Seroatlas · Human Serome Atlas

PTCHD1

Patched domain-containing protein 1

Also known as: FLJ30296, PTHD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96NR3
Gene
PTCHD1
Ensembl
ENSG00000165186
Chromosome
X
Canonical length
888 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

888 residues, UniProt reviewed canonical sequence.

>Q96NR3|PTCHD1
     1  MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE SVEHLLAPQH
    61  SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS FQKANMLDQH HTDLILKLHA
   121  AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV DDIVHVLEEL KNARATNRTN FAITYPITHL
   181  KDGRAVYNGH QLGGVTVHSK DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF
   241  QKSNSKVKMY PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG
   301  LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS WRKTREDQHV
   361  KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR IFCCNSCIAI FFNYLYVLSF
   421  YGSSLVFTGY IENNYQHSIF CRKVPKPEAL QEKPAWYRFL LTARFSEDTA EGEEANTYES
   481  HLLVCFLKRY YCDWITNTYV KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE
   541  YTTAQQKYFS NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV
   601  STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV AKTMETNREE
   661  LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL HNSCISALFL LFFSAFLVAD
   721  SLINVWITLT VVSVEFGVIG FMTLWKVELD CISVLCLIYG INYTIDNCAP MLSTFVLGKD
   781  FTRTKWVKNA LEVHGVAILQ SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA
   841  ILPVILTFLP PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTCHD1 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
11
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 11 nTPM
  • colon: 6.1 nTPM
  • seminal vesicle: 3.7 nTPM
  • blood vessel: 3.5 nTPM
  • cerebral cortex: 2.6 nTPM
  • endometrium: 2.6 nTPM

Single-cell type

  • tuft cells: 150 nCPM
  • astrocytes: 106 nCPM
  • gonadotrophs: 78 nCPM
  • brain excitatory neurons: 64 nCPM
  • breast secretory cells: 49 nCPM
  • epididymal principal cells: 48 nCPM

Immune cell

  • basophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebellum: 37 nTPM
  • midbrain: 15 nTPM
  • thalamus: 15 nTPM
  • pons: 15 nTPM
  • hypothalamus: 14 nTPM
  • medulla oblongata: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTCHD1.

Disease | AllUniProt

Conditions PTCHD1 is implicated in, by any mechanism.

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 357 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)
0.28
gnomAD pLI
0.98
gnomAD missense Z
2
DepMap mean gene effect
0.07
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PTCHD1 as an antibody target. Whether an autoantibody or antibody against PTCHD1 could matter depends on whether native PTCHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTCHD1 is annotated at the cell surface, where native PTCHD1 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 PTCHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PTCHD1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...