Tissue expression of PTCHD1 - Summary - The Human Protein Atlas

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PTCHD1

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Tissue enhanced (epididymis)
GTEx:	Tissue enhanced (cerebellum)
FANTOM5:	Tissue enhanced (cerebellum)

Protein evidence

Evidence at transcript level

Protein expression

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

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

N/A

Caudate

N/A

N/A

Cerebellum

N/A

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

N/A

Bronchus

N/A

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

N/A

Skin

N/A

Skin

N/A

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (epididymis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum)

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.