BEAN1 brain expressed, associated with NEDD4, 1 [Homo sapiens] - Gene

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Summary

Official Symbol: BEAN1provided by HGNC
Official Full Name: brain expressed, associated with NEDD4, 1provided by HGNC
Primary source: 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]

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Genomic context

Location :: 16q21

Sequence :: Chromosome: 16; NC_000016.9 (66460816..66527432)

See BEAN1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:126974	BioGRID:247522	Nedd4		BioGRID	PubMed	Biochemical Activity; Reconstituted Complex

Process	Evidence Code	Pubs
cell death	IEA Inferred from Electronic Annotation more info

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

General protein information

Preferred Names: protein BEAN1

Names: protein BEAN1; brain-expressed protein associating with Nedd4 homolog

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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

NG_021403.1 RefSeqGene

Range

5385..60930

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001136106.4 → NP_001129578.1 protein BEAN1 isoform 2

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

UniProtKB/Swiss-Prot

Q3B7T3

Related

ENSP00000299694, OTTHUMP00000250343, ENST00000299694, OTTHUMT00000422910
NM_001178020.2 → NP_001171491.1 protein BEAN1 isoform 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, OTTHUMP00000250341, ENST00000536005, OTTHUMT00000422908
NM_001197224.2 → NP_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
NM_001197225.2 → NP_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

UniProtKB/TrEMBL

H3BP97

Related

ENSP00000455212, OTTHUMP00000250345, ENST00000561796, OTTHUMT00000422912

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

66460816..66527432

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

52336808..52403356

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC132186.3 (99093..155213)	None
genomic	CH471092.1	EAW83011.1
mRNA	AB472390.1	None
mRNA	AB472391.1	None
mRNA	AB472392.1	None
mRNA	AB472393.1	None
mRNA	AB472394.1	None
mRNA	AB472395.1	None
mRNA	AB472396.1	None
mRNA	AB472398.1	None
mRNA	AB472399.1	None
mRNA	AF070610.1	None
mRNA	AK056142.1	BAG51632.1
mRNA	BC000818.1	None
mRNA	BC105723.1	None
mRNA	BC105724.1	None
mRNA	BC107477.1	AAI07478.1
mRNA	BM666201.1	None