Q6P1M0 (S27A4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	643 AA.
Sequence status	Complete.
Protein existence	Evidence 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 By similarity.
Subcellular location	Membrane; Multi-pass membrane protein Probable.
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 process	Fatty acid metabolism Lipid metabolism Lipid transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Ichthyosis
Domain	Transmembrane Transmembrane helix
Ligand	Nucleotide-binding
Molecular function	Ligase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	long-chain fatty acid import Inferred from direct assay PubMed 22022213. Source: UniProtKB medium-chain fatty acid transport Inferred from electronic annotation. Source: Compara skin development Inferred from electronic annotation. Source: Compara transmembrane transport Traceable author statement. Source: Reactome very long-chain fatty acid catabolic process Inferred from electronic annotation. Source: Compara
Cellular_component	brush border membrane Inferred from electronic annotation. Source: Compara endoplasmic reticulum membrane Inferred from direct assay PubMed 22022213. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW microvillus Inferred from electronic annotation. Source: Compara plasma membrane Traceable author statement. Source: Reactome
Molecular_function	fatty 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: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 643	643	Long-chain fatty acid transport protein 4		PRO_0000193209
Regions
	Transmembrane	20 – 42	23	Helical; Potential
	Transmembrane	139 – 156	18	Helical; Potential
	Nucleotide binding	243 – 254	12	AMP Potential
Natural variations
	Natural variant	92	1	A → T in IPS. Ref.8		VAR_063192
	Natural variant	209	1	G → 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 variant	247	1	S → P in IPS. Ref.8		VAR_063193
	Natural variant	300	1	Q → R in IPS. Ref.8		VAR_063194
	Natural variant	374	1	R → C in IPS. Ref.9		VAR_064500
	Natural variant	583	1	R → H in IPS. Ref.8		VAR_063195
Experimental info
	Sequence conflict	194	1	L → P in AAD11623. Ref.1
	Sequence conflict	605	1	G → A in AAD11623. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q6P1M0 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 95E677DB3CEB9A14	FASTA	643	72,064
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00412147.
RefSeq	NP_005085.2. NM_005094.3.
UniGene	Hs.656699.
3D structure databases
ProteinModelPortal	Q6P1M0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6P1M0. 3 interactions.
MINT	MINT-8376036.
STRING	9606.ENSP00000300456.
PTM databases
PhosphoSite	Q6P1M0.
Polymorphism databases
DMDM	74749065.
Proteomic databases
PaxDb	Q6P1M0.
PRIDE	Q6P1M0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000300456; ENSP00000300456; ENSG00000167114.
GeneID	10999.
KEGG	hsa:10999.
UCSC	uc004but.3. human.
Organism-specific databases
CTD	10999.
GeneCards	GC09P131102.
HGNC	HGNC:10998. SLC27A4.
HPA	CAB009771. HPA007293.
MIM	604194. gene. 608649. phenotype.
neXtProt	NX_Q6P1M0.
Orphanet	88621. Ichthyosis prematurity syndrome.
PharmGKB	PA35872.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0318.
HOGENOM	HOG000044189.
HOVERGEN	HBG005642.
InParanoid	Q6P1M0.
KO	K08745.
OMA	FIRVFIK.
OrthoDB	EOG473PQW.
PhylomeDB	Q6P1M0.
Enzyme and pathway databases
BRENDA	6.2.1.3. 2681.
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q6P1M0.
Bgee	Q6P1M0.
CleanEx	HS_SLC27A4.
Genevestigator	Q6P1M0.
Family and domain databases
InterPro	IPR020845. AMP-binding_CS. IPR000873. AMP-dep_Synth/Lig. IPR022272. Lipocalin_CS. [Graphical view]
Pfam	PF00501. AMP-binding. 1 hit. [Graphical view]
PROSITE	PS00455. AMP_BINDING. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q6P1M0.
ChEMBL	CHEMBL4327.
GenomeRNAi	10999.
NextBio	41787.
SOURCE	Search...

Entry information

Entry name

S27A4_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 94 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.