SLC27A3 solute carrier family 27 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC27A3provided by HGNC
Official Full Name: solute carrier family 27 member 3provided by HGNC
Primary source: HGNC:HGNC:10997
See related: Ensembl:ENSG00000143554 MIM:604193; AllianceGenome:HGNC:10997
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: FATP3; ACSVL3; VLCS-3
Summary: This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression: Ubiquitous expression in lung (RPKM 12.3), fat (RPKM 11.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153775407..153780157)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152912661..152917411)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153747883..153752633)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD) patient and 1140 control samples and detected 47 and 30 variants for the SLC27A3 and SLC27A4, revealing that they are highly polymorphic with multiple rare variants.
Title: Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.
Our findings indicate that the lipid metabolism enzyme ACSVL3 is involved in GBM stem cell maintenance and the tumor-initiating capacity of GBM stem cell enriched-neurospheres in animals
Title: Lipid metabolism enzyme ACSVL3 supports glioblastoma stem cell maintenance and tumorigenicity.
all of 69 different lung tumors tested, including adeno-, squamous cell, large cell, and small cell carcinomas, had robustly elevated ACSVL3 levels.
Title: Very long-chain acyl-CoA synthetase 3: overexpression and growth dependence in lung cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variability of the fatty acid synthase pathway is not associated with prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).
ACSVL3 maintains oncogenic properties of malignant glioma cells via a mechanism that involves, in part, the regulation of Akt function.
Title: Acyl-CoA synthetase VL3 knockdown inhibits human glioma cell proliferation and tumorigenicity.

Submit: New GeneRIF Correction

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

A005A27 (e-PCR)
- UniSTS:27167

D1S1775E (e-PCR)
- UniSTS:150561

RH94084 (e-PCR)
- UniSTS:85030

RH80662 (e-PCR)
- UniSTS:84030

RH36580 (e-PCR)
- UniSTS:3417

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables arachidonate-CoA ligase activity	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
enables very long-chain fatty acid-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in long-chain fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: long-chain fatty acid transport protein 3

Names: arachidonate--CoA ligase; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 3; very long-chain acyl-CoA synthetase homolog 3

NP_001304858.3

EC 6.2.1.15

EC 6.2.1.3

NP_077306.3

EC 6.2.1.15

EC 6.2.1.3

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_053029.1 RefSeqGene

Range

5116..9866

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001317929.4 → NP_001304858.3 long-chain fatty acid transport protein 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BC003041, BC003654

Conserved Domains (1) summary

cl17068
Location:163 → 638

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_024330.4 → NP_077306.3 long-chain fatty acid transport protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

BC003041

Consensus CDS

CCDS1053.3

UniProtKB/Swiss-Prot

Q5K4L6, Q5VUQ7, Q5VUQ8, Q5VUR3, Q6ZV16, Q8N2X7, Q8TEJ0, Q96SW5, Q9BTJ5, Q9BTY5

UniProtKB/TrEMBL

X6R3N0

Related

ENSP00000485061.2, ENST00000624995.4

Conserved Domains (1) summary

cd05938
Location:163 → 673

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

RNA

NR_145826.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC003041