Expression of PTCHD1 in cancer - Summary - The Human Protein Atlas

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PTCHD1

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	PTCHD1
Gene description	Patched domain containing 1
Protein class	Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Mixed
HPA (cell line):	Cell line enhanced (HEK93, RT4, WM-115)
HPA (normal tissue):	Tissue enhanced (epididymis)

Protein evidence

Evidence at transcript level

Protein expression
normal tissue

Estimation of protein expression could not be performed. View primary data.

ANTIBODY IHC RELIABILITY
Data reliability description	RNA-based expert annotation gave inconclusive results. Pending external verification. GTEx characterization data indicates expression in cerebellum.
Reliability score	Uncertain based on 1 antibody. HPA046110
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Mixed

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA046110

GENE INFORMATION
Gene name	PTCHD1 (HGNC Symbol)
Synonyms	FLJ30296
Description	Patched domain containing 1 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	X
Cytoband	p22.11
Chromosome location (bp)	23334015 - 23404372
Protein evidence	Evidence at transcript level (all genes)
Ensembl	ENSG00000165186 (version 83.38)
Entrez gene	139411
UniProt	Q96NR3 (UniProt - Evidence at transcript level)
neXtProt	NX_Q96NR3
Antibodypedia	PTCHD1 antibodies

PROTEIN BROWSER

PTCHD1-001	PTCHD1-002	PTCHD1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PTCHD1-001 ENSP00000406663 ENST00000456522	H7C2M0 [Direct mapping] Patched domain-containing protein 1 Show all	Predicted intracellular proteins Show all		103 aa 11.7 kDa	No	0
PTCHD1-002 ENSP00000368666 ENST00000379361	Q96NR3 [Direct mapping] Patched domain-containing protein 1 X5DNX9 [Target identity:100%; Query identity:100%] Patched domain containing 1 isoform B Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Show all	GO:0003674 [molecular_function] GO:0005886 [plasma membrane] GO:0007224 [smoothened signaling pathway] GO:0008158 [hedgehog receptor activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0050890 [cognition] Show all	888 aa 101.3 kDa	No	>9
PTCHD1-201 ENSP00000478663 ENST00000616022	Q96NR3 [Direct mapping] Patched domain-containing protein 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Show all	GO:0003674 [molecular_function] GO:0005886 [plasma membrane] GO:0007224 [smoothened signaling pathway] GO:0008158 [hedgehog receptor activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0050890 [cognition] Show all	256 aa 28.9 kDa	No	3

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.