Seroatlas · Human Serome Atlas

LLGL1

Lethal(2) giant larvae protein homolog 1

Also known as: DLG4, HUGL, HUGL-1, L2GL1_HUMAN, Lgl1, LLGL, Mgl1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q15334
Gene
LLGL1
Ensembl
ENSG00000131899
Chromosome
17
Canonical length
1064 aa
Protein class
Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1064 residues, UniProt reviewed canonical sequence.

>Q15334|LLGL1
     1  MMKFRFRRQG ADPQREKLKQ ELFAFNKTVE HGFPNQPSAL AFDPELRIMA IGTRSGAVKI
    61  YGAPGVEFTG LHRDAATVTQ MHFLTGQGRL LSLLDDSSLH LWEIVHHNGC AHLEEALSFQ
   121  LPSRPGFDGA SAPLSLTRVT VVLLVAASDI AALGTEGSSV FFLDVTTLTL LEGQTLAPGE
   181  VLRSVPDDYR CGKALGPVES LQGHLRDPTK ILIGYSRGLL VIWNQASQCV DHIFLGNQQL
   241  ESLCWGRDSS TVVSSHSDGS YAVWSVDAGS FPTLQPTVAT TPYGPFPCKA INKILWRNCE
   301  SGGHFIIFSG GMPRASYGDR HCVSVLRAET LVTLDFTSRI IDFFTVHSTR PEDEFDDPQA
   361  LAVLLEEELV VLDLQTPGWP AVPAPYLAPL HSSAITCSAH VASVPAKLWA RIVSAGEQQS
   421  PQPVSSALSW PITGGRNLAQ EPSQRGLLLT GHEDGTVRFW DASGVALRPL YKLSTAGLFQ
   481  TDCEHADSLA QAAEDDWPPF RKVGCFDPYS DDPRLGVQKV ALCKYTAQMV VAGTAGQVLV
   541  LELSDVPVEQ AVSVAIIDLL QDREGFTWKG HERLSPRTGP LPWPAGFQPR VLVQCLPPAA
   601  VTAVTLHTEW SLVAFGTSHG FGLFDYQRKS PVLARCTLHP NDSLAMEGPL SRVKSLKKSL
   661  RQSFRRIRKS RVSGKKRAAN ASSKLQEANA QLAEQACPHD VEMTPVQRRI EPRSADDSLS
   721  GVVRCLYFAD TFLRDGAHHG PTMWAGTNSG SVFAYALEVP AAAVGGEKRP EQAVEAVLGK
   781  EVQLMHRAPV VAIAVLDGRG RPLPEPYEAS RDLAQAPDMQ GGHAVLIASE EQFKVFTLPK
   841  VSAKTKFKLT AHEGCRVRKV ALATFASVAC EDYAETCLAC LTNLGDVHVF SVPGLRPQVH
   901  YSCIRKEDIS GIASCVFTRH GQGFYLISPS EFERFSLSAR NITEPLCSLD INWPRDATQA
   961  SYRIRESPKL SQANGTPSIL LAPQSLDGSP DPAHSMGPDT PEPPEAALSP MSIDSATSAD
  1021  TTLDTTGDVT VEDVKDFLGS SEESEKNLRN LAEDEAHACA ILIK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LLGL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
65 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 65 nTPM
  • midbrain: 41 nTPM
  • hippocampal formation: 36 nTPM
  • amygdala: 30 nTPM
  • basal ganglia: 29 nTPM
  • cerebral cortex: 25 nTPM

Single-cell type

  • oligodendrocytes: 22 nCPM
  • ependymal cells: 7.1 nCPM
  • astrocytes: 5.9 nCPM
  • bergmann glia: 4.5 nCPM
  • retinal ganglion cells: 3.9 nCPM
  • oligodendrocyte progenitor cells: 3.7 nCPM

Immune cell

  • basophil: 0.1 nTPM
  • neutrophil: 0.1 nTPM
  • NK-cell: 0.1 nTPM
  • T-reg: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • white matter: 77 nTPM
  • medulla oblongata: 62 nTPM
  • cerebellum: 53 nTPM
  • basal ganglia: 53 nTPM
  • spinal cord: 50 nTPM
  • midbrain: 48 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.53
gnomAD pLI
0
gnomAD missense Z
1.45
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LLGL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LLGL1 as an antibody target. Whether an autoantibody or antibody against LLGL1 could matter depends on whether native LLGL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LLGL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LLGL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LLGL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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