Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10999 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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SLC27A4 |
SynonymsGene synonyms aliases
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ACSVL4, ACSVL4 FATP4, FATP4, IPS |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q34.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs368207076 |
T>G |
Pathogenic |
Splice donor variant |
rs758657421 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs764922350 |
A>G |
Pathogenic |
Splice acceptor variant |
rs765311079 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs869312967 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1340721389 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1588559786 |
G>A |
Pathogenic |
Splice acceptor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital alveolar dysplasia |
Respiratory Distress Syndrome, Newborn |
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Eosinophilia |
Eosinophilia |
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Ichthyosis-prematurity syndrome |
Ichthyosis-prematurity syndrome |
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