Seroatlas · Human Serome Atlas

ILDR1

Immunoglobulin-like domain-containing receptor 1

Also known as: DFNB42, ILDR1_HUMAN, MGC50831

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

Protein identityUniProt · HPA

UniProt accession: Q86SU0
Gene: ILDR1
Ensembl: ENSG00000145103
Chromosome: 3
Canonical length: 546 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Secretome location: Intracellular and membrane
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

546 residues, UniProt reviewed canonical sequence.

>Q86SU0|ILDR1
     1  MAWPKLPAPW LLLCTWLPAG CLSLLVTVQH TERYVTLFAS IILKCDYTTS AQLQDVVVTW
    61  RFKSFCKDPI FDYYSASYQA ALSLGQDPSN DCNDNQREVR IVAQRRGQNE PVLGVDYRQR
   121  KITIQNRADL VINEVMWWDH GVYYCTIEAP GDTSGDPDKE VKLIVLHWLT VIFIILGALL
   181  LLLLIGVCWC QCCPQYCCCY IRCPCCPAHC CCPEEALARH RYMKQAQALG PQMMGKPLYW
   241  GADRSSQVSS YPMHPLLQRD LSLPSSLPQM PMTQTTNQPP IANGVLEYLE KELRNLNLAQ
   301  PLPPDLKGRF GHPCSMLSSL GSEVVERRII HLPPLIRDLS SSRRTSDSLH QQWLTPIPSR
   361  PWDLREGRSH HHYPDFHQEL QDRGPKSWAL ERRELDPSWS GRHRSSRLNG SPIHWSDRDS
   421  LSDVPSSSEA RWRPSHPPFR SRCQERPRRP SPRESTQRHG RRRRHRSYSP PLPSGLSSWS
   481  SEEDKERQPQ SWRAHRRGSH SPHWPEEKPP SYRSLDITPG KNSRKKGSVE RRSEKDSSHS
   541  GRSVVI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ILDR1 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: 1
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 15 nTPM
epididymis: 12 nTPM
cervix: 11 nTPM
seminal vesicle: 9.9 nTPM
colon: 7.7 nTPM
salivary gland: 7.5 nTPM

Single-cell type

conjunctival goblet cells: 39 nCPM
respiratory secretory cells: 32 nCPM
cytotrophoblasts: 28 nCPM
epididymal principal cells: 27 nCPM
pituitary stem cells: 26 nCPM
salivary duct cells: 25 nCPM

Immune cell

memory B-cell: 1.7 nTPM
naive B-cell: 1.1 nTPM
T-reg: 0.4 nTPM
basophil: 0.2 nTPM
classical monocyte: 0.2 nTPM
myeloid DC: 0.2 nTPM

Brain region

amygdala: 1.3 nTPM
cerebellum: 1.3 nTPM
cerebral cortex: 1.3 nTPM
basal ganglia: 1.2 nTPM
hippocampal formation: 1.2 nTPM
midbrain: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ILDR1.

Disease | AllUniProt

Conditions ILDR1 is implicated in, by any mechanism.

Deafness, autosomal recessive, 42 (DFNB42) MIM:609646

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 337 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 42
Hearing loss, autosomal recessive
ILDR1-related disorder
Childhood onset hearing loss
Nonsyndromic genetic hearing loss

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: -0.26
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 ILDR1 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 ILDR1 as an antibody target. Whether an autoantibody or antibody against ILDR1 could matter depends on whether native ILDR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ILDR1 is annotated at the cell surface, where native ILDR1 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 ILDR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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