Seroatlas · Human Serome Atlas

LMBR1L

Protein LMBR1L

Also known as: FLJ10494, KIAA1174, LMBRL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6UX01
Gene: LMBR1L
Ensembl: ENSG00000139636
Chromosome: 12
Canonical length: 489 aa
Protein class: Predicted membrane proteins

OverviewNCBI Gene

Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

489 residues, UniProt reviewed canonical sequence.

>Q6UX01|LMBR1L
     1  MEAPDYEVLS VREQLFHERI RECIISTLLF ATLYILCHIF LTRFKKPAEF TTVDDEDATV
    61  NKIALELCTF TLAIALGAVL LLPFSIISNE VLLSLPRNYY IQWLNGSLIH GLWNLVFLFS
   121  NLSLIFLMPF AYFFTESEGF AGSRKGVLGR VYETVVMLML LTLLVLGMVW VASAIVDKNK
   181  ANRESLYDFW EYYLPYLYSC ISFLGVLLLL VCTPLGLARM FSVTGKLLVK PRLLEDLEEQ
   241  LYCSAFEEAA LTRRICNPTS CWLPLDMELL HRQVLALQTQ RVLLEKRRKA SAWQRNLGYP
   301  LAMLCLLVLT GLSVLIVAIH ILELLIDEAA MPRGMQGTSL GQVSFSKLGS FGAVIQVVLI
   361  FYLMVSSVVG FYSSPLFRSL RPRWHDTAMT QIIGNCVCLL VLSSALPVFS RTLGLTRFDL
   421  LGDFGRFNWL GNFYIVFLYN AAFAGLTTLC LVKTFTAAVR AELIRAFGLD RLPLPVSGFP
   481  QASRKTQHQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMBR1L 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: 38 nTPM

Expression across tissuesHPA

Tissue

testis: 38 nTPM
cerebellum: 18 nTPM
choroid plexus: 17 nTPM
pituitary gland: 16 nTPM
adrenal gland: 15 nTPM
heart muscle: 15 nTPM

Single-cell type

late spermatids: 271 nCPM
early spermatids: 140 nCPM
esophageal apical cells: 128 nCPM
sertoli cells: 110 nCPM
granulosa cells: 84 nCPM
enterocytes: 67 nCPM

Immune cell

eosinophil: 52 nTPM
basophil: 24 nTPM
T-reg: 22 nTPM
non-classical monocyte: 21 nTPM
classical monocyte: 20 nTPM
naive B-cell: 19 nTPM

Brain region

cerebellum: 11 nTPM
white matter: 8.7 nTPM
hypothalamus: 8.1 nTPM
medulla oblongata: 7.5 nTPM
pons: 7.4 nTPM
cerebral cortex: 6.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMBR1L.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

DSD incomplete virilization

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): 1.07
gnomAD pLI: 0
gnomAD missense Z: 0.78
DepMap mean gene effect: -0.29
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

transmembrane signaling receptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LMBR1L 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 LMBR1L as an antibody target. Whether an autoantibody or antibody against LMBR1L could matter depends on whether native LMBR1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LMBR1L is annotated at the cell surface, where native LMBR1L 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 LMBR1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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