1. Gene
  2. SLC27A4 - solute carrier family 27 member 4 Gene

SLC27A4 - solute carrier family 27 member 4 Gene

Homo sapiens

Also known as IPS; FATP4; ACSVL4

Gene ID: 10999 | Gene type: protein coding

About SLC27A4

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,340,527-128,361,470 (from NCBI)

This gene has 2 transcripts (splice variants), 248 orthologues, 12 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 32.2), small intestine (RPKM 21.2) and 24 other tissues.

Summary

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the Insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]

SLC27A4 Products(1)

mRNA Protein Name
NM_005094.4 NP_005085.2 long-chain fatty acid transport protein 4
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables long-chain fatty acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
21395585 GOA
enables long-chain fatty acid-CoA ligase activity IDA
IDA: Inferred from direct assay
22022213 GOA
enables oleoyl-CoA ligase activity IDA
IDA: Inferred from direct assay
25603556 GOA
enables palmitoyl-CoA ligase activity IDA
IDA: Inferred from direct assay
25603556 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within activation of GTPase activity IDA
IDA: Inferred from direct assay
25603556 GOA
acts upstream of or within fatty acid metabolic process IDA
IDA: Inferred from direct assay
25603556 GOA
involved in fatty acid transport IMP
IMP: Inferred from mutant phenotype
32521232 GOA
involved in lipid transport across blood-brain barrier IMP
IMP: Inferred from mutant phenotype
21395585 GOA
involved in long-chain fatty acid import into cell IDA
IDA: Inferred from direct assay
22022213 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: Inferred from direct assay
22022213 GOA
involved in long-chain fatty acid transport IMP
IMP: Inferred from mutant phenotype
21395585 GOA
involved in negative regulation of insulin receptor signaling pathway IDA
IDA: Inferred from direct assay
25603556 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
25603556 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
32521232 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
22022213 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

SLC27A4 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (80 - 511)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (520 - 595)

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  • 643 a.a.
Protein Preferred Names Protein Names

long-chain fatty acid transport protein 4

arachidonate--CoA ligase

Recombinant SLC27A4 Proteins

Cat. No. Product Name Accession Purity
HY-P77206 SLC27A4/FATP4 Protein, Human (HEK293, His) Q6P1M0-1 (Q483-L643) ≥95%

Related Diseases

Diseases Alias
Ichthyosis Prematurity Syndrome

IPS

Ichthyosis Congenita Iv

Ichthyosis-Prematurity Syndrome

Congenital Ichthyosis Type 4

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome

Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Dermopathy, Restrictive, Lethal

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome

ODRMD

Optic Disk Anomalies With Retinal And/Or Macular Dystrophy

Ichthyosis, Congenital, Autosomal Recessive 1

Collodion Fetus

Autosomal Recessive Congenital Ichthyosis 1

ARCI1

Ichthyosis Congenita

Lamellar Exfoliation Of Newborn

Desquamation Of Newborn

Ichthyosis Congenita Ii

Shcb

Icr2

Bathing Suit Ichthyosis

Li1

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution

Collodion Baby, Self-Healing

Ichthyosis, Lamellar, 1, Formerly

Li1, Formerly

Ichthyosis Lamellar 1

Lamellar Ichthyosis, Type 1

Bsi

Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution

Autosomal Recessive Congenital Ichthyosis Tgm1-Related

Lamellar Ichthyosis 1

Non-Erythrodermic Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive, Type 1

Congenital Ichthyosis

Persistent Fetal Circulation Syndrome

Persistent Fetal Circulation

Fetal Circulation

Persistent Pulmonary Hypertension Of The Newborn

Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins

Persistent Foetal Circulation

Persistent Foetal Circulation Syndrome

Pfc - [Persistent Fetal Circulation] Syndrome

Pphn - [Persistent Pulmonary Hypertension Of The Newborn]

Newborn Pulmonary Hypertension

Primary Pulmonary Hypertension Of Newborn

Platelet Glycoprotein Iv Deficiency

Platelet-Type Bleeding Disorder 10

Bdplt10

Cd36 Deficiency

Bleeding Disorder, Platelet-Type, 10

PG4D

Bleeding Disorder Platelet-Type 10

Deficiency, Platelet Glycoprotein Iv

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis

Autosomal Recessive Congenital Ichthyosis 4b

Hi

Harlequin Fetus

ARCI4B

Ichthyosis Congenita, Harlequin Fetus Type

Harlequin Type Ichthyosis

'Harlequin Fetus'

Harlequin Type Ichthyosis Congenita

Harlequin Type Ichthyosis Fetalis

Harlequin Baby Syndrome

Ichthyosis Congenita, Harlequin Type

Ichthyosis Fetalis, Harlequin Type

Ichthyosis Congenita Harlequin Fetus Type

Ichthyosis, Harlequin

Ichthyosis, Congenital, Autosomal Recessive, Type 4b

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
Mus musculus SLC27A4 MGD MGI:1347347
Felis catus SLC27A4 VGNC VGNC:65291
Canis familiaris SLC27A4 VGNC VGNC:46332
Rattus norvegicus SLC27A4 RGD RGD:1307383
Bos taurus SLC27A4 VGNC VGNC:34788
Macaca mulatta SLC27A4 VGNC VGNC:77441
Others SLC27A4 NCBI