SLC27A3 - solute carrier family 27 member 3 Gene

Also Known as FATP3; ACSVL3; VLCS-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11000

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 References 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 References 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 References 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: AMP-binding enzyme (211 - 597)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (606 - 682)

  • 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

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 Set / 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
Others SLC27A3 NCBI