SLC27A5 solute carrier family 27 member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC27A5provided by HGNC
Official Full Name: solute carrier family 27 member 5provided by HGNC
Primary source: HGNC:HGNC:10999
See related: Ensembl:ENSG00000083807 MIM:603314; AllianceGenome:HGNC:10999
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAL; ACSB; BACS; FATP5; ACSVL6; FACVL3; FATP-5; VLACSR; VLCSH2; VLCS-H2
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 with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 126.6) and testis (RPKM 2.0) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.43

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (58498333..58511992, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (61594402..61607985, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (59009700..59023359, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Metabolic Enzyme SLC27A5 Regulates PIP4K2A pre-mRNA Splicing as a Noncanonical Mechanism to Suppress Hepatocellular Carcinoma Metastasis.
Title: Metabolic Enzyme SLC27A5 Regulates PIP4K2A pre-mRNA Splicing as a Noncanonical Mechanism to Suppress Hepatocellular Carcinoma Metastasis.
Copper metabolism-related risk score identifies hepatocellular carcinoma subtypes and SLC27A5 as a potential regulator of cuproptosis.
Title: Copper metabolism-related risk score identifies hepatocellular carcinoma subtypes and SLC27A5 as a potential regulator of cuproptosis.
Loss of SLC27A5 Activates Hepatic Stellate Cells and Promotes Liver Fibrosis via Unconjugated Cholic Acid.
Title: Loss of SLC27A5 Activates Hepatic Stellate Cells and Promotes Liver Fibrosis via Unconjugated Cholic Acid.
SLC27A5 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by downregulating glutathione reductase.
Title: SLC27A5 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by downregulating glutathione reductase.
SLC27A5 deficiency activates NRF2/TXNRD1 pathway by increased lipid peroxidation in HCC.
Title: SLC27A5 deficiency activates NRF2/TXNRD1 pathway by increased lipid peroxidation in HCC.
Hepatic FATP5 expression is associated with histological progression and loss of hepatic fat in NAFLD patients.
Title: Hepatic FATP5 expression is associated with histological progression and loss of hepatic fat in NAFLD patients.
Based on a study of 10 pediatric patients, genetic defects that disrupt bile acid amidation cause fat-soluble vitamin deficiency and growth failure, indicating the importance of bile acid conjugation in lipid absorption.
Title: Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Bile acid-CoA ligase deficiency is a new inborn error of bile acid metabolism [case report]
Title: Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
A promoter polymorphism in the FATP5 is associated with the metabolic syndrome and steatosis.
Title: A promoter polymorphism in the liver-specific fatty acid transport protein 5 is associated with features of the metabolic syndrome and steatosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: A promoter polymorphism in the liver-specific fatty acid transport protein 5 is associated with features of the metabolic syndrome and steatosis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

SHGC-33055 (e-PCR)
- UniSTS:81437

D11S2560 (e-PCR)
- UniSTS:37928

A006E09 (e-PCR)
- UniSTS:3632

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

SHGC-57775 (e-PCR)
- UniSTS:76900

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D2S1254 (e-PCR)
- UniSTS:24950

G35510 (e-PCR)
- UniSTS:44150

RH36905 (e-PCR)
- UniSTS:87932

G32329 (e-PCR)
- UniSTS:116922

L17971 (e-PCR)
- UniSTS:43966

GDB:631802 (e-PCR)
- UniSTS:158429

A005O38 (e-PCR)
- UniSTS:38124

RH17933 (e-PCR)
- UniSTS:26606

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cholate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acid-CoA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acid-CoA ligase activity	TAS Traceable Author Statement more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables very long-chain fatty acid-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	TAS Traceable Author Statement more info
involved_in bile acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in bile acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in ketone body biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid import into cell	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride mobilization	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basal plasma membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: long-chain fatty acid transport protein 5

Names: BA-CoA ligase; VLACS-related; bile acid-CoA ligase; bile acyl-CoA synthetase; cholate--CoA ligase; fatty acid transport protein 5; fatty-acid-Coenzyme A ligase, very long-chain 3; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 5; very long-chain acyl-CoA synthetase homolog 2; very long-chain acyl-CoA synthetase-related protein

NP_001308125.1

EC 6.2.1.3

EC 6.2.1.7

NP_036386.1

EC 6.2.1.3

EC 6.2.1.7

XP_011524666.1

EC 6.2.1.3

EC 6.2.1.7

XP_016881703.1

EC 6.2.1.3

EC 6.2.1.7

XP_054175600.1

EC 6.2.1.3

EC 6.2.1.7

XP_054175601.1

EC 6.2.1.3

EC 6.2.1.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047124.1 RefSeqGene

Range

5074..18733

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001321196.2 → NP_001308125.1 long-chain fatty acid transport protein 5 isoform 2

Status: REVIEWED

Source sequence(s)

AF064255, AK298446, BU688212

Consensus CDS

CCDS82415.1

UniProtKB/Swiss-Prot

Q9Y2P5

Related

ENSP00000470368.1, ENST00000601355.1

Conserved Domains (1) summary

cl17068
Location:146 → 596

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_012254.3 → NP_036386.1 long-chain fatty acid transport protein 5 isoform 1

See identical proteins and their annotated locations for NP_036386.1

Status: REVIEWED

Source sequence(s)

AK123036, BX103174

Consensus CDS

CCDS12983.1

UniProtKB/Swiss-Prot

B3KVP6, B4DPQ1, Q9Y2P5

Related

ENSP00000263093.2, ENST00000263093.7

Conserved Domains (2) summary

cd05938
Location:140 → 680

hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins

PRK08279
Location:87 → 690

PRK08279; long-chain-acyl-CoA synthetase; Validated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

58498333..58511992 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526364.3 → XP_011524666.1 long-chain fatty acid transport protein 5 isoform X1

Conserved Domains (2) summary

pfam00501
Location:120 → 558

AMP-binding; AMP-binding enzyme

cl17068
Location:140 → 592

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_017026214.3 → XP_016881703.1 long-chain fatty acid transport protein 5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

61594402..61607985 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319625.1 → XP_054175600.1 long-chain fatty acid transport protein 5 isoform X1
XM_054319626.1 → XP_054175601.1 long-chain fatty acid transport protein 5 isoform X2