Cell atlas - PTCHD1 - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

PTCHD1

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

Please wait until image is loaded before changing channels

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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enhanced (WM-115, RT4, HEK 293)
Protein evidence	Evidence at transcript level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (WM-115, RT4, HEK 293) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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.