ENSG00000130066


Homo sapiens

Features
Gene ID: ENSG00000130066
  
Biological name :SAT1
  
Synonyms : P21673 / SAT1 / spermidine/spermine N1-acetyltransferase 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.11
Gene start: 23783173
Gene end: 23786226
  
Corresponding Affymetrix probe sets: 203455_s_at (Human Genome U133 Plus 2.0 Array)   210592_s_at (Human Genome U133 Plus 2.0 Array)   213988_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368553
Ensembl peptide - ENSP00000368572
Ensembl peptide - ENSP00000368556
Ensembl peptide - ENSP00000368555
NCBI entrez gene - 6303     See in Manteia.
OMIM - 313020
RefSeq - NM_002970
RefSeq Peptide - NP_002961
swissprot - E9PD37
swissprot - A6NM56
swissprot - A6NJE6
swissprot - P21673
Ensembl - ENSG00000130066
  
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
 SAT1ENSGALG00000016348Gallus gallus
 Sat1ENSMUSG00000025283Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SAT2 / Q96F10 / spermidine/spermine N1-acetyltransferase family member 2ENSG0000014150446
SATL1 / Q86VE3 / spermidine/spermine N1-acetyl transferase like 1ENSG0000018478833


Protein motifs (from Interpro)
Interpro ID Name
 IPR000182  GNAT domain
 IPR016181  Acyl-CoA N-acyltransferase
 IPR032957  Diamine acetyltransferase 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEP
 biological_processGO:0006595 polyamine metabolic process IEA
 biological_processGO:0006596 polyamine biosynthetic process TAS
 biological_processGO:0006598 polyamine catabolic process IEA
 biological_processGO:0009447 putrescine catabolic process IEA
 biological_processGO:0032918 spermidine acetylation IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0046208 spermine catabolic process IBA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0004145 diamine N-acetyltransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008080 N-acetyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0019809 spermidine binding IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Interconversion of polyamines


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000491 Keratitis "Inflammation of the cornea." [HPO:curators]
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 HP:0000498 Blepharitis "Inflammation of the eyelids." [HPO:curators]
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 HP:0000509 Conjunctivitis "Inflammation of the conjunctiva." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0000656 Ectropion "An abnormal turning outward of the lower eyelid." [HPO:sdoelken]
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 HP:0000958 Dry skin 
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001041 Facial erythema 
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 HP:0001131 Corneal dystrophy 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0002164 Nail dysplasia 
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 HP:0004552 scarring alopecia of scalp 
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 HP:0007502 Follicular hyperkeratosis 
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 HP:0008391 Mildly dystrophic fingernails 
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 HP:0025084 Folliculitis "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule." []
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 HP:0030054 Perifollicular fibrosis "Presence of excess fibrous connective tissue surrounding hair follicules." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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