Seroatlas · Human Serome Atlas

PTCH1

Protein patched homolog 1

Also known as: BCNS, NBCCS, PTC1_HUMAN, PTCH

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

Protein identityUniProt · HPA

UniProt accession: Q13635
Gene: PTCH1
Ensembl: ENSG00000185920
Chromosome: 9
Canonical length: 1447 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Golgi apparatus,Primary cilium

OverviewNCBI Gene

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

1447 residues, UniProt reviewed canonical sequence.

>Q13635|PTCH1
     1  MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF
    61  ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN
   121  LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD
   181  SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK
   241  LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA
   301  DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL
   361  QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL
   421  SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS
   481  VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC
   541  LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL
   601  YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS
   661  TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL
   721  HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI
   781  VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL
   841  PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS
   901  QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR
   961  LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ
  1021  YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA
  1081  VPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML
  1141  AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP
  1201  PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE
  1261  NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPPYRPRR
  1321  DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA
  1381  VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER
  1441  PRGSSSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTCH1 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: 12
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

cervix: 35 nTPM
endometrium: 21 nTPM
testis: 17 nTPM
stomach: 16 nTPM
rectum: 16 nTPM
colon: 15 nTPM

Single-cell type

peritubular myoid cells: 686 nCPM
late spermatids: 423 nCPM
bergmann glia: 406 nCPM
leydig cells: 386 nCPM
endometrial stromal cells: 133 nCPM
somatotrophs: 111 nCPM

Immune cell

gdT-cell: 6.2 nTPM
MAIT T-cell: 3.5 nTPM
memory CD8 T-cell: 2.6 nTPM
naive CD8 T-cell: 2.3 nTPM
naive CD4 T-cell: 1.9 nTPM
total PBMC: 1.7 nTPM

Brain region

thalamus: 71 nTPM
hypothalamus: 69 nTPM
cerebellum: 69 nTPM
medulla oblongata: 52 nTPM
midbrain: 47 nTPM
basal ganglia: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTCH1.

Disease | AllUniProt

Conditions PTCH1 is implicated in, by any mechanism.

Basal cell nevus syndrome 1 (BCNS1) MIM:109400
Basal cell carcinoma (BCC) MIM:605462
Holoprosencephaly 7 (HPE7) MIM:610828

Disease | GeneticClinVar

750 pathogenic / likely-pathogenic of 6,300 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 1
Holoprosencephaly 7
PTCH1-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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 1.68
DepMap mean gene effect: 0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PTCH1 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 PTCH1 as an antibody target. Whether an autoantibody or antibody against PTCH1 could matter depends on whether native PTCH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTCH1 is annotated at the cell surface, where native PTCH1 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 PTCH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...