Seroatlas · Human Serome Atlas

LMBR1

Limb region 1 protein homolog

Also known as: ACHP, C7orf2, FLJ11665, LMBR1_HUMAN, ZRS

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

Protein identityUniProt · HPA

UniProt accession
Q8WVP7
Gene
LMBR1
Ensembl
ENSG00000105983
Chromosome
7
Canonical length
490 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

490 residues, UniProt reviewed canonical sequence.

>Q8WVP7|LMBR1
     1  MEGQDEVSAR EQHFHSQVRE STICFLLFAI LYVVSYFIIT RYKRKSDEQE DEDAIVNRIS
    61  LFLSTFTLAV SAGAVLLLPF SIISNEILLS FPQNYYIQWL NGSLIHGLWN LASLFSNLCL
   121  FVLMPFAFFF LESEGFAGLK KGIRARILET LVMLLLLALL ILGIVWVASA LIDNDAASME
   181  SLYDLWEFYL PYLYSCISLM GCLLLLLCTP VGLSRMFTVM GQLLVKPTIL EDLDEQIYII
   241  TLEEEALQRR LNGLSSSVEY NIMELEQELE NVKTLKTKLE RRKKASAWER NLVYPAVMVL
   301  LLIETSISVL LVACNILCLL VDETAMPKGT RGPGIGNASL STFGFVGAAL EIILIFYLMV
   361  SSVVGFYSLR FFGNFTPKKD DTTMTKIIGN CVSILVLSSA LPVMSRTLGI TRFDLLGDFG
   421  RFNWLGNFYI VLSYNLLFAI VTTLCLVRKF TSAVREELFK ALGLHKLHLP NTSRDSETAK
   481  PSVNGHQKAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMBR1 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
Cell surface
Secreted
No
Transmembrane segments
9
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 27 nTPM
  • adrenal gland: 17 nTPM
  • thyroid gland: 12 nTPM
  • epididymis: 12 nTPM
  • testis: 12 nTPM
  • cerebral cortex: 11 nTPM

Single-cell type

  • sertoli cells: 690 nCPM
  • neutrophil progenitors: 628 nCPM
  • thymic myoid cells: 337 nCPM
  • neutrophils: 324 nCPM
  • adrenal cortex cells: 305 nCPM
  • thymocytes: 289 nCPM

Immune cell

  • basophil: 1.2 nTPM
  • naive CD4 T-cell: 0.9 nTPM
  • eosinophil: 0.8 nTPM
  • myeloid DC: 0.8 nTPM
  • memory CD4 T-cell: 0.7 nTPM
  • MAIT T-cell: 0.6 nTPM

Brain region

  • hypothalamus: 20 nTPM
  • cerebral cortex: 20 nTPM
  • pons: 18 nTPM
  • cerebellum: 18 nTPM
  • medulla oblongata: 17 nTPM
  • thalamus: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMBR1.

Disease | AllUniProt

Conditions LMBR1 is implicated in, by any mechanism.

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 364 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Laurin-Sandrow syndrome
  • Acheiropodia
  • Triphalangeal thumb-polysyndactyly syndrome

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)
0.83
gnomAD pLI
0
gnomAD missense Z
0.85
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LMBR1 as an antibody target. Whether an autoantibody or antibody against LMBR1 could matter depends on whether native LMBR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LMBR1 is annotated at the cell surface, where native LMBR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label LMBR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LMBR1. 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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