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UniProtKB - Q6P1M0 (S27A4_HUMAN)

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Protein

Long-chain fatty acid transport protein 4

Gene

SLC27A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi243 – 254AMPSequence analysisAdd BLAST12

GO - Molecular functioni

Complete GO annotation...

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
  • transport Source: ProtInc
  • very long-chain fatty acid catabolic process Source: Ensembl
Complete GO annotation...

Keywordsi

Molecular functionLigase
Biological processFatty acid metabolism, Lipid metabolism, Lipid transport, Transport
LigandNucleotide-binding

Enzyme and pathway databases

BRENDAi6.2.1.3. 2681.
ReactomeiR-HSA-804914. Transport of fatty acids.

Protein family/group databases

TCDBi4.C.1.1.10. the fatty acid transporter (fat) family.

Chemistry databases

SwissLipidsiSLP: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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:10998. SLC27A4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei20 – 42HelicalSequence analysisAdd BLAST23
Transmembranei139 – 156HelicalSequence analysisAdd BLAST18

GO - Cellular componenti

  • brush border membrane Source: Ensembl
  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • microvillus Source: Ensembl
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & 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:608649
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06319292A → T in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853132Ensembl.1
Natural variantiVAR_063193247S → P in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853133Ensembl.1
Natural variantiVAR_063194300Q → R in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853134Ensembl.1
Natural variantiVAR_064500374R → C in IPS. 1 PublicationCorresponds to variant dbSNP:rs768495407Ensembl.1
Natural variantiVAR_063195583R → H in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853135Ensembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi10999.
MalaCardsiSLC27A4.
MIMi608649. phenotype.
OpenTargetsiENSG00000167114.
Orphaneti88621. Ichthyosis prematurity syndrome.
PharmGKBiPA35872.

Chemistry databases

ChEMBLiCHEMBL4327.
GuidetoPHARMACOLOGYi1111.

Polymorphism and mutation databases

BioMutaiSLC27A4.
DMDMi74749065.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001932091 – 643Long-chain fatty acid transport protein 4Add BLAST643

Proteomic databases

EPDiQ6P1M0.
MaxQBiQ6P1M0.
PaxDbiQ6P1M0.
PeptideAtlasiQ6P1M0.
PRIDEiQ6P1M0.

PTM databases

iPTMnetiQ6P1M0.
PhosphoSitePlusiQ6P1M0.
SwissPalmiQ6P1M0.

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

BgeeiENSG00000167114.
CleanExiHS_SLC27A4.
ExpressionAtlasiQ6P1M0. baseline and differential.
GenevisibleiQ6P1M0. HS.

Organism-specific databases

HPAiCAB009771.
HPA007293.

Interactioni

Protein-protein interaction databases

BioGridi116192. 15 interactors.
IntActiQ6P1M0. 22 interactors.
MINTiMINT-8376036.
STRINGi9606.ENSP00000300456.

Chemistry databases

BindingDBiQ6P1M0.

Structurei

3D structure databases

ProteinModelPortaliQ6P1M0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATP-dependent AMP-binding enzyme family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1179. Eukaryota.
ENOG410XQ8T. LUCA.
GeneTreeiENSGT00550000074420.
HOGENOMiHOG000044189.
HOVERGENiHBG005642.
InParanoidiQ6P1M0.
KOiK08745.
OMAiLTALWAY.
OrthoDBiEOG091G0B76.
PhylomeDBiQ6P1M0.
TreeFamiTF313430.

Family and domain databases

InterProiView protein in InterPro
IPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
IPR030304. FATP4.
IPR022272. Lipocalin_CS.
PANTHERiPTHR43107:SF4. PTHR43107:SF4. 1 hit.
PfamiView protein in Pfam
PF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
PROSITEiView protein in PROSITE
PS00455. AMP_BINDING. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative 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.

« Hide

        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
Length:643
Mass (Da):72,064
Last modified:July 5, 2004 - v1
Checksum:i95E677DB3CEB9A14
GO
Isoform 2 (identifier: Q6P1M0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MLLGASLVGV...RQCLQERRTV → MPLTLSTLLQ...ALHPGLHQDH
     77-482: Missing.

Note: No experimental confirmation available.
Show »
Length:237
Mass (Da):26,001
Checksum:i28E743004702E708
GO

Sequence cautioni

The sequence AAD11623 differs from that shown. Reason: Frameshift at positions 362, 387, 612 and 619.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti194L → P in AAD11623 (PubMed:9878842).Curated1
Sequence conflicti605G → A in AAD11623 (PubMed:9878842).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06319292A → T in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853132Ensembl.1
Natural variantiVAR_023783209G → 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_063193247S → P in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853133Ensembl.1
Natural variantiVAR_063194300Q → R in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853134Ensembl.1
Natural variantiVAR_064500374R → C in IPS. 1 PublicationCorresponds to variant dbSNP:rs768495407Ensembl.1
Natural variantiVAR_063195583R → H in IPS. 1 PublicationCorresponds to variant dbSNP:rs137853135Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0558081 – 76MLLGA…ERRTV → MPLTLSTLLQPGRIWTGRRA AEPTPGHNAAWSLSGGGAAV LQAGAETALDPGGILPVVPL LGIWRLALHPGLHQDH in isoform 2. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_05580977 – 482Missing in isoform 2. 1 PublicationAdd BLAST406

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.
CCDSiCCDS6899.1. [Q6P1M0-1]
RefSeqiNP_005085.2. NM_005094.3. [Q6P1M0-1]
XP_016869711.1. XM_017014222.1. [Q6P1M0-1]
UniGeneiHs.656699.

Genome annotation databases

EnsembliENST00000300456; ENSP00000300456; ENSG00000167114. [Q6P1M0-1]
ENST00000372870; ENSP00000361961; ENSG00000167114. [Q6P1M0-2]
GeneIDi10999.
KEGGihsa:10999.
UCSCiuc004but.4. human. [Q6P1M0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.
CCDSiCCDS6899.1. [Q6P1M0-1]
RefSeqiNP_005085.2. NM_005094.3. [Q6P1M0-1]
XP_016869711.1. XM_017014222.1. [Q6P1M0-1]
UniGeneiHs.656699.

3D structure databases

ProteinModelPortaliQ6P1M0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116192. 15 interactors.
IntActiQ6P1M0. 22 interactors.
MINTiMINT-8376036.
STRINGi9606.ENSP00000300456.

Chemistry databases

BindingDBiQ6P1M0.
ChEMBLiCHEMBL4327.
GuidetoPHARMACOLOGYi1111.
SwissLipidsiSLP:000000451.

Protein family/group databases

TCDBi4.C.1.1.10. the fatty acid transporter (fat) family.

PTM databases

iPTMnetiQ6P1M0.
PhosphoSitePlusiQ6P1M0.
SwissPalmiQ6P1M0.

Polymorphism and mutation databases

BioMutaiSLC27A4.
DMDMi74749065.

Proteomic databases

EPDiQ6P1M0.
MaxQBiQ6P1M0.
PaxDbiQ6P1M0.
PeptideAtlasiQ6P1M0.
PRIDEiQ6P1M0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300456; ENSP00000300456; ENSG00000167114. [Q6P1M0-1]
ENST00000372870; ENSP00000361961; ENSG00000167114. [Q6P1M0-2]
GeneIDi10999.
KEGGihsa:10999.
UCSCiuc004but.4. human. [Q6P1M0-1]

Organism-specific databases

CTDi10999.
DisGeNETi10999.
GeneCardsiSLC27A4.
HGNCiHGNC:10998. SLC27A4.
HPAiCAB009771.
HPA007293.
MalaCardsiSLC27A4.
MIMi604194. gene.
608649. phenotype.
neXtProtiNX_Q6P1M0.
OpenTargetsiENSG00000167114.
Orphaneti88621. Ichthyosis prematurity syndrome.
PharmGKBiPA35872.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1179. Eukaryota.
ENOG410XQ8T. LUCA.
GeneTreeiENSGT00550000074420.
HOGENOMiHOG000044189.
HOVERGENiHBG005642.
InParanoidiQ6P1M0.
KOiK08745.
OMAiLTALWAY.
OrthoDBiEOG091G0B76.
PhylomeDBiQ6P1M0.
TreeFamiTF313430.

Enzyme and pathway databases

BRENDAi6.2.1.3. 2681.
ReactomeiR-HSA-804914. Transport of fatty acids.

Miscellaneous databases

ChiTaRSiSLC27A4. human.
GeneWikiiSLC27A4.
GenomeRNAii10999.
PROiPR:Q6P1M0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167114.
CleanExiHS_SLC27A4.
ExpressionAtlasiQ6P1M0. baseline and differential.
GenevisibleiQ6P1M0. HS.

Family and domain databases

InterProiView protein in InterPro
IPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
IPR030304. FATP4.
IPR022272. Lipocalin_CS.
PANTHERiPTHR43107:SF4. PTHR43107:SF4. 1 hit.
PfamiView protein in Pfam
PF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
PROSITEiView protein in PROSITE
PS00455. AMP_BINDING. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiS27A4_HUMAN
AccessioniPrimary (citable) accession number: Q6P1M0
Secondary accession number(s): A8K2F7, O95186, Q96G53
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: July 5, 2004
Last modified: June 7, 2017
This is version 131 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.