UniProtKB - Q6P1M0 (S27A4_HUMAN)
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Protein
Long-chain fatty acid transport protein 4
Gene
SLC27A4
Organism
Homo sapiens (Human)
Status
Functioni
Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity).By similarity
Miscellaneous
SLC27A4/FATP4-mediated fatty acid uptake is associated to paramaters related to insulin resistance, which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. SLC27A4/FATP4 expression is positively correlated with acquired obesity.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 243 – 254 | AMPSequence analysisAdd BLAST | 12 |
GO - Molecular functioni
- fatty acid transmembrane transporter activity Source: Reactome
- long-chain fatty acid-CoA ligase activity Source: UniProtKB
- nucleotide binding Source: UniProtKB-KW
- very long-chain fatty acid-CoA ligase activity Source: Ensembl
GO - Biological processi
- fatty acid transport Source: ProtInc
- lipid metabolic process Source: ProtInc
- long-chain fatty acid import Source: UniProtKB
- long-chain fatty acid metabolic process Source: UniProtKB
- long-chain fatty acid transport Source: Reactome
- medium-chain fatty acid transport Source: Ensembl
- response to nutrient Source: Ensembl
- skin development Source: Ensembl
- very long-chain fatty acid catabolic process Source: Ensembl
Keywordsi
Molecular function | Ligase |
Biological process | Fatty acid metabolism, Lipid metabolism, Lipid transport, Transport |
Ligand | Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 6.2.1.3. 2681. |
Reactomei | R-HSA-5619108. Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS). R-HSA-804914. Transport of fatty acids. |
Protein family/group databases
TCDBi | 4.C.1.1.10. the fatty acid transporter (fat) family. |
Chemistry databases
SwissLipidsi | SLP:000000451. |
Names & Taxonomyi
Protein namesi | Recommended name: Long-chain fatty acid transport protein 4 (EC:6.2.1.-)Short name: FATP-4 Short name: Fatty acid transport protein 4 Alternative name(s): Solute carrier family 27 member 4 |
Gene namesi | Name:SLC27A4 Synonyms:ACSVL4, FATP4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000167114.12. |
HGNCi | HGNC:10998. SLC27A4. |
MIMi | 604194. gene. |
neXtProti | NX_Q6P1M0. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 20 – 42 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 139 – 156 | HelicalSequence analysisAdd BLAST | 18 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Ichthyosis prematurity syndrome (IPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations.
See also OMIM:608649Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063192 | 92 | A → T in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853132Ensembl. | 1 | |
Natural variantiVAR_063193 | 247 | S → P in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853133Ensembl. | 1 | |
Natural variantiVAR_063194 | 300 | Q → R in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853134Ensembl. | 1 | |
Natural variantiVAR_064500 | 374 | R → C in IPS. 1 PublicationCorresponds to variant dbSNP:rs768495407Ensembl. | 1 | |
Natural variantiVAR_063195 | 583 | R → H in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853135Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, IchthyosisOrganism-specific databases
DisGeNETi | 10999. |
MalaCardsi | SLC27A4. |
MIMi | 608649. phenotype. |
OpenTargetsi | ENSG00000167114. |
Orphaneti | 88621. Ichthyosis prematurity syndrome. |
PharmGKBi | PA35872. |
Chemistry databases
ChEMBLi | CHEMBL4327. |
GuidetoPHARMACOLOGYi | 1111. |
Polymorphism and mutation databases
BioMutai | SLC27A4. |
DMDMi | 74749065. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000193209 | 1 – 643 | Long-chain fatty acid transport protein 4Add BLAST | 643 |
Proteomic databases
EPDi | Q6P1M0. |
MaxQBi | Q6P1M0. |
PaxDbi | Q6P1M0. |
PeptideAtlasi | Q6P1M0. |
PRIDEi | Q6P1M0. |
PTM databases
iPTMneti | Q6P1M0. |
PhosphoSitePlusi | Q6P1M0. |
SwissPalmi | Q6P1M0. |
Expressioni
Tissue specificityi
Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue.1 Publication
Gene expression databases
Bgeei | ENSG00000167114. |
CleanExi | HS_SLC27A4. |
ExpressionAtlasi | Q6P1M0. baseline and differential. |
Genevisiblei | Q6P1M0. HS. |
Organism-specific databases
HPAi | CAB009771. HPA007293. |
Interactioni
Protein-protein interaction databases
BioGridi | 116192. 25 interactors. |
IntActi | Q6P1M0. 23 interactors. |
MINTi | Q6P1M0. |
STRINGi | 9606.ENSP00000300456. |
Chemistry databases
BindingDBi | Q6P1M0. |
Family & Domainsi
Sequence similaritiesi
Belongs to the ATP-dependent AMP-binding enzyme family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1179. Eukaryota. ENOG410XQ8T. LUCA. |
GeneTreei | ENSGT00550000074420. |
HOGENOMi | HOG000044189. |
HOVERGENi | HBG005642. |
InParanoidi | Q6P1M0. |
KOi | K08745. |
OMAi | FQGYYGN. |
OrthoDBi | EOG091G0B76. |
PhylomeDBi | Q6P1M0. |
TreeFami | TF313430. |
Family and domain databases
CDDi | cd05939. hsFATP4_like. 1 hit. |
InterProi | View protein in InterPro IPR025110. AMP-bd_C. IPR020845. AMP-binding_CS. IPR000873. AMP-dep_Synth/Lig. IPR030304. FATP4. IPR022272. Lipocalin_CS. |
PANTHERi | PTHR43107:SF11. PTHR43107:SF11. 1 hit. |
Pfami | View protein in Pfam PF00501. AMP-binding. 1 hit. PF13193. AMP-binding_C. 1 hit. |
PROSITEi | View protein in PROSITE PS00455. AMP_BINDING. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6P1M0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MLLGASLVGV LLFSKLVLKL PWTQVGFSLL FLYLGSGGWR FIRVFIKTIR
60 70 80 90 100
RDIFGGLVLL KVKAKVRQCL QERRTVPILF ASTVRRHPDK TALIFEGTDT
110 120 130 140 150
HWTFRQLDEY SSSVANFLQA RGLASGDVAA IFMENRNEFV GLWLGMAKLG
160 170 180 190 200
VEAALINTNL RRDALLHCLT TSRARALVFG SEMASAICEV HASLDPSLSL
210 220 230 240 250
FCSGSWEPGA VPPSTEHLDP LLKDAPKHLP SCPDKGFTDK LFYIYTSGTT
260 270 280 290 300
GLPKAAIVVH SRYYRMAALV YYGFRMRPND IVYDCLPLYH SAGNIVGIGQ
310 320 330 340 350
CLLHGMTVVI RKKFSASRFW DDCIKYNCTI VQYIGELCRY LLNQPPREAE
360 370 380 390 400
NQHQVRMALG NGLRQSIWTN FSSRFHIPQV AEFYGATECN CSLGNFDSQV
410 420 430 440 450
GACGFNSRIL SFVYPIRLVR VNEDTMELIR GPDGVCIPCQ PGEPGQLVGR
460 470 480 490 500
IIQKDPLRRF DGYLNQGANN KKIAKDVFKK GDQAYLTGDV LVMDELGYLY
510 520 530 540 550
FRDRTGDTFR WKGENVSTTE VEGTLSRLLD MADVAVYGVE VPGTEGRAGM
560 570 580 590 600
AAVASPTGNC DLERFAQVLE KELPLYARPI FLRLLPELHK TGTYKFQKTE
610 620 630 640
LRKEGFDPAI VKDPLFYLDA QKGRYVPLDQ EAYSRIQAGE EKL
Sequence cautioni
The sequence AAD11623 differs from that shown. Reason: Frameshift at positions 362, 387, 612 and 619.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 194 | L → P in AAD11623 (PubMed:9878842).Curated | 1 | |
Sequence conflicti | 605 | G → A in AAD11623 (PubMed:9878842).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063192 | 92 | A → T in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853132Ensembl. | 1 | |
Natural variantiVAR_023783 | 209 | G → S Correlates with lower body mass index, triglyceride concentrations, systolic blood pressure, insulin concentrations and homeostasis model assessment index. 1 PublicationCorresponds to variant dbSNP:rs2240953Ensembl. | 1 | |
Natural variantiVAR_063193 | 247 | S → P in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853133Ensembl. | 1 | |
Natural variantiVAR_063194 | 300 | Q → R in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853134Ensembl. | 1 | |
Natural variantiVAR_064500 | 374 | R → C in IPS. 1 PublicationCorresponds to variant dbSNP:rs768495407Ensembl. | 1 | |
Natural variantiVAR_063195 | 583 | R → H in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853135Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055808 | 1 – 76 | MLLGA…ERRTV → MPLTLSTLLQPGRIWTGRRA AEPTPGHNAAWSLSGGGAAV LQAGAETALDPGGILPVVPL LGIWRLALHPGLHQDH in isoform 2. 1 PublicationAdd BLAST | 76 | |
Alternative sequenceiVSP_055809 | 77 – 482 | Missing in isoform 2. 1 PublicationAdd BLAST | 406 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF055899 mRNA. Translation: AAD11623.1. Frameshift. AK290222 mRNA. Translation: BAF82911.1. AL359091 Genomic DNA. No translation available. CH471090 Genomic DNA. Translation: EAW87779.1. BC009959 mRNA. Translation: AAH09959.1. BC065003 mRNA. Translation: AAH65003.1. |
CCDSi | CCDS6899.1. [Q6P1M0-1] |
RefSeqi | NP_005085.2. NM_005094.3. [Q6P1M0-1] XP_016869711.1. XM_017014222.1. [Q6P1M0-1] |
UniGenei | Hs.656699. |
Genome annotation databases
Ensembli | ENST00000300456; ENSP00000300456; ENSG00000167114. [Q6P1M0-1] ENST00000372870; ENSP00000361961; ENSG00000167114. [Q6P1M0-2] |
GeneIDi | 10999. |
KEGGi | hsa:10999. |
UCSCi | uc004but.4. human. [Q6P1M0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | S27A4_HUMAN | |
Accessioni | Q6P1M0Primary (citable) accession number: Q6P1M0 Secondary accession number(s): A8K2F7, O95186, Q96G53 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 22, 2005 |
Last sequence update: | July 5, 2004 | |
Last modified: | March 28, 2018 | |
This is version 138 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |