SLC27A5 (solute carrier family 27 member 5)

2014-11-01  

Identity

HGNC
LOCATION
19q13.43
LOCUSID
ALIAS
ACSB,ACSVL6,BACS,BAL,FACVL3,FATP-5,FATP5,VLACSR,VLCS-H2,VLCSH2
FUSION GENES

Other Information

Locus ID:

NCBI: 10998
MIM: 603314
HGNC: 10999
Ensembl: ENSG00000083807

Variants:

dbSNP: 10998
ClinVar: 10998
TCGA: ENSG00000083807
COSMIC: SLC27A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083807ENST00000263093Q9Y2P5
ENSG00000083807ENST00000594786M0R075
ENSG00000083807ENST00000595851M0R075
ENSG00000083807ENST00000601355Q9Y2P5

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
PPAR signaling pathwayKEGGko03320
Primary bile acid biosynthesisKEGGhsa00120
PPAR signaling pathwayKEGGhsa03320
Metabolic pathwaysKEGGhsa01100
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGhsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGM00104
Conjugated bile acid biosynthesis, cholate => taurocholate/glycocholateKEGGM00106
Conjugated bile acid biosynthesis, cholate => taurocholate/glycocholateKEGGhsa_M00106
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Recycling of bile acids and saltsREACTOMER-HSA-159418
Insulin resistanceKEGGhsa04931

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
209452722010A promoter polymorphism in the liver-specific fatty acid transport protein 5 is associated with features of the metabolic syndrome and steatosis.17
209452722010A promoter polymorphism in the liver-specific fatty acid transport protein 5 is associated with features of the metabolic syndrome and steatosis.17
234158022013Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.16
220899232012Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.11
172661792007Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - role of fat assimilation.8

Citation

Dessen P

SLC27A5 (solute carrier family 27 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73380/slc27a5