ENSG00000167114


Homo sapiens

Features
Gene ID: ENSG00000167114
  
Biological name :SLC27A4
  
Synonyms : Q6P1M0 / SLC27A4 / solute carrier family 27 member 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.11
Gene start: 128340646
Gene end: 128361470
  
Corresponding Affymetrix probe sets: 225779_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000300456
Ensembl peptide - ENSP00000361961
NCBI entrez gene - 10999     See in Manteia.
OMIM - 604194
RefSeq - NM_005094
RefSeq - XM_017014222
RefSeq Peptide - NP_005085
swissprot - A0A024R8D2
swissprot - Q6P1M0
Ensembl - ENSG00000167114
  
Related genetic diseases (OMIM): 608649 - Ichthyosis prematurity syndrome, 608649
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
 slc27a4ENSDARG00000017047Danio rerio
 SLC27A4ENSGALG00000004965Gallus gallus
 Q91VE0ENSMUSG00000059316Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6PCB7 / SLC27A1 / solute carrier family 27 member 1ENSG0000013030462
Q5K4L6 / SLC27A3 / solute carrier family 27 member 3ENSG0000014355438
Q9Y2P5 / SLC27A5 / solute carrier family 27 member 5ENSG0000008380737
Q9Y2P4 / SLC27A6 / solute carrier family 27 member 6ENSG0000011339637
O14975 / SLC27A2 / solute carrier family 27 member 2ENSG0000014028437


Protein motifs (from Interpro)
Interpro ID Name
 IPR000873  AMP-dependent synthetase/ligase
 IPR020845  AMP-binding, conserved site
 IPR022272  Lipocalin family conserved site
 IPR025110  AMP-binding enzyme, C-terminal domain
 IPR030304  Fatty acid transport protein 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000038 very long-chain fatty acid metabolic process IEA
 biological_processGO:0001579 medium-chain fatty acid transport IEA
 biological_processGO:0001676 long-chain fatty acid metabolic process IDA
 biological_processGO:0006629 lipid metabolic process TAS
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0015908 fatty acid transport TAS
 biological_processGO:0015909 long-chain fatty acid transport TAS
 biological_processGO:0042760 very long-chain fatty acid catabolic process IEA
 biological_processGO:0043588 skin development IEA
 biological_processGO:0044539 long-chain fatty acid import IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004467 long-chain fatty acid-CoA ligase activity IDA
 molecular_functionGO:0015245 fatty acid transmembrane transporter activity TAS
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0031957 very long-chain fatty acid-CoA ligase activity IEA


Pathways (from Reactome)
Pathway description
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
Transport of fatty acids


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001622 Premature birth 
Show

 HP:0001880 Eosinophilia "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken]
Show

 HP:0002643 Neonatal respiratory distress 
Show

 HP:0007549 Desquamation of skin soon after birth 
Show

 HP:0008064 Ichthyosiform abnormality of the skin 
Show

  


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






 

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