ENSG00000197417


Homo sapiens

Features
Gene ID: ENSG00000197417
  
Biological name :SHPK
  
Synonyms : Q9UHJ6 / sedoheptulokinase / SHPK
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.2
Gene start: 3608262
Gene end: 3636322
  
Corresponding Affymetrix probe sets: 219712_s_at (Human Genome U133 Plus 2.0 Array)   219713_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000225519
NCBI entrez gene - 23729     See in Manteia.
OMIM - 605060
RefSeq - NM_013276
RefSeq Peptide - NP_037408
swissprot - Q9UHJ6
Ensembl - ENSG00000197417
  
Related genetic diseases (OMIM): 617213 - [Sedoheptulokinase deficiency], 617213
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
 shpkENSDARG00000002355Danio rerio
 ENSGALG00000004637Gallus gallus
 ShpkENSMUSG00000005951Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC027796.3ENSG00000262304100


Protein motifs (from Interpro)
Interpro ID Name
 IPR018484  Carbohydrate kinase, FGGY, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process TAS
 biological_processGO:0006098 pentose-phosphate shunt TAS
 biological_processGO:0009052 pentose-phosphate shunt, non-oxidative branch ISS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0035963 cellular response to interleukin-13 ISS
 biological_processGO:0043030 regulation of macrophage activation ISS
 biological_processGO:0050727 regulation of inflammatory response ISS
 biological_processGO:0071222 cellular response to lipopolysaccharide IDA
 biological_processGO:0071353 cellular response to interleukin-4 ISS
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016773 phosphotransferase activity, alcohol group as acceptor IEA
 molecular_functionGO:0050277 sedoheptulokinase activity TAS


Pathways (from Reactome)
Pathway description
Pentose phosphate pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000023 Inguinal hernia 
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 HP:0000083 Renal failure 
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 HP:0000091 Abnormality of the renal tubules 
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 HP:0000239 Large fontanelles "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000586 Shallow orbits 
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 HP:0000601 Hypotelorism 
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 HP:0001385 Hip dysplasia 
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 HP:0001409 Portal hypertension 
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 HP:0001540 Diastasis recti 
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 HP:0001623 breech presentation 
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 HP:0002119 Ventriculomegaly 
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 HP:0002570 Steatorrhea 
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 HP:0002611 Cholestatic liver disease 
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004840 hypochromic, microcytic anemia 
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 HP:0008850 Postnatal growth retardation, severe 
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 HP:0011400 Abnormal CNS myelination "An abnormality of `myelination` (GO:0042552) of nerves in the central nervous system." [DDD:fmuntoni]
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 HP:0011998 Postprandial hyperglycemia "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson]
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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 HP:0012157 Subcortical cerebral atrophy "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998]
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 HP:0012768 Neonatal asphyxia "Respiratory failure in the newborn." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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