ENSMUSG00000041552


Mus musculus

Features
Gene ID: ENSMUSG00000041552
  
Biological name :Ptchd1
  
Synonyms : Patched domain-containing protein 1 / Ptchd1 / Q14B62
  
Possible biological names infered from orthology : patched domain containing 1 / Q96NR3
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: F3
Gene start: 155573455
Gene end: 155623814
  
Corresponding Affymetrix probe sets: 10607486 (MoGene1.0st)   1445703_at (Mouse Genome 430 2.0 Array)   1456681_at (Mouse Genome 430 2.0 Array)   1457649_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000039443
Ensembl peptide - ENSMUSP00000132293
NCBI entrez gene - 211612     See in Manteia.
MGI - MGI:2685233
RefSeq - XM_011247812
RefSeq - NM_001093750
RefSeq - XM_006528793
RefSeq Peptide - NP_001087219
swissprot - Q14B62
swissprot - F6WEC8
Ensembl - ENSMUSG00000041552
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ptchd1ENSDARG00000018066Danio rerio
 PTCHD1ENSGALG00000016358Gallus gallus
 PTCHD1ENSG00000165186Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ptchd4 / Mus musculus patched domain containing 4 (Ptchd4), transcript variant 1, mRNA. / Q6ZW05* / patched domain containing 4*ENSMUSG0000004225650
Ptchd3 / Q0EEE2 / patched domain containing 3 / Q3KNS1*ENSMUSG0000003919823
Ptch1 / Q61115 / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA. / Q13635* / patched 1*ENSMUSG0000002146617
2 / Ptch2 / O35595 / Q9Y6C5* / patched 2*ENSMUSG0000002868117
Npc1l1 / NPC1 like intracellular cholesterol transporter 1 / Q9UHC9*ENSMUSG0000002044717
Npc1 / O35604 / Niemann-Pick C1 protein / O15118* / NPC intracellular cholesterol transporter 1*ENSMUSG0000002441316


Protein motifs (from Interpro)
Interpro ID Name
 IPR000731  Sterol-sensing domain
 IPR003392  Protein patched/dispatched


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0021794 thalamus development IMP
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0050890 cognition IMP
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
Show

Allelic Composition: Psen1tm1.1(KOMP)Vlcg/Psen1+
Genetic Background: C57BL/6N-Psen1tm1.1(KOMP)Vlcg/Ucd

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

Allelic Composition: Ptchd1tm2.1Gfng/Y,Ssttm2.1(cre)Zjh/Sst+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

Allelic Composition: Ptchd1tm1b(KOMP)IcsOrl/Y
Genetic Background: C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics

Allelic Composition: Ptchd1tm1b(KOMP)IcsOrl/Ptchd1tm1b(KOMP)IcsOrl
Genetic Background: C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

 MP:0001501 abnormal sleep pattern "deviation from the normal wake/sleep cycle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

Allelic Composition: Ptchd1tm2.1Gfng/Y,Ssttm2.1(cre)Zjh/Sst+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001529 abnormal vocalization "an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:85479]
Show

Allelic Composition: Psen1tm1.1(KOMP)Vlcg/Psen1+
Genetic Background: C57BL/6N-Psen1tm1.1(KOMP)Vlcg/Ucd

 MP:0003463 abnormal single cell response "altered values from controls obtained upon extra- or intracellular recordings from single cells" [Nmice:Neuromice Consortium Submission]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

 MP:0003960 increased lean body mass "more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Ptchd1tm1b(KOMP)IcsOrl/Y
Genetic Background: C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics

 MP:0004144 hypotonia "decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness" [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptchd1tm1b(KOMP)IcsOrl/Ptchd1tm1b(KOMP)IcsOrl
Genetic Background: C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics

 MP:0005655 increased aggression "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

Allelic Composition: Ptchd1tm1b(KOMP)IcsOrl/Y
Genetic Background: C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics

 MP:0009454 impaired contextual conditioning "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

 MP:0009456 impaired cued conditioning behavior "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Ptchd1tm1b(KOMP)IcsOrl/Y
Genetic Background: C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics

 MP:0012312 impaired avoidance learning behavior "impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus" [http://orcid.org/0000-0001-5208-3432]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

 MP:0014114 abnormal cognition "any anomaly in the operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory" [GO:0050890]
Show

Allelic Composition: Npr1tm1.1Kkan/Npr1tm1.1Kkan,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

Allelic Composition: Ptchd1tm2.1Gfng/Y,Ssttm2.1(cre)Zjh/Sst+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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