DUFMech

All families / PF06469

PF06469: DUF1088

Neurobeachin-like, DUF1088

Curation status
SEEDED
Seed status
KNOWN HISTORICAL DUF
Characterization
UNSCORED

Grounding

PF06469: Neurobeachin-like, DUF1088
IPR010508: integrated entry for Neurobeachin-like, DUF1088

Source description

This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs). NBEAS are localised near Golgi apparatus and is involved in vesicular trafficking, intracellular transport, membrane dynamics, endosomal recycling, and receptor signalling. BDCPs are associated with lysosome size, apoptosis, autophagy, granule size, or synapse formation. Mutations in this domain have been related to autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency, responsible for common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS) [InterPro reference PUB00098183]. NBEAs deficiency may induce spine loss with defects in synaptic efficacy and plasticity, being associated with autism spectrum disorder (ASD) and ASD-related syndromes [InterPro reference PUB00098182].

Evidence and references

Source descriptions and links are provenance, not independent functional validation.

Evidence counts: not scored.

Curated functional assertions

No curated functional assertions supplied.

Protein sequence examples

3 verified sequence examples. FASTA

UniProtProtein / organismSequenceProvenance
P50851Lipopolysaccharide-responsive and beige-like anchor protein
Homo sapiens		2863 aa; version 4
UniProt 2026_03		PTM REGISTRY MIRROR
6 sibling references
Q8NFP9Neurobeachin
Homo sapiens		2946 aa; version 3
UniProt 2026_03		UNIPROT FETCH
4 sibling references
Q9W4E2Neurobeachin
Drosophila melanogaster		3466 aa; version 4
UniProt 2026_03		UNIPROT FETCH
1 sibling references

Pfam membership is not functional evidence. Whole-protein sequences do not establish domain boundaries. A coverage gap here is not absence from UniProt.

Sequences and metadata: UniProt Consortium, CC BY 4.0.

Domain matches

No residue-level domain match evidence is available in this build. Structure and AlphaFold counters do not supply coordinates or establish function.

Snapshot counters

proteins
4,966
matches
4,996
proteomes
1,181
taxa
3,860
structures
0
alphafold models
517
domain architectures
84

Classification basis

short name matches duf

No scoring reasons supplied.

Related Mech records

FamilyMechRecordProteinLink basis
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin-like, DUF1088
trait identifier
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin-like, DUF1088P50851
Lipopolysaccharide-responsive and beige-like anchor protein		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin-like, DUF1088Q8NFP9
Neurobeachin		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin-like, DUF1088Q9W4E2
Neurobeachin		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin-like, DUF1088
trait identifier
DUF1088 (PF06469)ProteinTraitsMechBeige/BEACH domainP50851
Lipopolysaccharide-responsive and beige-like anchor protein		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin/BDCP, DUF4704 alpha solenoid regionP50851
Lipopolysaccharide-responsive and beige-like anchor protein		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin/BDCP, DUF4704 alpha solenoid regionQ8NFP9
Neurobeachin		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin beta propeller domainP50851
Lipopolysaccharide-responsive and beige-like anchor protein		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin beta propeller domainQ8NFP9
Neurobeachin		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin alpha solenoid regionP50851
Lipopolysaccharide-responsive and beige-like anchor protein		canonical example family classification
DUF1088 (PF06469)ProteinTraitsMechNeurobeachin alpha solenoid regionQ8NFP9
Neurobeachin		canonical example family classification

Curation history and reviews

No retained curation events supplied.

No retained review supplied.

Record source

data/families/PF06469.yaml
Family YAML in this build

Download this family (JSON)

Status and evidence

Seed status
A name-based classification of frozen InterPro/Pfam metadata. UNKNOWN CANDIDATE means the metadata explicitly says the function is unknown. KNOWN HISTORICAL DUF means a DUF name matched without that wording; this heuristic is not proof of a known function and does not establish experimental characterization. EX DUF means Pfam renamed the family away from a DUF/UPF name, as recorded in Pfam's previous identifiers; a rename usually follows published work on some members but is naming history, not proof of function for every member. Some EX DUF families' current names or descriptions still say the function is unknown; their classification basis lists this, and scoring does not treat them as characterized. FALSE POSITIVE TEXT HIT means the naming rules did not match.
Characterization
A separate evidence-scoring result. UNSCORED means no score has been calculated; it is not evidence that the family lacks a known function. Missing scores are not negative evidence. PARTIALLY CHARACTERIZED has partial support; KNOWN HISTORICAL DUF can inherit the seed label or reflect a known-function signal. Neither label implies experimental validation.
Evidence counts
Source-specific signals, not unique proteins, publications, or confidence scores. Known counts Rhea reactions and experimentally supported GO molecular-function annotations. Partial counts functional/domain assignments. Context counts structural, environmental, orthology, interaction and neighborhood signals; context alone does not assign function. Repeated annotations may not be independent.
Curation status
Reported separately from seed classification and characterization. SNAPSHOT ONLY means no curated metadata was supplied for this build. SEEDED denotes a source-derived record, not an expert-reviewed functional claim.
Missing counts
Not available means the source did not supply that counter. A zero is a reported count. Not scored means evidence counts are unavailable.