1

    3. XM_006712698.5 → XP_006712761.1  neurobeachin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006712761.1

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (7) summary
      COG2319
      Location:2390 → 2699
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1915 → 2012
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2034 → 2313
      Beach; Beige/BEACH domain
      pfam15787
      Location:888 → 1148
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1609 → 1862
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2435 → 2468
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2438 → 2682
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_005246787.5 → XP_005246844.1  neurobeachin-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (7) summary
      COG2319
      Location:2361 → 2670
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1886 → 1983
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2005 → 2284
      Beach; Beige/BEACH domain
      pfam15787
      Location:859 → 1119
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1580 → 1833
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2406 → 2439
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2409 → 2653
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_011511663.4 → XP_011509965.1  neurobeachin-like protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (4) summary
      cd01201
      Location:1915 → 2012
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2034 → 2316
      Beach; Beige/BEACH domain
      pfam15787
      Location:888 → 1148
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1609 → 1862
      DUF4800; Domain of unknown function (DUF4800)

    6. XM_011511659.3 → XP_011509961.1  neurobeachin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011509961.1

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (7) summary
      COG2319
      Location:2390 → 2699
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1915 → 2012
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2034 → 2313
      Beach; Beige/BEACH domain
      pfam15787
      Location:888 → 1148
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1609 → 1862
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2435 → 2468
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2438 → 2682
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    7. XM_011511660.3 → XP_011509962.1  neurobeachin-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (7) summary
      COG2319
      Location:2252 → 2561
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1777 → 1874
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:1896 → 2175
      Beach; Beige/BEACH domain
      pfam15787
      Location:750 → 1010
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1471 → 1724
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2297 → 2330
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2300 → 2544
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    8. XM_011511662.3 → XP_011509964.1  neurobeachin-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A804HJ72
      Conserved Domains (7) summary
      COG2319
      Location:2041 → 2350
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1566 → 1663
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:1685 → 1964
      Beach; Beige/BEACH domain
      pfam15787
      Location:539 → 799
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1260 → 1513
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2086 → 2119
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2089 → 2333
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    9. XM_005246788.3 → XP_005246845.1  neurobeachin-like protein 1 isoform X6

      Conserved Domains (6) summary
      COG2319
      Location:1278 → 1587
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:803 → 900
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:922 → 1201
      Beach; Beige/BEACH domain
      pfam16057
      Location:497 → 750
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:1323 → 1356
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:1326 → 1570
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    10. XM_017004729.2 → XP_016860218.1  neurobeachin-like protein 1 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      203493127..203706697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343455.1 → XP_054199430.1  neurobeachin-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HJ72

    2. XM_054343457.1 → XP_054199432.1  neurobeachin-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJ72

    3. XM_054343453.1 → XP_054199428.1  neurobeachin-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HJ72

    4. XM_054343456.1 → XP_054199431.1  neurobeachin-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJ72

    5. XM_054343460.1 → XP_054199435.1  neurobeachin-like protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A804HJ72

    6. XM_054343454.1 → XP_054199429.1  neurobeachin-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HJ72

    7. XM_054343458.1 → XP_054199433.1  neurobeachin-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A804HJ72

    8. XM_054343459.1 → XP_054199434.1  neurobeachin-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A804HJ72

    9. XM_054343461.1 → XP_054199436.1  neurobeachin-like protein 1 isoform X6

    10. XM_054343462.1 → XP_054199437.1  neurobeachin-like protein 1 isoform X7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099273.1: Suppressed sequence

      Description
      NM_001099273.1: This RefSeq was permanently suppressed because the CDS was partial.

    2. NM_198945.3: Suppressed sequence

      Description
      NM_198945.3: This RefSeq was temporarily suppressed because the CDS was partial.

    3. NM_205543.1: Suppressed sequence

      Description
      NM_205543.1: This RefSeq was permanently suppressed because it was derived from a chimeric sequence and the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZS30.3 GenPept UniProtKB/Swiss-Prot:Q6ZS30

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