ENSMUSG00000020198


Mus musculus

Features
Gene ID: ENSMUSG00000020198
  
Biological name :Ap3d1
  
Synonyms : AP-3 complex subunit delta-1 / Ap3d1 / O54774
  
Possible biological names infered from orthology : adaptor related protein complex 3 delta 1 subunit / O14617
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: C1
Gene start: 80706956
Gene end: 80742264
  
Corresponding Affymetrix probe sets: 10370950 (MoGene1.0st)   1417964_at (Mouse Genome 430 2.0 Array)   1445280_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000020420
Ensembl peptide - ENSMUSP00000151820
Ensembl peptide - ENSMUSP00000151355
NCBI entrez gene - 11776     See in Manteia.
MGI - MGI:107734
RefSeq - NM_007460
RefSeq Peptide - NP_031486
swissprot - A0A1W2P7Z2
swissprot - A0A1W2P6Q6
swissprot - O54774
Ensembl - ENSMUSG00000020198
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ap3d1ENSDARG00000071424Danio rerio
 ENSGALG00000000996Gallus gallus
 AP3D1ENSG00000065000Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002553  Clathrin/coatomer adaptor, adaptin-like, N-terminal
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR017105  Adaptor protein complex AP-3, delta subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006829 zinc ion transport TAS
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016182 synaptic vesicle budding from endosome IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0019882 antigen processing and presentation IMP
 biological_processGO:0033365 protein localization to organelle IMP
 biological_processGO:0035646 endosome to melanosome transport ISO
 biological_processGO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0048499 synaptic vesicle membrane organization IMP
 biological_processGO:0051138 positive regulation of NK T cell differentiation IMP
 biological_processGO:0061088 regulation of sequestering of zinc ion TAS
 biological_processGO:0072657 protein localization to membrane ISO
 biological_processGO:0098943 neurotransmitter receptor transport, postsynaptic endosome to lysosome IMP
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0010008 endosome membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030117 membrane coat IEA
 cellular_componentGO:0030123 AP-3 adaptor complex IEA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0043195 terminal bouton IDA
 cellular_componentGO:0098794 postsynapse IEA
 cellular_componentGO:0098830 presynaptic endosome IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005488 binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

 MP:0000034 abnormal vestibule morphology "malformed cavity between the semicircular canals and the cochlea of the inner ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0000048 abnormal stria vascularis "anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0000192 abnormal mineral level "anomalous concentration of any inorganic substance that has importance in body functions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

Allelic Composition: Ap3d1mh-2J/Ap3d1mh-2J
Genetic Background: C3H/HeJ-Ap3d1mh-2J/J

Allelic Composition: Ap3d1m1Btlr/Ap3d1m1Btlr
Genetic Background: C57BL/6J-Ap3d1m1Btlr

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ap3d1mh-2J/Ap3d1mh-2J,Nxf1Mvb1/Nxf1Mvb1
Genetic Background: involves: C3H/HeJ * C57BL/6

Allelic Composition: Ap3d1mh-4J/Ap3d1mh-4J
Genetic Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Ntf3tm1Par/Ntf3tm2Jae,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 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: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

Allelic Composition: Ap3d1mh-2J/Ap3d1mh-2J
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Ap3d1mh-4J/Ap3d1mh-4J
Genetic Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Ap3d1mh-4J/Ap3d1mh-4J
Genetic Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J

 MP:0001963 abnormal hearing "anomaly in the ability to receive auditory stimuli" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Map1btm1Rak/Map1b+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Drd5tm1Sib/Drd5tm1Sib
Genetic Background: B6.129S4-Drd5tm1Sib

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0002894 abnormal otoliths "malformed crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0002978 absent otoliths "absence of the crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0003173 decreased lysosomal enzyme secretion "production of glycoprotein hydrolytic enzymes is decreased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0003633 abnormal nervous system physiology 
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0003889 enhanced sensorimotor gating 
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0004721 abnormal platelet dense granule morphology "any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0004725 decreased platelet serotonin level "reduced concentration of serotonin in the platelets; this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0004738 abnormal brainstem auditory evoked potential "anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

Allelic Composition: Ap3d1mh-2J/Ap3d1mh-2J
Genetic Background: involves: C3H/HeJ * C57BL/6J * CAST/Ei

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0004813 absent linear vestibular evoked potential "absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal s head)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0004994 abnormal brain wave pattern "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

Allelic Composition: Ap3d1mh Mfsd12+/Ap3d1+ Mfsd12gr
Genetic Background: STOCK Mfsd12gr +/+ Ap3d1mh/J

 MP:0005172 lack of eye pigmentation "visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0005191 head tilt "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

Allelic Composition: Ap3d1mh-4J/Ap3d1mh-4J
Genetic Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 MP:0008840 abnormal spike wave discharge "anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy" [PMID:16725200]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

Allelic Composition: Ap3d1mh-2J/Ap3d1mh-2J
Genetic Background: involves: C3H/HeJ * C57BL/6J * CAST/Ei

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0010149 abnormal synaptic dopamine release "aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Ap3d1mh/Ap3d1mh
Genetic Background: B6.C3-Grxcr1pi

 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]
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Allelic Composition: Ap3d1mh-4J/Ap3d1mh-4J
Genetic Background: involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J

 MP:0020432 decreased platelet dense granule number "decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [orcid.org/0000-0003-4606-0597]
Show

Allelic Composition: Adgrv1tm1Msat/Adgrv1tm1Msat
Genetic Background: B6.129P2-Adgrv1tm1Msat

  


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






 

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