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BEAN1 brain expressed associated with NEDD4 1 [ Homo sapiens (human) ]

Gene ID: 146227, updated on 17-Aug-2018

Summary

Official Symbol
BEAN1provided by HGNC
Official Full Name
brain expressed associated with NEDD4 1provided by HGNC
Primary source
HGNC:HGNC:24160
See related
Ensembl:ENSG00000166546 MIM:612051; Vega:OTTHUMG00000173370
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
BEAN; SCA31
Summary
The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See BEAN1 in Genome Data Viewer
Location:
16q21
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (66427297..66495288)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66461200..66527432)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371318 Neighboring gene cadherin 5 Neighboring gene long intergenic non-protein coding RNA 920 Neighboring gene nuclear envelope phosphatase-regulatory subunit 1 pseudogene Neighboring gene BEAN1 antisense RNA 1 Neighboring gene thymidine kinase 2, mitochondrial Neighboring gene CKLF-CMTM1 readthrough Neighboring gene chemokine like factor

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ27243

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein BEAN1
Names
brain-expressed protein associating with Nedd4 homolog

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_021403.2 RefSeqGene

    Range
    5385..60930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136106.4NP_001129578.1  protein BEAN1 isoform 2

    See identical proteins and their annotated locations for NP_001129578.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AB472391, AB472395, BC105723, BM666201
    Consensus CDS
    CCDS58469.1
    UniProtKB/Swiss-Prot
    Q3B7T3
    Related
    ENSP00000299694.8, OTTHUMP00000250343, ENST00000299694.12, OTTHUMT00000422910
  2. NM_001178020.2NP_001171491.1  protein BEAN1 isoform 1

    See identical proteins and their annotated locations for NP_001171491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB472390, AB472395, BC105723, BM666201
    Consensus CDS
    CCDS54015.1
    UniProtKB/Swiss-Prot
    Q3B7T3
    Related
    ENSP00000442793.2, OTTHUMP00000250341, ENST00000536005.6, OTTHUMT00000422908
    Conserved Domains (1) summary
    pfam15293
    Location:113207
    NUFIP2; Nuclear fragile X mental retardation-interacting protein 2
  3. NM_001197224.3NP_001184153.1  protein BEAN1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and contains alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB472392, AB472395, AC010542
  4. NM_001197225.3NP_001184154.1  protein BEAN1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and contains alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB472392, AB472395, AB472396, AC010542
    Consensus CDS
    CCDS58470.1
    UniProtKB/Swiss-Prot
    Q3B7T3
    Related
    ENSP00000455212.1, OTTHUMP00000250345, ENST00000561796.5, OTTHUMT00000422912

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_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    66427297..66495288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    66483055..66486282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522890.1XP_011521192.1  protein BEAN1 isoform X3

    See identical proteins and their annotated locations for XP_011521192.1

    UniProtKB/Swiss-Prot
    Q3B7T3
  2. XM_011522884.1XP_011521186.1  protein BEAN1 isoform X1

    See identical proteins and their annotated locations for XP_011521186.1

    UniProtKB/Swiss-Prot
    Q3B7T3
    Conserved Domains (1) summary
    pfam15293
    Location:113207
    NUFIP2; Nuclear fragile X mental retardation-interacting protein 2
  3. XM_011522888.1XP_011521190.1  protein BEAN1 isoform X3

    See identical proteins and their annotated locations for XP_011521190.1

    UniProtKB/Swiss-Prot
    Q3B7T3
  4. XM_011522889.1XP_011521191.1  protein BEAN1 isoform X3

    See identical proteins and their annotated locations for XP_011521191.1

    UniProtKB/Swiss-Prot
    Q3B7T3
  5. XM_011522891.1XP_011521193.1  protein BEAN1 isoform X3

    See identical proteins and their annotated locations for XP_011521193.1

    UniProtKB/Swiss-Prot
    Q3B7T3
  6. XM_011522883.1XP_011521185.1  protein BEAN1 isoform X1

    See identical proteins and their annotated locations for XP_011521185.1

    UniProtKB/Swiss-Prot
    Q3B7T3
    Conserved Domains (1) summary
    pfam15293
    Location:113207
    NUFIP2; Nuclear fragile X mental retardation-interacting protein 2
  7. XM_011522894.2XP_011521196.1  protein BEAN1 isoform X4

  8. XM_011522892.2XP_011521194.1  protein BEAN1 isoform X3

    See identical proteins and their annotated locations for XP_011521194.1

    UniProtKB/Swiss-Prot
    Q3B7T3
  9. XM_011522885.3XP_011521187.1  protein BEAN1 isoform X2

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