1. Gene
  2. PTCHD1 - patched domain containing 1 Gene

PTCHD1 - patched domain containing 1 Gene

中文名称:含补丁域 1

种属: Homo sapiens

同用名: AUTSX4

基因 ID: 139411 | 基因类型: protein coding

关于 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.

功能概要

该基因编码具有修补结构域的膜蛋白。编码的蛋白质类似于果蝇蛋白质,后者充当形态发生素声波刺猬的受体。该基因位于 X 染色体上,缺失与智力障碍和自闭症有关 (PMID:21091464,PMID:20844286) 。[RefSeq 提供,2011 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_173495.3 NP_775766.2 patched domain-containing protein 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
20844286 GOA
involved in smoothened signaling pathway IDA
IDA: 通过直接分析推断
20844286 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in dendritic spine IDA
IDA: 通过直接分析推断
33856728 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20844286 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PTCHD1 蛋白结构

Patched

Patched: Patched family (91 - 848)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 888 a.a.
蛋白主名 其他名称

patched domain-containing protein 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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