Seroatlas · Human Serome Atlas

CDHR1

Cadherin-related family member 1

Also known as: CDHR1_HUMAN, CORD15, KIAA1775, PCDH21, RP65

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

Protein identityUniProt · HPA

UniProt accession
Q96JP9
Gene
CDHR1
Ensembl
ENSG00000148600
Chromosome
10
Canonical length
859 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Golgi apparatus
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

859 residues, UniProt reviewed canonical sequence.

>Q96JP9|CDHR1
     1  MRRCRWAALA LGLLRLCLAQ ANFAPHFFDN GVGSTNGNMA LFSLPEDTPV GSHVYTLNGT
    61  DPEGDPISYH ISFDPSTRSV FSVDPTFGNI TLVEELDRER EDEIEAIISI SDGLNLVAEK
   121  VVILVTDAND EAPRFIQEPY VALVPEDIPA GSIIFKVHAV DRDTGSGGSV TYFLQNLHSP
   181  FAVDRHSGVL RLQAGATLDY ERSRTHYITV VAKDGGGRLH GADVVFSATT TVTVNVEDVQ
   241  DMAPVFVGTP YYGYVYEDTL PGSEVLKVVA MDGDRGKPNR ILYSLVNGND GAFEINETSG
   301  AISITQSPAQ LQREVYELHV QVTEMSPAGS PAAQATVPVT IRIVDLNNHP PTFYGESGPQ
   361  NRFELSMNEH PPQGEILRGL KITVNDSDQG ANAKFNLQLV GPRGIFRVVP QTVLNEAQVT
   421  IIVENSAAID FEKSKVLTFK LLAVEVNTPE KFSSTADVVI QLLDTNDNVP KFDSLYYVAR
   481  IPENAPGGSS VVAVTAVDPD TGPWGEVKYS TYGTGADLFL IHPSTGLIYT QPWASLDAEA
   541  TARYNFYVKA EDMEGKYSVA EVFITLLDVN DHPPQFGKSV QKKTMVLGTP VKIEAIDEDA
   601  EEPNNLVDYS ITHAEPANVF DINSHTGEIW LKNSIRSLDA LHNITPGRDC LWSLEVQAKD
   661  RGSPSFSTTA LLKIDITDAE TLSRSPMAAF LIQTKDNPMK AVGVLAGTMA TVVAITVLIS
   721  TATFWRNKKS NKVLPMRRVL RKRPSPAPRT IRIEWLKSKS TKAATKFMLK EKPPNENCNN
   781  NSPESSLLPR APALPPPPSV APSTGAAQWT VPTVSGSLTP QPTQPPPKPK TMGSPVQSTL
   841  ISELKQKFEK KSVHNKAYF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CDHR1 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)
0.38
Highest tissue expression
291 nTPM

Expression across tissuesHPA

Tissue

  • retina: 291 nTPM
  • skin: 202 nTPM
  • rectum: 50 nTPM
  • colon: 27 nTPM
  • choroid plexus: 24 nTPM
  • basal ganglia: 13 nTPM

Single-cell type

  • cone photoreceptor cells: 358 nCPM
  • rod photoreceptor cells: 301 nCPM
  • enteric stem cells: 85 nCPM
  • basal keratinocytes: 67 nCPM
  • colonocytes: 66 nCPM
  • suprabasal keratinocytes: 60 nCPM

Immune cell

  • NK-cell: 7.5 nTPM
  • MAIT T-cell: 0.6 nTPM
  • gdT-cell: 0.4 nTPM
  • memory CD8 T-cell: 0.2 nTPM
  • total PBMC: 0.1 nTPM
  • basophil: 0 nTPM

Brain region

  • choroid plexus: 110 nTPM
  • basal ganglia: 47 nTPM
  • pons: 37 nTPM
  • medulla oblongata: 34 nTPM
  • cerebral cortex: 26 nTPM
  • hypothalamus: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CDHR1.

Disease | AllUniProt

Conditions CDHR1 is implicated in, by any mechanism.

Disease | GeneticClinVar

100 pathogenic / likely-pathogenic of 1,002 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)
1.31
gnomAD pLI
0
gnomAD missense Z
-0.7
DepMap mean gene effect
-0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 CDHR1 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 CDHR1 as an antibody target. Whether an autoantibody or antibody against CDHR1 could matter depends on whether native CDHR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CDHR1 is annotated at the cell surface, where native CDHR1 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 CDHR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CDHR1. 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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