ENSMUSG00000037418


Mus musculus

Features
Gene ID: ENSMUSG00000037418
  
Biological name :Best1
  
Synonyms : Best1 / Bestrophin-1 / O88870
  
Possible biological names infered from orthology : O76090
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: A
Gene start: 9985174
Gene end: 10001633
  
Corresponding Affymetrix probe sets: 10465881 (MoGene1.0st)   1428841_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000113053
NCBI entrez gene - 24115     See in Manteia.
MGI - MGI:1346332
RefSeq - NM_011913
RefSeq Peptide - NP_036043
swissprot - O88870
Ensembl - ENSMUSG00000037418
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 best1ENSDARG00000078331Danio rerio
 BEST1ENSGALG00000007217Gallus gallus
 BEST1ENSG00000167995Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Best3 / Q6H1V1 / Bestrophin-3 / Q8N1M1*ENSMUSG0000002016946
Best2 / bestrophin 2 / Q8NFU1*ENSMUSG0000005281943


Protein motifs (from Interpro)
Interpro ID Name
 IPR000615  Bestrophin
 IPR021134  Bestrophin/UPF0187
 IPR033041  Bestrophin-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport ISO
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0030321 transepithelial chloride transport IEA
 biological_processGO:0050908 detection of light stimulus involved in visual perception IMP
 biological_processGO:0051924 regulation of calcium ion transport IMP
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane ISS
 cellular_componentGO:0034707 chloride channel complex ISO
 molecular_functionGO:0005254 chloride channel activity ISO
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
Show

Allelic Composition: Scube2tm1Rbya/Scube2tm1Rbya
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scube2tm1Rbya/Scube2tm1Rbya
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0003099 retinal detachment "detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:83544]
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Allelic Composition: Best1tm1.1Amar/Best1tm1.1Amar
Genetic Background: involves: 129X1/SvJ * BALB/c

Allelic Composition: Best1tm1.1Amar/Best1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0004543 abnormal sperm physiology "anomaly in the normal function of spermatozoa" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 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]
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Allelic Composition: Grin2btm1.1Jlbr/Grin2btm1.1Jlbr,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

Allelic Composition: Best1tm1.1Amar/Best1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

Allelic Composition: Best1tm1.1Amar/Best1tm1.1Amar
Genetic Background: involves: 129X1/SvJ * BALB/c

Allelic Composition: Best1tm1.1Amar/Best1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast,Dicer1tm1Mmk/Dicer1tm1Mmk,Cd79atm1(cre)Reth/Cd79a+
Genetic Background: involves: 129S1/Sv * BALB/c

Allelic Composition: Best1tm1.1Amar/Best1tm1.1Amar
Genetic Background: involves: 129X1/SvJ * BALB/c

Allelic Composition: Best1tm1.1Amar/Best1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0008839 absent acrosome "mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008892 abnormal sperm flagellum "any strucutral anomaly of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MESH:A05.360.490.890.840]
Show

Allelic Composition: Scube2tm1Rbya/Scube2tm1Rbya
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008893 detached sperm flagellum "fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head" [MESH:A05.360.490.890.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008898 abnormal acrosome morphology "any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100]
Show

Allelic Composition: Scube2tm1Rbya/Scube2tm1Rbya
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0009237 kinked sperm flagellum "a sharp bend or zigzag in the sperm tail" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0009238 coiled sperm flagellum "abnormal twisting of the sperm flagellum into coils or spirals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0009325 necrospermia "condition in which spermatozoa in seminal fluid are dead or motionless" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

  


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






 

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