ENSG00000198363


Homo sapiens

Features
Gene ID: ENSG00000198363
  
Biological name :ASPH
  
Synonyms : aspartate beta-hydroxylase / ASPH / Q12797
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q12.3
Gene start: 61500556
Gene end: 61714640
  
Corresponding Affymetrix probe sets: 205808_at (Human Genome U133 Plus 2.0 Array)   207284_s_at (Human Genome U133 Plus 2.0 Array)   209135_at (Human Genome U133 Plus 2.0 Array)   210896_s_at (Human Genome U133 Plus 2.0 Array)   224996_at (Human Genome U133 Plus 2.0 Array)   225008_at (Human Genome U133 Plus 2.0 Array)   229879_at (Human Genome U133 Plus 2.0 Array)   230429_at (Human Genome U133 Plus 2.0 Array)   242037_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429718
Ensembl peptide - ENSP00000429286
Ensembl peptide - ENSP00000429743
Ensembl peptide - ENSP00000483443
Ensembl peptide - ENSP00000479945
Ensembl peptide - ENSP00000479830
Ensembl peptide - ENSP00000478706
Ensembl peptide - ENSP00000437864
Ensembl peptide - ENSP00000436188
Ensembl peptide - ENSP00000430516
Ensembl peptide - ENSP00000430245
Ensembl peptide - ENSP00000429954
Ensembl peptide - ENSP00000348841
Ensembl peptide - ENSP00000368762
Ensembl peptide - ENSP00000368767
Ensembl peptide - ENSP00000373856
Ensembl peptide - ENSP00000394013
Ensembl peptide - ENSP00000427823
Ensembl peptide - ENSP00000427877
Ensembl peptide - ENSP00000428060
Ensembl peptide - ENSP00000429160
NCBI entrez gene - 444     See in Manteia.
OMIM - 600582
RefSeq - XM_017013447
RefSeq - XM_017013423
RefSeq - XM_017013424
RefSeq - XM_017013425
RefSeq - XM_017013426
RefSeq - XM_017013427
RefSeq - XM_017013428
RefSeq - XM_017013429
RefSeq - XM_017013430
RefSeq - XM_017013431
RefSeq - XM_017013432
RefSeq - XM_017013433
RefSeq - XM_017013434
RefSeq - XM_017013435
RefSeq - XM_017013436
RefSeq - XM_017013437
RefSeq - XM_017013438
RefSeq - XM_017013439
RefSeq - XM_017013440
RefSeq - XM_017013441
RefSeq - XM_017013442
RefSeq - XM_017013443
RefSeq - XM_017013444
RefSeq - XM_017013445
RefSeq - XM_017013446
RefSeq - NM_001164750
RefSeq - NM_001164751
RefSeq - NM_001164752
RefSeq - NM_001164753
RefSeq - NM_001164754
RefSeq - NM_001164755
RefSeq - NM_001164756
RefSeq - NM_004318
RefSeq - NM_020164
RefSeq - NM_032466
RefSeq - NM_032467
RefSeq - NM_032468
RefSeq - XM_005251235
RefSeq - XM_005251236
RefSeq - XM_005251238
RefSeq - XM_005251239
RefSeq - XM_005251240
RefSeq - XM_005251242
RefSeq - XM_005251243
RefSeq - XM_005251244
RefSeq - XM_005251246
RefSeq - XM_005251247
RefSeq - XM_005251248
RefSeq - XM_005251250
RefSeq - XM_017013419
RefSeq - XM_017013420
RefSeq - XM_017013421
RefSeq - XM_017013422
RefSeq Peptide - NP_001158223
RefSeq Peptide - NP_001158224
RefSeq Peptide - NP_001158225
RefSeq Peptide - NP_001158226
RefSeq Peptide - NP_001158227
RefSeq Peptide - NP_001158228
RefSeq Peptide - NP_004309
RefSeq Peptide - NP_064549
RefSeq Peptide - NP_115855
RefSeq Peptide - NP_115856
RefSeq Peptide - NP_115857
RefSeq Peptide - NP_001158222
swissprot - A0A087WUJ2
swissprot - E5RHK2
swissprot - E5RHJ2
swissprot - E5RG56
swissprot - E5RG29
swissprot - A0A0A0MSK8
swissprot - A0A087X0J4
swissprot - A0A087WW51
swissprot - A0A087WW05
swissprot - G3XAN5
swissprot - E5RJL3
swissprot - Q12797
Ensembl - ENSG00000198363
  
Related genetic diseases (OMIM): 601552 - Traboulsi syndrome, 601552
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
 unm_hu7910ENSDARG00000078703Danio rerio
 ASPHENSGALG00000030112Gallus gallus
 AsphENSMUSG00000028207Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ASPHD2 / Q6ICH7 / aspartate beta-hydroxylase domain containing 2ENSG0000012820311
ASPHD1 / Q5U4P2 / aspartate beta-hydroxylase domain containing 1ENSG0000017493911


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:0006936 muscle contraction TAS
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0018193 peptidyl-amino acid modification IEA
 biological_processGO:0022900 electron transport chain IEA
 biological_processGO:0031647 regulation of protein stability IEA
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0035108 limb morphogenesis IEA
 biological_processGO:0042264 peptidyl-aspartic acid hydroxylation IEA
 biological_processGO:0045862 positive regulation of proteolysis IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0097202 activation of cysteine-type endopeptidase activity IDA
 biological_processGO:1901879 regulation of protein depolymerization IEA
 biological_processGO:1903779 regulation of cardiac conduction TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0032541 cortical endoplasmic reticulum IDA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 molecular_functionGO:0004597 peptide-aspartate beta-dioxygenase activity TAS
 molecular_functionGO:0005198 structural molecule activity TAS
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008307 structural constituent of muscle TAS
 molecular_functionGO:0009055 electron transfer activity TAS
 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
 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]
Show

 HP:0000278 Retrognathia 
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 HP:0000444 Beaked nose 
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 HP:0000445 Broad nose 
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 HP:0000448 Prominent nose 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000689 Dental malocclusion "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]
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 HP:0001083 Ectopia lentis 
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 HP:0001089 Iris atrophy 
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 HP:0001999 Facial dysmorphism 
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 HP:0003683 Large beaked nose 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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