Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q6P1M0 (S27A4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Long-chain fatty acid transport protein 4

Short name=FATP-4
Short name=Fatty acid transport protein 4
EC=6.2.1.-
Alternative name(s):
Solute carrier family 27 member 4
Gene names
Name:SLC27A4
Synonyms:ACSVL4, FATP4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length643 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Multi-pass membrane protein Probable. Endoplasmic reticulum membrane By similarity.

Tissue specificity

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. Ref.1

Involvement in disease

Ichthyosis prematurity syndrome (IPS) [MIM:608649]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9

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.

Sequence similarities

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

Sequence caution

The sequence AAD11623.1 differs from that shown. Reason: Frameshift at positions 362, 387, 612 and 619.

Ontologies

Keywords
   Biological processFatty acid metabolism
Lipid metabolism
Lipid transport
Transport
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Ichthyosis
   DomainTransmembrane
Transmembrane helix
   LigandNucleotide-binding
   Molecular functionLigase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processfatty acid transport

Traceable author statement Ref.1. Source: ProtInc

lipid metabolic process

Traceable author statement Ref.1. Source: ProtInc

long-chain fatty acid import

Inferred from direct assay PubMed 22022213. Source: UniProtKB

long-chain fatty acid metabolic process

Inferred from direct assay PubMed 22022213. Source: UniProtKB

long-chain fatty acid transport

Traceable author statement. Source: Reactome

medium-chain fatty acid transport

Inferred from electronic annotation. Source: Ensembl

response to nutrient

Inferred from electronic annotation. Source: Ensembl

skin development

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement Ref.1. Source: ProtInc

very long-chain fatty acid catabolic process

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentbrush border membrane

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum membrane

Inferred from direct assay PubMed 22022213. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

microvillus

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionfatty acid transporter activity

Traceable author statement Ref.1. Source: ProtInc

long-chain fatty acid-CoA ligase activity

Inferred from direct assay PubMed 22022213. Source: UniProtKB

nucleotide binding

Inferred from electronic annotation. Source: UniProtKB-KW

very long-chain fatty acid-CoA ligase activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 643643Long-chain fatty acid transport protein 4
PRO_0000193209

Regions

Transmembrane20 – 4223Helical; Potential
Transmembrane139 – 15618Helical; Potential
Nucleotide binding243 – 25412AMP Potential

Natural variations

Natural variant921A → T in IPS. Ref.8
VAR_063192
Natural variant2091G → S Correlates with lower body mass index, triglyceride concentrations, systolic blood pressure, insulin concentrations and homeostasis model assessment index. Ref.7
Corresponds to variant rs2240953 [ dbSNP | Ensembl ].
VAR_023783
Natural variant2471S → P in IPS. Ref.8
VAR_063193
Natural variant3001Q → R in IPS. Ref.8
VAR_063194
Natural variant3741R → C in IPS. Ref.9
VAR_064500
Natural variant5831R → H in IPS. Ref.8
VAR_063195

Experimental info

Sequence conflict1941L → P in AAD11623. Ref.1
Sequence conflict6051G → A in AAD11623. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6P1M0 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 95E677DB3CEB9A14

FASTA64372,064
        10         20         30         40         50         60 
MLLGASLVGV LLFSKLVLKL PWTQVGFSLL FLYLGSGGWR FIRVFIKTIR RDIFGGLVLL 

        70         80         90        100        110        120 
KVKAKVRQCL QERRTVPILF ASTVRRHPDK TALIFEGTDT HWTFRQLDEY SSSVANFLQA 

       130        140        150        160        170        180 
RGLASGDVAA IFMENRNEFV GLWLGMAKLG VEAALINTNL RRDALLHCLT TSRARALVFG 

       190        200        210        220        230        240 
SEMASAICEV HASLDPSLSL FCSGSWEPGA VPPSTEHLDP LLKDAPKHLP SCPDKGFTDK 

       250        260        270        280        290        300 
LFYIYTSGTT GLPKAAIVVH SRYYRMAALV YYGFRMRPND IVYDCLPLYH SAGNIVGIGQ 

       310        320        330        340        350        360 
CLLHGMTVVI RKKFSASRFW DDCIKYNCTI VQYIGELCRY LLNQPPREAE NQHQVRMALG 

       370        380        390        400        410        420 
NGLRQSIWTN FSSRFHIPQV AEFYGATECN CSLGNFDSQV GACGFNSRIL SFVYPIRLVR 

       430        440        450        460        470        480 
VNEDTMELIR GPDGVCIPCQ PGEPGQLVGR IIQKDPLRRF DGYLNQGANN KKIAKDVFKK 

       490        500        510        520        530        540 
GDQAYLTGDV LVMDELGYLY FRDRTGDTFR WKGENVSTTE VEGTLSRLLD MADVAVYGVE 

       550        560        570        580        590        600 
VPGTEGRAGM AAVASPTGNC DLERFAQVLE KELPLYARPI FLRLLPELHK TGTYKFQKTE 

       610        620        630        640 
LRKEGFDPAI VKDPLFYLDA QKGRYVPLDQ EAYSRIQAGE EKL 

« Hide

References

« Hide 'large scale' references
[1]"Tissue distribution and cDNA cloning of a human fatty acid transport protein (hsFATP4)."
Fitscher B.A., Riedel H.D., Young K.C., Stremmel W.
Biochim. Biophys. Acta 1443:381-385(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Heart.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Thalamus.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
[6]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"Genetic and structural evaluation of fatty acid transport protein-4 in relation to markers of the insulin resistance syndrome."
Gertow K., Bellanda M., Eriksson P., Boquist S., Hamsten A., Sunnerhagen M., Fisher R.M.
J. Clin. Endocrinol. Metab. 89:392-399(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-209.
[8]"Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome."
Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J.
Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583.
[9]"A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis."
Morice-Picard F., Leaute-Labreze C., Decor A., Boralevi F., Lacombe D., Taieb A., Fischer J.
Am. J. Med. Genet. A 152:2664-2665(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IPS CYS-374.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF055899 mRNA. Translation: AAD11623.1. Frameshift.
AK290222 mRNA. Translation: BAF82911.1.
AL359091 Genomic DNA. Translation: CAI13490.1.
CH471090 Genomic DNA. Translation: EAW87779.1.
BC065003 mRNA. Translation: AAH65003.1.
RefSeqNP_005085.2. NM_005094.3.
UniGeneHs.656699.

3D structure databases

ProteinModelPortalQ6P1M0.
SMRQ6P1M0. Positions 79-615.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116192. 5 interactions.
IntActQ6P1M0. 4 interactions.
MINTMINT-8376036.
STRING9606.ENSP00000300456.

Chemistry

BindingDBQ6P1M0.
ChEMBLCHEMBL4327.

Protein family/group databases

TCDB4.C.1.1.10. the proposed fatty acid transporter (fat) family.

PTM databases

PhosphoSiteQ6P1M0.

Polymorphism databases

DMDM74749065.

Proteomic databases

PaxDbQ6P1M0.
PRIDEQ6P1M0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300456; ENSP00000300456; ENSG00000167114.
GeneID10999.
KEGGhsa:10999.
UCSCuc004but.3. human.

Organism-specific databases

CTD10999.
GeneCardsGC09P131102.
HGNCHGNC:10998. SLC27A4.
HPACAB009771.
HPA007293.
MIM604194. gene.
608649. phenotype.
neXtProtNX_Q6P1M0.
Orphanet88621. Ichthyosis prematurity syndrome.
PharmGKBPA35872.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0318.
HOGENOMHOG000044189.
HOVERGENHBG005642.
InParanoidQ6P1M0.
KOK08745.
OMAVMYDCLP.
OrthoDBEOG7W6WKB.
PhylomeDBQ6P1M0.
TreeFamTF313430.

Enzyme and pathway databases

BRENDA6.2.1.3. 2681.
ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ6P1M0.
BgeeQ6P1M0.
CleanExHS_SLC27A4.
GenevestigatorQ6P1M0.

Family and domain databases

InterProIPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
IPR022272. Lipocalin_CS.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view]
PROSITEPS00455. AMP_BINDING. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC27A4.
GenomeRNAi10999.
NextBio41787.
PROQ6P1M0.
SOURCESearch...

Entry information

Entry nameS27A4_HUMAN
AccessionPrimary (citable) accession number: Q6P1M0
Secondary accession number(s): A8K2F7, O95186
Entry history
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM