Seroatlas · Human Serome Atlas

LRMDA

Leucine-rich melanocyte differentiation-associated protein

Also known as: C10orf11, CDA017, LRMDA_HUMAN, OCA7

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

Protein identityUniProt · HPA

UniProt accession: Q9H2I8
Gene: LRMDA
Ensembl: ENSG00000148655
Chromosome: 10
Canonical length: 198 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

198 residues, UniProt reviewed canonical sequence.

>Q9H2I8|LRMDA
     1  MEKYLSLSGN HSSNKRSLEG LSAFRSLEEL ILDNNQLGDD LVLPGLPRLH TLTLNKNRIT
    61  DLENLLDHLA EVTPALEYLS LLGNVACPNE LVSLEKDEED YKRYRCFVLY KLPNLKFLDA
   121  QKVTRQEREE ALVRGVFMKV VKPKASSEDV ASSPERHYTP LPSASRELTS HQGVLGKCRY
   181  VYYGKNSEGN RFIRDDQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRMDA 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 62 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 62 nTPM
epididymis: 56 nTPM
liver: 33 nTPM
bone marrow: 26 nTPM
pancreas: 23 nTPM
kidney: 20 nTPM

Single-cell type

microglia: 4,341 nCPM
adrenal cortex cells: 3,457 nCPM
proximal tubule cells: 2,352 nCPM
renal collecting duct intercalated cells: 2,043 nCPM
distal convoluted tubule cells: 2,009 nCPM
bergmann glia: 2,006 nCPM

Immune cell

myeloid DC: 68 nTPM
classical monocyte: 58 nTPM
intermediate monocyte: 29 nTPM
eosinophil: 22 nTPM
total PBMC: 19 nTPM
non-classical monocyte: 17 nTPM

Brain region

medulla oblongata: 20 nTPM
white matter: 19 nTPM
thalamus: 18 nTPM
spinal cord: 17 nTPM
midbrain: 16 nTPM
pons: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRMDA.

Disease | AllUniProt

Conditions LRMDA is implicated in, by any mechanism.

Albinism, oculocutaneous, 7 (OCA7) MIM:615179

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 126 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Oculocutaneous albinism type 7
LRMDA-related disorder

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): 1.2
gnomAD pLI: 0
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

melanocyte differentiation

Protein domainsUniProt · Pfam · InterPro

Leucine-rich repeat
Leucine-rich repeat domain superfamily
Leucine-rich repeat
Leucine-rich melanocyte differentiation-associated protein

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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