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NBEAL1 neurobeachin like 1 [ Homo sapiens (human) ]

Gene ID: 65065, updated on 3-Apr-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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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

    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

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

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

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

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

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

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

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

  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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