SLC27A3 - solute carrier family 27 member 3 Gene

Homo sapiens

Also known as FATP3; ACSVL3; VLCS-3

Gene ID: 11000 | Gene type: protein coding

About SLC27A3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,775,407-153,780,157 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 202 orthologues and 12 paralogues. Ubiquitous expression in lung (RPKM 12.3), fat (RPKM 11.5) and 25 other tissues.

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]

SLC27A3 Products(2)

mRNA	Protein	Name
NM_001317929.4	NP_001304858.3	long-chain fatty acid transport protein 3 isoform 2 precursor
NM_024330.4	NP_077306.3	long-chain fatty acid transport protein 3 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables long-chain fatty acid-CoA ligase activity	IDA IDA: Inferred from direct assay	23936004	GOA
enables very long-chain fatty acid-CoA ligase activity	IDA IDA: Inferred from direct assay	23936004	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid transport	IMP IMP: Inferred from mutant phenotype	32521232	GOA
involved in long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	23936004	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	23936004	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC27A3 Protein Structure

AMP-binding

AMP-binding_C

0
200
400
600
730 a.a.

Protein Preferred Names

Protein Names

long-chain fatty acid transport protein 3

arachidonate--CoA ligase

Related Diseases

Diseases

Alias

Gand Syndrome

Mrd18	GAND
Mental Retardation, Autosomal Dominant 18	Autosomal Dominant Non-Syndromic Intellectual Disability 18
Autosomal Dominant Intellectual Developmental Disorder 18	Autosomal Dominant Mental Retardation 18

Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13146	SLC27A3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC27A3	RGD	RGD:1310605
Canis familiaris	SLC27A3	VGNC	VGNC:46331
Felis catus	SLC27A3	VGNC	VGNC:65290
Mus musculus	SLC27A3	MGD	MGI:1347358
Bos taurus	SLC27A3	VGNC	VGNC:34787
Macaca mulatta	SLC27A3	VGNC	VGNC:77440

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