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SLC27A4 (solute carrier family 27 member 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10999
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 27 member 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC27A4
SynonymsGene synonyms aliases
ACSVL4, ACSVL4 FATP4, FATP4, IPS
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the smal
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853131 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs137853132 G>A Pathogenic Coding sequence variant, missense variant
rs137853133 T>C Pathogenic Coding sequence variant, missense variant
rs137853134 A>G Pathogenic Coding sequence variant, missense variant
rs137853135 G>A Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023551 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT031405 hsa-miR-16-5p Proteomics 18668040
MIRT050385 hsa-miR-23a-3p CLASH 23622248
MIRT653664 hsa-miR-4798-3p HITS-CLIP 23824327
MIRT653663 hsa-miR-3680-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001579 Process Medium-chain fatty acid transport IBA 21873635
GO:0001676 Process Long-chain fatty acid metabolic process IDA 22022213
GO:0004467 Function Long-chain fatty acid-CoA ligase activity IBA 21873635
GO:0004467 Function Long-chain fatty acid-CoA ligase activity IDA 22022213
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6P1M0
Protein name Long-chain fatty acid transport protein 4 (FATP-4) (Fatty acid transport protein 4) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain-fatty-acid--CoA ligase) (EC 6.2.1.3) (Solute carrier family 27 member 4) (Very long-chain acyl-CoA synthetase 4) (ACSV
Protein function Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes (PubMed:10518211, PubMed:12556534, PubMed:20448275, PubMed:21395585, PubMed:22022213). Appears to be the principal fatty acid
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding
80 512
AMP-binding enzyme
Family
PF13193 AMP-binding_C
520 595
AMP-binding enzyme C-terminal domain
Domain
Sequence
Sequence length 643
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  PPAR signaling pathway
Insulin resistance
Fat digestion and absorption
  Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
Transport of fatty acids
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Ichthyosis prematurity syndrome ICHTHYOSIS PREMATURITY SYNDROME rs137853131, rs1588559786, rs137853132, rs137853134, rs764922350, rs587776384, rs765311079, rs758657421, rs1340721389 19631310, 20815031
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Unknown
Disease name Disease term dbSNP ID References
Congenital alveolar dysplasia Respiratory Distress Syndrome, Newborn
Eosinophilia Eosinophilia
Ichthyosis-prematurity syndrome Ichthyosis-prematurity syndrome

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