SLC27A6 (solute carrier family 27 member 6)

Gene

• Entrez ID: 28965
• Gene name: Solute carrier family 27 member 6
• Gene symbol: SLC27A6
• Synonyms (NCBI Gene): ACSVL2, FACVL2, FATP6, VLCS-H1
• Chromosome: 5
• Chromosome location: 5q23.3
• Summary: This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been fou

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017231	hsa-miR-335-5p	Microarray	18185580
MIRT029105	hsa-miR-26b-5p	Microarray	19088304
MIRT1358077	hsa-miR-4282	CLIP-seq
MIRT1358078	hsa-miR-4477a	CLIP-seq
MIRT1358079	hsa-miR-4477b	CLIP-seq
MIRT1358080	hsa-miR-4668-3p	CLIP-seq
MIRT1358081	hsa-miR-4795-3p	CLIP-seq
MIRT1358082	hsa-miR-491-3p	CLIP-seq
MIRT1358083	hsa-miR-501-3p	CLIP-seq
MIRT1358084	hsa-miR-502-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	TAS	10471116
GO:0000166	Function	Nucleotide binding	IEA
GO:0001676	Process	Long-chain fatty acid metabolic process	IBA
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IBA
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IEA
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	TAS	10471116
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0015245	Function	Fatty acid transmembrane transporter activity	IEA
GO:0015245	Function	Fatty acid transmembrane transporter activity	TAS
GO:0015909	Process	Long-chain fatty acid transport	IEA
GO:0015909	Process	Long-chain fatty acid transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0044539	Process	Long-chain fatty acid import into cell	IBA
GO:0047676	Function	Arachidonate-CoA ligase activity	IEA

Other IDs

• MIM: 604196
• HGNC: 11000
• e!Ensembl: ENSG00000113396

Protein

• UniProt ID: Q9Y2P4
• Protein name: Long-chain fatty acid transport protein 6 (FATP-6) (Fatty acid transport protein 6) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Fatty-acid-coenzyme A ligase, very long-chain 2) (Long-chain-fatty-acid--CoA ligase) (EC 6.2.1.3) (Solute carrier family 27 membe
• Protein function: Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport at the plasma membrane (PubMed:12556534). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00501	AMP-binding	60 → 487	AMP-binding enzyme	Family
  PF13193	AMP-binding_C	495 → 571	AMP-binding enzyme C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in heart and localizes to cardiac myocytes (PubMed:12556534). Expressed at moderate levels in placenta, testis, and adrenal glands. Expressed at very low levels in kidney, bladder and uterus. {ECO:0000269|PubMed:1255
• Sequence:

  MLLSWLTVLGAGMVVLHFLQKLLFPYFWDDFWFVLKVVLIIIRLKKYEKRGELVTVLDKF
  LSHAKRQPRKPFIIYEGDIYTYQDVDKRSSRVAHVFLNHSSLKKGDTVALLMSNEPDFVH
  VWFGLAKLGCVVAFLNTNIRSNSLLNCIRACGPRALVVGADLLGTVEEILPSLSENISVW
  GMKDSVPQGVISLKEKLSTSPDEPVPRSHHVVSLLKSTCLYIFTSGTTGLPKAAVISQLQ
  VLRGSAVLWAFGCTAHDIVYITLPLYHSSAAILGISGCVELGATCVLKKKFSASQFWSDC
  KKYDVTVFQYIGELCRYLCKQSKREGEKDHKVRLAIGNGIRSDVWREFLDRFGNIKVCEL
  YAATESSISFMNYTGRIGAIGRTNLFYKLLSTFDLIKYDFQKDEPMRNEQGWCIHVKKGE
  PGLLISRVNAKNPFFGYAGPYKHTKDKLLCDVFKKGDVYLNTGDLIVQDQDNFLYFWDRT
  GDTFRWKGENVATTEVADVIGMLDFIQEANVYGVAISGYEGRAGMASIILKPNTSLDLEK
  VYEQVVTFLPAYACPRFLRIQEKMEATGTFKLLKHQLVEDGFNPLKISEPLYFMDNLKKS
  YVLLTRELYDQIMLGEIKL

• Sequence length: 619

Pathways

KEGG:

PPAR signaling pathway
Insulin resistance

Reactome:

Transport of fatty acids

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL RIGHT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30911270, 31575907		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30911270	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31575907		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12818409		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33078631	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21920065		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	24262292	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33989714	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11052962		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22351475		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26004606	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	26932421		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	12556534	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21920065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21920065		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	26893370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30911270, 31575907		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15978856, 21920065		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11052962, 24262292		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	26932421		★☆☆☆☆ Found in Text Mining only