SLC27A5 (solute carrier family 27 member 5)

Gene

• Entrez ID: 10998
• Gene name: Solute carrier family 27 member 5
• Gene symbol: SLC27A5
• Synonyms (NCBI Gene): ACSB, ACSVL6, BACS, BAL, FACVL3, FATP-5, FATP5, VLACSR, VLCS-H2, VLCSH2
• Chromosome: 19
• Chromosome location: 19q13.43
• Summary: The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	10479480
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
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IBA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IDA	20530735
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	10479480
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11980911
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006642	Process	Triglyceride mobilization	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	11980911
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008206	Process	Bile acid metabolic process	IBA
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015245	Function	Fatty acid transmembrane transporter activity	IEA
GO:0015721	Process	Bile acid and bile salt transport	TAS
GO:0015908	Process	Fatty acid transport	IEA
GO:0015909	Process	Long-chain fatty acid transport	IEA
GO:0015911	Process	Long-chain fatty acid import across plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IDA	10479480, 11980911
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0044539	Process	Long-chain fatty acid import into cell	IBA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046951	Process	Ketone body biosynthetic process	IEA
GO:0047747	Function	Cholate-CoA ligase activity	IDA	10749848
GO:0047747	Function	Cholate-CoA ligase activity	IEA
GO:0051649	Process	Establishment of localization in cell	IEA

Other IDs

• MIM: 603314
• HGNC: 10999
• e!Ensembl: ENSG00000083807

Protein

• UniProt ID: Q9Y2P5
• Protein name: Long-chain fatty acid transport protein 5 (FATP-5) (Fatty acid transport protein 5) (Bile acid-CoA ligase) (BA-CoA ligase) (BAL) (Bile acyl-CoA synthetase) (BACS) (EC 6.2.1.7) (Cholate--CoA ligase) (Fatty-acid-coenzyme A ligase, very long-chain 3) (Long-c
• Protein function: May mediate the import of long-chain fatty acids (LCFA) by facilitating their transport across cell membranes (PubMed:20448275, PubMed:20530735). Also catalyzes the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00501	AMP-binding	120 → 558	AMP-binding enzyme	Family
  PF13193	AMP-binding_C	566 → 642	AMP-binding enzyme C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in liver. {ECO:0000269|PubMed:10479480}.
• Sequence:

  MGVRQQLALLLLLLLLLWGLGQPVWPVAVALTLRWLLGDPTCCVLLGLAMLARPWLGPWV
  PHGLSLAAAALALTLLPARLPPGLRWLPADVIFLAKILHLGLKIRGCLSRQPPDTFVDAF
  ERRARAQPGRALLVWTGPGAGSVTFGELDARACQAAWALKAELGDPASLCAGEPTALLVL
  ASQAVPALCMWLGLAKLGCPTAWINPHGRGMPLAHSVLSSGARVLVVDPDLRESLEEILP
  KLQAENIRCFYLSHTSPTPGVGALGAALDAAPSHPVPADLRAGITWRSPALFIYTSGTTG
  LPKPAILTHERVLQMSKMLSLSGATADDVVYTVLPLYHVMGLVVGILGCLDLGATCVLAP
  KFSTSCFWDDCRQHGVTVILYVGELLRYLCNIPQQPEDRTHTVRLAMGNGLRADVWETFQ
  QRFGPIRIWEVYGSTEGNMGLVNYVGRCGALGKMSCLLRMLSPFELVQFDMEAAEPVRDN
  QGFCIPVGLGEPGLLLTKVVSQQPFVGYRGPRELSERKLVRNVRQSGDVYYNTGDVLAMD
  REGFLYFRDRLGDTFRWKGENVSTHEVEGVLSQVDFLQQVNVYGVCVPGCEGKVGMAAVQ
  LAPGQTFDGEKLYQHVRAWLPAYATPHFIRIQDAMEVTSTFKLMKTRLVREGFNVGIVVD
  PLFVLDNRAQSFRPLTAEMYQAVCEGTWRL

• Sequence length: 690

Pathways

KEGG:

Primary bile acid biosynthesis
Metabolic pathways
PPAR signaling pathway
Insulin resistance
Bile secretion

Reactome:

Recycling of bile acids and salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol

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
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC27A5-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	22898323		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22898323		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30544401		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	30544401	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22898323		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12952249, 20003105, 23647087, 28300572, 28933920, 30290132, 30352167, 30576223, 30861490, 31019244, 31161938, 31532863, 7742019		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11110709		★☆☆☆☆ Found in Text Mining only
Bile acid CoA ligase deficiency and defective amidation	Bile Acid CoA Ligase Deficiency And Defective Amidation	ORPHANET_DG	22089923		★☆☆☆☆ Found in Text Mining only
Bile acid CoA ligase deficiency and defective amidation	Bile Acid CoA Ligase Deficiency And Defective Amidation	Orphanet			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	30281324		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34664394, 34861383, 36635256, 38157255	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38059827	Inhibit	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22898323		★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	22783059	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17505034, 21818276, 29750543, 30641028		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	31602526		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20456672, 29232160, 29327941, 30032860, 30281324		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	30141971		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	20945272		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29063135		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	29493871, 30107039, 31019244		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	20945272		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31602526		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	10211889		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	1954982		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12100034, 21649933, 27769060, 28057004, 30141961, 30789747, 31051082, 31098385, 31106564, 31678459		★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	11948049		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	28910519		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22898323		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30429396		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23387413, 31367013		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31602526		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	24074287		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	23387413		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23387413		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	10378572, 22738791, 31577091		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28202030, 30168753, 31577091, 31678459, 8769489		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	31669429		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29477363		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	21757570		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11035700		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20945272		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	21757570		★☆☆☆☆ Found in Text Mining only
Neuroendocrine cell hyperplasia of infancy	Neuroendocrine Cell Hyperplasia	BEFREE	31409098		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30429396		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	24874501, 29672122		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18524776, 20945272, 27301979, 31602526		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29643358		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28957638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	10211889		★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	BEFREE	30612125, 31253537		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	24068019		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29643358		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	10779401, 15182285, 31002528, 31229291		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40655182	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	29206477, 31253537		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20966039, 27769060, 30240278, 30982371, 31678459		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30990758		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	17052298, 28057004, 28846439, 29242257, 30141971, 30612125, 31678459, 8120402, 8769489, 8893383, 9572000		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	2710120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	29643358		★☆☆☆☆ Found in Text Mining only
Simple Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	12684329, 30612125, 31253537		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27714034		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20945272		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11407697, 7735620		★☆☆☆☆ Found in Text Mining only