Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10998
Gene name	Solute carrier family 27 member 5
Gene symbol	SLC27A5
Synonyms (NCBI Gene)	ACSBACSVL6BACSBALFACVL3FATP-5FATP5VLACSRVLCS-H2VLCSH2
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

Show/Hide all (45)

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

MIM	HGNC	e!Ensembl
603314	10999	ENSG00000083807

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

Interactions

View interactions

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

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs200252519	RCV005928507
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs751110550	RCV004560058
Familial cancer of breast	Conflicting classifications of pathogenicity	rs200252519	RCV005928505
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs200252519, rs201981392	RCV005928510 RCV005898721
Hepatocellular carcinoma	Benign	rs144295671	RCV005895876
Lung cancer	Conflicting classifications of pathogenicity	rs200252519	RCV005928512
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs200252519	RCV005928506
Myoepithelial tumor	Uncertain significance	rs2514228084	RCV002463948
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs200252519	RCV005928511
Sarcoma	Conflicting classifications of pathogenicity	rs200252519	RCV005928509
SLC27A5-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs4801274, rs143207513, rs113904799, rs567812094, rs200114980, rs141574728, rs147464959, rs35350976, rs34415062, rs148459550, rs559467414, rs137880349, rs150780205, rs764993873, rs149709084 View all (52 more)	RCV003976094 RCV004751327 RCV003927586 RCV004750763 RCV003909913 RCV004751426 RCV003940009 RCV003977781 RCV003982990 RCV003967758 RCV003967777 RCV003949915 RCV003910014 RCV004751441 RCV003977807 RCV003977808 RCV003967792 RCV003977810 RCV003409421 RCV003399745 RCV003417067 RCV003408661 RCV003410734 RCV003414194 RCV003414237 RCV003946659 RCV003966580 RCV003896507 RCV003896734 RCV003896755 RCV003896968 RCV003921669 RCV003921772 RCV003982641 RCV003906979 RCV003904496 RCV003901543 RCV003901585 RCV003902061 RCV003911744 RCV003899412 RCV003909359 RCV003969871 RCV003971977 RCV003949404 RCV003958901 RCV003942137 RCV003954667 RCV003982208 RCV003983647 RCV003959865 RCV004750964 RCV003952948 RCV004751611 RCV003952961 RCV003952964 RCV003409865 RCV003915731 RCV004751623 RCV003962731 RCV003420286 RCV004751684 RCV003420302 RCV003392571 RCV004751687 RCV003411681 RCV003908056 RCV004751691
Uveal melanoma	Conflicting classifications of pathogenicity	rs200252519	RCV005928508

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenoleukodystrophy	Associate	30544401
Carcinoma Hepatocellular	Associate	34664394, 34861383, 36635256, 38157255
Carcinoma Hepatocellular	Inhibit	38059827
Cholestasis Intrahepatic	Associate	22783059
Neoplasm Metastasis	Associate	38059827
Neoplastic Cells Circulating	Associate	34664394
Non alcoholic Fatty Liver Disease	Associate	27301979
Pulmonary Disease Chronic Obstructive	Stimulate	40655182

SLC27A5 (solute carrier family 27 member 5)