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PTCHD1 - patched domain containing 1 Gene

Also Known as AUTSX4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 139411

About PTCHD1

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:23,334,396-23,404,374 (from NCBI)

This gene has 2 transcripts (splice variants), 229 orthologues, 10 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 1.9), endometrium (RPKM 0.9) and 12 other tissues.

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]

PTCHD1 Products (1)

mRNA	Protein	Name
NM_173495.3	NP_775766.2	patched domain-containing protein 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	20844286	GOA
involved in smoothened signaling pathway	IDA IDA: Inferred from direct assay	20844286	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in dendritic spine	IDA IDA: Inferred from direct assay	33856728	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20844286	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTCHD1 Protein Structure

Patched

0
200
400
600
800
888 a.a.

Protein Preferred Names	Protein Names
patched domain-containing protein 1

Related Diseases

Diseases	Alias
Autism X-Linked 4	Autism, Susceptibility To, X-Linked 4 Chromosome Xp22 Deletion Syndrome AUTSX4 X-Linked Susceptibility To Autism-4 Susceptibility To Autism, X-Linked Autism, X-Linked 4 {Autism, Susceptibility To, X-Linked 4}
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11358	PTCHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PTCHD1	RGD	RGD:1564527
Felis catus	PTCHD1	VGNC	VGNC:64424
Macaca mulatta	PTCHD1	VGNC	VGNC:76322
Mus musculus	PTCHD1	MGD	MGI:2685233
Canis familiaris	PTCHD1	VGNC	VGNC:45134
Bos taurus	PTCHD1	VGNC	VGNC:33493
Others	PTCHD1	NCBI