1. Gene
  2. SLC27A3 - solute carrier family 27 member 3 Gene

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

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
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  • 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

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