ENSG00000047579


Homo sapiens

Features
Gene ID: ENSG00000047579
  
Biological name :DTNBP1
  
Synonyms : DTNBP1 / dystrobrevin binding protein 1 / Q96EV8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p22.3
Gene start: 15522801
Gene end: 15663058
  
Corresponding Affymetrix probe sets: 223445_at (Human Genome U133 Plus 2.0 Array)   223446_s_at (Human Genome U133 Plus 2.0 Array)   223763_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000341680
Ensembl peptide - ENSP00000344718
Ensembl peptide - ENSP00000481997
Ensembl peptide - ENSP00000427473
Ensembl peptide - ENSP00000427239
Ensembl peptide - ENSP00000425495
Ensembl peptide - ENSP00000424685
Ensembl peptide - ENSP00000424357
Ensembl peptide - ENSP00000424202
Ensembl peptide - ENSP00000421797
Ensembl peptide - ENSP00000348183
NCBI entrez gene - 84062     See in Manteia.
OMIM - 607145
RefSeq - XM_017011349
RefSeq - NM_001271667
RefSeq - NM_001271668
RefSeq - NM_001271669
RefSeq - NM_032122
RefSeq - NM_183040
RefSeq - XM_005249447
RefSeq - XM_011514936
RefSeq - XM_011514937
RefSeq - XM_017011348
RefSeq Peptide - NP_115498
RefSeq Peptide - NP_898861
RefSeq Peptide - NP_001258596
RefSeq Peptide - NP_001258597
RefSeq Peptide - NP_001258598
swissprot - A0A087WYP9
swissprot - D6RID1
swissprot - D6RCT8
swissprot - D6RB80
swissprot - D6RAX1
swissprot - D6RAR7
swissprot - A6NFV8
swissprot - Q96EV8
swissprot - D6RJC6
swissprot - A0A0S2Z5U8
Ensembl - ENSG00000047579
  
Related genetic diseases (OMIM): 614076 - Hermansky-Pudlak syndrome 7, 614076
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dtnbp1bENSDARG00000055206Danio rerio
 DTNBP1ENSGALG00000012703Gallus gallus
 Dtnbp1ENSMUSG00000057531Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DBNDD2 / Q9BQY9 / dysbindin domain containing 2ENSG0000024427419


Protein motifs (from Interpro)
Interpro ID Name
 IPR007531  Dysbindin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001956 positive regulation of neurotransmitter secretion ISS
 biological_processGO:0006996 organelle organization IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0008089 anterograde axonal transport ISS
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0014059 regulation of dopamine secretion ISS
 biological_processGO:0031175 neuron projection development IDA
 biological_processGO:0031532 actin cytoskeleton reorganization ISS
 biological_processGO:0032091 negative regulation of protein binding IEA
 biological_processGO:0032438 melanosome organization NAS
 biological_processGO:0043506 regulation of JUN kinase activity IEA
 biological_processGO:0048490 anterograde synaptic vesicle transport ISS
 biological_processGO:0048812 neuron projection morphogenesis ISS
 biological_processGO:0048813 dendrite morphogenesis IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0060155 platelet dense granule organization IEA
 biological_processGO:0060159 regulation of dopamine receptor signaling pathway ISS
 biological_processGO:0071901 negative regulation of protein serine/threonine kinase activity IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane ISS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016528 sarcoplasm IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030426 growth cone ISS
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0030672 synaptic vesicle membrane ISS
 cellular_componentGO:0031083 BLOC-1 complex IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0033162 melanosome membrane IEA
 cellular_componentGO:0042383 sarcolemma ISS
 cellular_componentGO:0043005 neuron projection IDA
 cellular_componentGO:0043197 dendritic spine ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000505 Impaired vision 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000978 Ecchymoses 
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 HP:0001022 Albinism 
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 HP:0001107 Ocular albinism 
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 HP:0003540 Abnormal platelet aggregation 
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 HP:0007663 Decreased central vision 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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