Format

Send to:

Choose Destination

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

Gene ID: 11000, updated on 18-Aug-2020

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
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

Genomic context

See SLC27A3 in Genome Data Viewer
Location:
1q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (153775407..153780157)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153746830..153752633)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gem nuclear organelle associated protein 2 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 372, pseudogene Neighboring gene integrator complex subunit 3 Neighboring gene immunoglobulin superfamily DCC subclass member 3 pseudogene Neighboring gene GATA zinc finger domain containing 2B Neighboring gene adipose differentiation-related protein pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4365

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
arachidonate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
very long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
solute carrier family 27 member 3
Names
arachidonate--CoA ligase
long-chain fatty acid transport protein 3
solute carrier family 27 (fatty acid transporter), member 3
very long-chain acyl-CoA synthetase homolog 3
NP_001304858.3
NP_077306.3

NCBI Reference Sequences (RefSeq)

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

  1. NG_053029.1 RefSeqGene

    Range
    5116..9866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317929.4NP_001304858.3  solute carrier family 27 member 3 isoform 2 precursor

    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:163638
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. NM_024330.4NP_077306.3  solute carrier family 27 member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC003041
    Consensus CDS
    CCDS1053.2
    Related
    ENSP00000485061.2, ENST00000624995.4
    Conserved Domains (1) summary
    cd05938
    Location:163673
    hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    153775407..153780157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315905.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    92108..96858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center