ENSG00000124302


Homo sapiens

Features
Gene ID: ENSG00000124302
  
Biological name :CHST8
  
Synonyms : carbohydrate sulfotransferase 8 / CHST8 / Q9H2A9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.11
Gene start: 33621955
Gene end: 33773509
  
Corresponding Affymetrix probe sets: 221065_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262622
Ensembl peptide - ENSP00000392604
Ensembl peptide - ENSP00000393879
Ensembl peptide - ENSP00000467012
NCBI entrez gene - 64377     See in Manteia.
OMIM - 610190
RefSeq - XM_017027143
RefSeq - NM_001127895
RefSeq - NM_001127896
RefSeq - NM_022467
RefSeq - XM_011527222
RefSeq - XM_011527224
RefSeq Peptide - NP_071912
RefSeq Peptide - NP_001121367
RefSeq Peptide - NP_001121368
swissprot - Q9H2A9
swissprot - K7ENM3
Ensembl - ENSG00000124302
  
Related genetic diseases (OMIM): 616265 - ?Peeling skin syndrome 3, 616265
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
 si:ch211-269c21.2ENSDARG00000074560Danio rerio
 CHST8ENSGALG00000004903Gallus gallus
 Chst8ENSMUSG00000060402Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHST9 / Q7L1S5 / carbohydrate sulfotransferase 9ENSG0000015408049
CHST12 / Q9NRB3 / carbohydrate sulfotransferase 12ENSG0000013621330
CHST11 / Q9NPF2 / carbohydrate sulfotransferase 11ENSG0000017131029
CHST13 / Q8NET6 / carbohydrate sulfotransferase 13ENSG0000018076728
CHST14 / Q8NCH0 / carbohydrate sulfotransferase 14ENSG0000016910527
CHST10 / O43529 / carbohydrate sulfotransferase 10ENSG0000011552625


Protein motifs (from Interpro)
Interpro ID Name
 IPR005331  Sulfotransferase
 IPR018011  Carbohydrate sulfotransferase 8-10


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006790 sulfur compound metabolic process IDA
 biological_processGO:0007417 central nervous system development NAS
 biological_processGO:0016051 carbohydrate biosynthetic process IEA
 biological_processGO:0030166 proteoglycan biosynthetic process IDA
 biological_processGO:0042446 hormone biosynthetic process IEP
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 molecular_functionGO:0001537 N-acetylgalactosamine 4-O-sulfotransferase activity TAS
 molecular_functionGO:0008146 sulfotransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Reactions specific to the complex N-glycan synthesis pathway


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:0040190 White scaling skin 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000135346 CGA / P01215 / glycoprotein hormones, alpha polypeptide  / reaction
 ENSG00000104826 LHB / P01229 / luteinizing hormone beta polypeptide  / reaction






 

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