sel-2 BEACH domain-containing protein;Putative neurobeachin homolog [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: sel-2
Official Full Name: BEACH domain-containing protein;Putative neurobeachin homolog
Primary source: WormBase:WBGene00004760
Locus tag: CELE_F10F2.1
See related: AllianceGenome:WB:WBGene00004760
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Predicted to enable protein kinase binding activity. Involved in several processes, including apical protein localization; negative regulation of Notch signaling pathway; and regulation of vulval development. Located in perinuclear region of cytoplasm. Is expressed in several structures, including P3.p hermaphrodite; ganglia; rectum; somatic nervous system; and vulva. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in common variable immunodeficiency 8. Orthologous to human LRBA (LPS responsive beige-like anchor protein) and NBEA (neurobeachin). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See sel-2 in Genome Data Viewer

Location:: chromosome: III

Exon count:: 33

Sequence:: Chromosome: III; NC_003281.10 (4596059..4612384, complement)

Chromosome III - NC_003281.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003281.10

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

sel-2 is involved in endosomal traffic and may be involved in efficient delivery of cell surface proteins to the lysosome.
Title: SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

F35G12.6 (e-PCR)
- UniSTS:314227

STS3-23 (e-PCR)
- UniSTS:242072

F10F2.1 (e-PCR)
- UniSTS:309662

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of vulval development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
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
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BEACH domain-containing protein;Putative neurobeachin homolog

NP_001379017.1

Confirmed by transcript evidence

NP_497939.2

Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_003281.10 Reference assembly

Range

4596059..4612384 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_065538.6 → NP_497939.2 Putative neurobeachin homolog [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_497939.2

Status: REVIEWED

UniProtKB/Swiss-Prot

K8ESP0, Q19317, Q20061

Conserved Domains (8) summary

COG2319
Location:2233 → 2489

WD40; WD40 repeat [General function prediction only]

pfam02138
Location:1831 → 2106

Beach; Beige/BEACH domain

pfam06469
Location:1513 → 1677

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:1701 → 1798

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:544 → 820

DUF4704; Domain of unknown function (DUF4704)

sd00039
Location:2227 → 2265

7WD40; WD40 repeat [structural motif]

cl02567
Location:2235 → 2479

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:328 → 474

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 ...
NM_001393323.1 → NP_001379017.1 BEACH domain-containing protein [Caenorhabditis elegans]

Status: REVIEWED

UniProtKB/TrEMBL

A0A5S9MNR4

Conserved Domains (7) summary

sd00039
Location:2283 → 2321

7WD40; WD40 repeat [structural motif]

pfam02138
Location:1887 → 2162

Beach; Beige/BEACH domain

pfam06469
Location:1569 → 1733

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:1757 → 1854

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:605 → 870

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:384 → 530

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 ...

cl29593
Location:2291 → 2535

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 ...