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NBEAL1 neurobeachin like 1 [ Homo sapiens (human) ]

Gene ID: 65065, updated on 15-Jun-2019

Summary

Official Symbol
NBEAL1provided by HGNC
Official Full Name
neurobeachin like 1provided by HGNC
Primary source
HGNC:HGNC:20681
See related
Ensembl:ENSG00000144426 MIM:609816
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
Expression
Ubiquitous expression in ovary (RPKM 12.9), colon (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See NBEAL1 in Genome Data Viewer
Location:
2q33.2
Exon count:
61
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (203013784..203225194)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203879597..204091101)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene Neighboring gene calcium responsive transcription factor Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene zinc finger protein 670 pseudogene Neighboring gene ribosomal protein L7 pseudogene 14 Neighboring gene ribosomal protein L23a pseudogene 36 Neighboring gene ribosomal protein L12 pseudogene 16 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

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 Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22838, FLJ26555, MGC164581, MGC168834

General protein information

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)

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_001114132.1NP_001107604.1  neurobeachin-like protein 1

    See identical proteins and their annotated locations for NP_001107604.1

    Status: VALIDATED

    Source sequence(s)
    AC011737, AC023271, AK127772, AK128636, AW028696, AW809287, CV310362, DA701100, DR731376, DV080127, DV080228, DV080354, DV080456
    Consensus CDS
    CCDS46495.1
    UniProtKB/Swiss-Prot
    Q6ZS30
    Related
    ENSP00000399903.1, ENST00000449802.5
    Conserved Domains (7) summary
    COG2319
    Location:23612653
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:18861983
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20052284
    Beach; Beige/BEACH domain
    pfam15787
    Location:8591119
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:15801833
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:24062439
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24092682
    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

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    203013784..203225194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511658.3XP_011509960.1  neurobeachin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011509960.1

    Conserved Domains (7) summary
    COG2319
    Location:23902699
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:19152012
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20342313
    Beach; Beige/BEACH domain
    pfam15787
    Location:8881148
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:16091862
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:24352468
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24382682
    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_006712699.4XP_006712762.1  neurobeachin-like protein 1 isoform X2

    Conserved Domains (7) summary
    COG2319
    Location:23902682
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:19152012
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20342313
    Beach; Beige/BEACH domain
    pfam15787
    Location:8881148
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:16091862
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:24352468
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24382711
    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 ...
  3. XM_006712698.4XP_006712761.1  neurobeachin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006712761.1

    Conserved Domains (7) summary
    COG2319
    Location:23902699
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:19152012
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20342313
    Beach; Beige/BEACH domain
    pfam15787
    Location:8881148
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:16091862
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:24352468
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24382682
    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_005246787.4XP_005246844.1  neurobeachin-like protein 1 isoform X3

    Conserved Domains (7) summary
    COG2319
    Location:23612670
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:18861983
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20052284
    Beach; Beige/BEACH domain
    pfam15787
    Location:8591119
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:15801833
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:24062439
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24092653
    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_011511663.3XP_011509965.1  neurobeachin-like protein 1 isoform X6

    Conserved Domains (4) summary
    cd01201
    Location:19152012
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20342316
    Beach; Beige/BEACH domain
    pfam15787
    Location:8881148
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:16091862
    DUF4800; Domain of unknown function (DUF4800)
  6. XM_011511659.2XP_011509961.1  neurobeachin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011509961.1

    Conserved Domains (7) summary
    COG2319
    Location:23902699
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:19152012
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:20342313
    Beach; Beige/BEACH domain
    pfam15787
    Location:8881148
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:16091862
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:24352468
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:24382682
    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_011511660.2XP_011509962.1  neurobeachin-like protein 1 isoform X4

    Conserved Domains (7) summary
    COG2319
    Location:22522561
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:17771874
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:18962175
    Beach; Beige/BEACH domain
    pfam15787
    Location:7501010
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:14711724
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:22972330
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:23002544
    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_011511662.2XP_011509964.1  neurobeachin-like protein 1 isoform X5

    Conserved Domains (7) summary
    COG2319
    Location:20412350
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:15661663
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:16851964
    Beach; Beige/BEACH domain
    pfam15787
    Location:539799
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:12601513
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:20862119
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:20892333
    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_005246788.2XP_005246845.1  neurobeachin-like protein 1 isoform X7

    Conserved Domains (6) summary
    COG2319
    Location:12781587
    WD40; WD40 repeat [General function prediction only]
    cd01201
    Location:803900
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:9221201
    Beach; Beige/BEACH domain
    pfam16057
    Location:497750
    DUF4800; Domain of unknown function (DUF4800)
    sd00039
    Location:13231356
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:13261570
    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_017004729.1XP_016860218.1  neurobeachin-like protein 1 isoform X8

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.
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