ENSMUSG00000028207


Mus musculus

Features
Gene ID: ENSMUSG00000028207
  
Biological name :Asph
  
Synonyms : Aspartyl/asparaginyl beta-hydroxylase / Asph / Q8BSY0
  
Possible biological names infered from orthology : aspartate beta-hydroxylase / Q12797
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: A1
Gene start: 9448069
Gene end: 9669344
  
Corresponding Affymetrix probe sets: 10511446 (MoGene1.0st)   1420959_at (Mouse Genome 430 2.0 Array)   1425274_at (Mouse Genome 430 2.0 Array)   1425275_at (Mouse Genome 430 2.0 Array)   1426015_s_at (Mouse Genome 430 2.0 Array)   1436455_at (Mouse Genome 430 2.0 Array)   1450058_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000100069
Ensembl peptide - ENSMUSP00000095876
Ensembl peptide - ENSMUSP00000103970
Ensembl peptide - ENSMUSP00000118518
Ensembl peptide - ENSMUSP00000116899
Ensembl peptide - ENSMUSP00000116874
Ensembl peptide - ENSMUSP00000103977
Ensembl peptide - ENSMUSP00000103976
Ensembl peptide - ENSMUSP00000103974
Ensembl peptide - ENSMUSP00000103972
Ensembl peptide - ENSMUSP00000103971
Ensembl peptide - ENSMUSP00000049018
Ensembl peptide - ENSMUSP00000077273
Ensembl peptide - ENSMUSP00000081975
Ensembl peptide - ENSMUSP00000081978
NCBI entrez gene - 65973     See in Manteia.
MGI - MGI:1914186
RefSeq - NM_133723
RefSeq - NM_001177849
RefSeq - NM_001177850
RefSeq - NM_001177851
RefSeq - NM_001177852
RefSeq - NM_001177853
RefSeq - NM_001177854
RefSeq - NM_001177855
RefSeq - NM_001177856
RefSeq - NM_001290367
RefSeq - NM_023066
RefSeq - XM_006538159
RefSeq - XM_017320340
RefSeq - XM_017320341
RefSeq - XM_017320342
RefSeq - XM_017320343
RefSeq - XM_017320344
RefSeq - XM_017320345
RefSeq Peptide - NP_001171320
RefSeq Peptide - NP_001171321
RefSeq Peptide - NP_001171322
RefSeq Peptide - NP_001171326
RefSeq Peptide - NP_001171327
RefSeq Peptide - NP_001277296
RefSeq Peptide - NP_075553
RefSeq Peptide - NP_598484
RefSeq Peptide - NP_001171323
RefSeq Peptide - NP_001171324
RefSeq Peptide - NP_001171325
swissprot - A2AL74
swissprot - Q3TU40
swissprot - Q6P8S1
swissprot - Q8CBM2
swissprot - Q8BSY0
swissprot - Q9CR06
swissprot - A2AL71
swissprot - A2AL85
swissprot - A2AL83
swissprot - A2AL81
swissprot - A2AL79
swissprot - A2AL78
swissprot - A2AL77
swissprot - A2AL76
swissprot - A2AL75
Ensembl - ENSMUSG00000028207
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 unm_hu7910ENSDARG00000078703Danio rerio
 ASPHENSGALG00000030112Gallus gallus
 ASPHENSG00000198363Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Asphd2 / Q80VP9 / Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript variant 6, mRNA. / Q6ICH7* / aspartate beta-hydroxylase domain containing 2*ENSMUSG0000002934810
Asphd1 / Q2TA57 / Aspartate beta-hydroxylase domain-containing protein 1 / Q5U4P2* / aspartate beta-hydroxylase domain containing 1*ENSMUSG0000004637810


Protein motifs (from Interpro)
Interpro ID Name
 IPR007803  Aspartyl/asparaginy/proline hydroxylase
 IPR007943  Aspartyl beta-hydroxylase/Triadin domain
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR019734  Tetratricopeptide repeat
 IPR027443  Isopenicillin N synthase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0008285 negative regulation of cell proliferation IGI
 biological_processGO:0010524 positive regulation of calcium ion transport into cytosol ISO
 biological_processGO:0018193 peptidyl-amino acid modification IEA
 biological_processGO:0031585 regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISO
 biological_processGO:0031647 regulation of protein stability IDA
 biological_processGO:0032237 activation of store-operated calcium channel activity ISO
 biological_processGO:0033198 response to ATP ISO
 biological_processGO:0035108 limb morphogenesis IMP
 biological_processGO:0042264 peptidyl-aspartic acid hydroxylation IDA
 biological_processGO:0045862 positive regulation of proteolysis IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISO
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:0060325 face morphogenesis IMP
 biological_processGO:0070588 calcium ion transmembrane transport ISO
 biological_processGO:0071277 cellular response to calcium ion ISO
 biological_processGO:0090316 positive regulation of intracellular protein transport ISO
 biological_processGO:0097202 activation of cysteine-type endopeptidase activity IEA
 biological_processGO:1901879 regulation of protein depolymerization IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane ISO
 cellular_componentGO:0032541 cortical endoplasmic reticulum IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 molecular_functionGO:0004597 peptide-aspartate beta-dioxygenase activity ISS
 molecular_functionGO:0005509 calcium ion binding ISO
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels
Ion homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

Allelic Composition: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

Allelic Composition: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

Allelic Composition: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0001629 abnormal heart rate "greater than or fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 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: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0004484 altered response of heart to induced stress "change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0005599 increased cardiac muscle contractility "greater than the normal ability of the heart muscle to shorten or to develop increased tension " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0006141 abnormal atrioventricular node conduction "anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle " [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0008950 ventricular tachycardia "paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0010279 increased gastrointestinal tumor incidence "greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: ApcMin/ApcMin,Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * C57BL/6NTac

  


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






 

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