Seroatlas · Human Serome Atlas

LRSAM1

E3 ubiquitin-protein ligase LRSAM1

Also known as: CMT2P, FLJ31641, LRSM1_HUMAN, RIFLE, TAL

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

Protein identityUniProt · HPA

UniProt accession
Q6UWE0
Gene
LRSAM1
Ensembl
ENSG00000148356
Chromosome
9
Canonical length
723 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

723 residues, UniProt reviewed canonical sequence.

>Q6UWE0|LRSAM1
     1  MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
    61  IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
   121  RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
   181  DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
   241  RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
   301  EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
   361  NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
   421  MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
   481  ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
   541  ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
   601  SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
   661  PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
   721  HSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRSAM1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • skin: 16 nTPM
  • heart muscle: 16 nTPM
  • cerebral cortex: 15 nTPM
  • colon: 13 nTPM
  • cerebellum: 12 nTPM
  • hypothalamus: 11 nTPM

Single-cell type

  • esophageal apical cells: 78 nCPM
  • retinal ganglion cells: 77 nCPM
  • renal collecting duct intercalated cells: 65 nCPM
  • cardiomyocytes: 61 nCPM
  • syncytiotrophoblasts: 57 nCPM
  • esophageal suprabasal cells: 56 nCPM

Immune cell

  • eosinophil: 22 nTPM
  • basophil: 19 nTPM
  • non-classical monocyte: 6.9 nTPM
  • intermediate monocyte: 6.6 nTPM
  • myeloid DC: 6.1 nTPM
  • classical monocyte: 4.9 nTPM

Brain region

  • pons: 17 nTPM
  • hypothalamus: 12 nTPM
  • cerebral cortex: 12 nTPM
  • medulla oblongata: 12 nTPM
  • white matter: 12 nTPM
  • basal ganglia: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRSAM1.

Disease | AllUniProt

Conditions LRSAM1 is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, axonal, type 2P (CMT2P) MIM:614436

Disease | GeneticClinVar

91 pathogenic / likely-pathogenic of 1,016 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.75
gnomAD pLI
0
gnomAD missense Z
0.41
DepMap mean gene effect
0.02
DepMap dependency class
none

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 LRSAM1 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 LRSAM1 as an antibody target. Whether an autoantibody or antibody against LRSAM1 could matter depends on whether native LRSAM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LRSAM1 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 LRSAM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LRSAM1. 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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