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NBEA neurobeachin [ Homo sapiens (human) ]

Gene ID: 26960, updated on 5-Aug-2018

Summary

Official Symbol
NBEAprovided by HGNC
Official Full Name
neurobeachinprovided by HGNC
Primary source
HGNC:HGNC:7648
See related
Ensembl:ENSG00000172915 MIM:604889; Vega:OTTHUMG00000016724
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCL8B; LYST2
Summary
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
Expression
Broad expression in brain (RPKM 8.2), thyroid (RPKM 2.8) and 20 other tissues See more
Orthologs

Genomic context

See NBEA in Genome Data Viewer
Location:
13q13.3
Exon count:
63
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (34942287..35672737)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (35516424..36246874)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370159 Neighboring gene uncharacterized LOC107987189 Neighboring gene VISTA enhancer hs1330 Neighboring gene SCAN domain containing 3 pseudogene 1 Neighboring gene prohibitin pseudogene 13 Neighboring gene mab-21 like 1 repeat instability region Neighboring gene VISTA enhancer hs1333 Neighboring gene mab-21 like 1 Neighboring gene uncharacterized LOC105370161 Neighboring gene long intergenic non-protein coding RNA 445

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and the control of HIV-1 in humans.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein localization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
endomembrane system ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
neurobeachin
Names
lysosomal-trafficking regulator 2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_028156.1 RefSeqGene

    Range
    5001..735451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204197.1NP_001191126.1  neurobeachin isoform 2

    See identical proteins and their annotated locations for NP_001191126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a novel 5' UTR, lacks multiple 5' coding exons, and uses a downstream in-frame start codon, compared to variant 1. Variant 2 encodes a shorter protein (isoform 2) that lacks a neurobeachin pleckstrin homology-like domain and DUF1088 domain, compared to isoform 1.
    Source sequence(s)
    AB046764, AK294737, AL137748, BU736721
    Consensus CDS
    CCDS55894.1
    UniProtKB/Swiss-Prot
    Q8NFP9
    Related
    ENSP00000440233.1, ENST00000537702.5
    Conserved Domains (4) summary
    sd00039
    Location:517571
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:80356
    Beach; Beige/BEACH domain
    cl17171
    Location:248
    PH-like; Pleckstrin homology-like domain
    cl25539
    Location:470727
    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_015678.4NP_056493.3  neurobeachin isoform 1

    See identical proteins and their annotated locations for NP_056493.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF467288, AK001059, AK127791, AL137748, DA248291
    Consensus CDS
    CCDS45026.1
    UniProtKB/Swiss-Prot
    Q8NFP9
    UniProtKB/TrEMBL
    B3KXQ8
    Related
    ENSP00000383295.3, ENST00000400445.7
    Conserved Domains (7) summary
    sd00039
    Location:27242778
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:22872563
    Beach; Beige/BEACH domain
    pfam06469
    Location:19662132
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21582255
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    cl25539
    Location:26772934
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    34942287..35672737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266347.4XP_005266404.2  neurobeachin isoform X1

    Conserved Domains (8) summary
    COG2319
    Location:26562955
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22872584
    Beach; Beige/BEACH domain
    pfam06469
    Location:19662132
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21582255
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:27452799
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26982955
    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 ...
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  2. XM_006719803.3XP_006719866.1  neurobeachin isoform X3

    Conserved Domains (8) summary
    COG2319
    Location:26512950
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22872584
    Beach; Beige/BEACH domain
    pfam06469
    Location:19662132
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21582255
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:27402794
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26932950
    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 ...
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  3. XM_005266346.4XP_005266403.1  neurobeachin isoform X6

    Conserved Domains (8) summary
    COG2319
    Location:26302929
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22872563
    Beach; Beige/BEACH domain
    pfam06469
    Location:19662132
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21582255
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:27192773
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26722929
    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 ...
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  4. XM_017020544.1XP_016876033.1  neurobeachin isoform X4

  5. XM_017020545.1XP_016876034.1  neurobeachin isoform X7

  6. XM_005266348.4XP_005266405.2  neurobeachin isoform X2

    Conserved Domains (8) summary
    COG2319
    Location:26532952
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22842581
    Beach; Beige/BEACH domain
    pfam06469
    Location:19632129
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21552252
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:27422796
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26952952
    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 ...
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  7. XM_006719806.3XP_006719869.1  neurobeachin isoform X5

    See identical proteins and their annotated locations for XP_006719869.1

    UniProtKB/TrEMBL
    Q5T321
    Related
    ENSP00000369271.1, OTTHUMP00000018239, ENST00000379939.6, OTTHUMT00000044460
    Conserved Domains (7) summary
    sd00039
    Location:27212775
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:22842560
    Beach; Beige/BEACH domain
    pfam06469
    Location:19632129
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21552252
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    cl25539
    Location:26742931
    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_006719805.3XP_006719868.1  neurobeachin isoform X12

    Conserved Domains (8) summary
    COG2319
    Location:26272926
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22842560
    Beach; Beige/BEACH domain
    pfam06469
    Location:19632129
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21552252
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:27162770
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26692926
    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 ...
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  9. XM_011535047.2XP_011533349.1  neurobeachin isoform X11

    Conserved Domains (5) summary
    pfam02138
    Location:22872392
    Beach; Beige/BEACH domain
    pfam06469
    Location:19662132
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:21582255
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:472743
    DUF4704; Domain of unknown function (DUF4704)
    cl22861
    Location:255402
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  10. XM_017020546.1XP_016876035.1  neurobeachin isoform X8

  11. XM_011535046.2XP_011533348.1  neurobeachin isoform X10

    Conserved Domains (7) summary
    COG2319
    Location:21772476
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:18082105
    Beach; Beige/BEACH domain
    pfam06469
    Location:14871653
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:16791776
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:42264
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:22662320
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:22192476
    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 ...
  12. XM_024449338.1XP_024305106.1  neurobeachin isoform X9

    Conserved Domains (6) summary
    sd00039
    Location:22832337
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:18252122
    Beach; Beige/BEACH domain
    pfam06469
    Location:15041670
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:16961793
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:59281
    DUF4704; Domain of unknown function (DUF4704)
    cl25539
    Location:22362493
    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 ...
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