FABP6 fatty acid binding protein 6, ileal [Homo sapiens (human)] - Gene

Summary

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Official Symbol: FABP6provided by HGNC
Official Full Name: fatty acid binding protein 6, ilealprovided by HGNC
Primary source: HGNC:3561
See related: Ensembl:ENSG00000170231; HPRD:02689; MIM:600422; Vega:OTTHUMG00000130329
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ILBP; I-15P; I-BAP; ILBP3; ILLBP; I-BABP; I-BALB
Summary: This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 5q33.3-q34

Sequence :: Chromosome: 5; NC_000005.9 (159614374..159665729)

See FABP6 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Ursodeoxycholic acid induces unique conformational changes in IBABP.
Title: Unusual binding of ursodeoxycholic acid to ileal bile acid binding protein: role in activation of FXRα.
NMR data are in agreement with a conformational selection model we proposed earlier for I-BABP and support the hypothesis of an allosteric mechanism of ligand binding
Title: Internal motions and exchange processes in human ileal bile acid binding protein as studied by backbone (15)N nuclear magnetic resonance spectroscopy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
The-putative functional-Thr79Met substitution of FABP6 confers a protective effect on type 2 diabetes in obese individuals.
Title: Evidence for the Thr79Met polymorphism of the ileal fatty acid binding protein (FABP6) to be associated with type 2 diabetes in obese individuals.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Evidence for the Thr79Met polymorphism of the ileal fatty acid binding protein (FABP6) to be associated with type 2 diabetes in obese individuals.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The expression of FABP6 was higher in primary colorectal cancers and adenomas than in normal epithelium, but was dramatically decreased in lymph node metastases, suggesting that FABP6 may play an important role in early carcinogenesis.
Title: Fatty acid binding protein 6 is overexpressed in colorectal cancer.
NMR structure of human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures
Title: Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures.
ASBT and ILBP protein were 48% and 67% lower in normal weight gallstone carriers than in controls (P < 0.05); similar differences were found for mRNA expression levels.
Title: Apical sodium bile acid transporter and ileal lipid binding protein in gallstone carriers.
the I-BABP gene may be a novel target for PPAR in humans
Title: The gene encoding the human ileal bile acid-binding protein (I-BABP) is regulated by peroxisome proliferator-activated receptors.

Submit: New GeneRIF Correction See all (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Pathways from BioSystems

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Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
PPAR signaling pathway, organism-specific biosystem (from KEGG)
PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
PPAR signaling pathway, conserved biosystem (from KEGG)
PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
Recycling of bile acids and salts, organism-specific biosystem (from REACTOME)
Recycling of bile acids and salts, organism-specific biosystemOf the 20-40 grams of bile salts released daily by the liver, all but approximately 0.5 grams are reabsorbed from the intestine, returned to the liver, and re-used. This recycling involves a series o...

General gene information

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Markers

D5S1761 (e-PCR)
- UniSTS:15142

D5S527 (e-PCR)
- UniSTS:148067

AFMA081ZD5 (e-PCR)
- UniSTS:78723

Genotypes

See FABP6 SNP Geneview Report
See FABP6 SNP Genotype Report
See FABP6 SNP Variation Viewer Report

Homology

Homologs of the FABP6 gene: The FABP6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
lipid binding	IEA Inferred from Electronic Annotation more info
transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
bile acid and bile salt transport	TAS Traceable Author Statement more info
bile acid metabolic process	TAS Traceable Author Statement more info
lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
negative regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info
cytoplasm	TAS Traceable Author Statement more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: gastrotropin

Names: gastrotropin; GT; intestinal 15 kDa protein; ileal lipid-binding protein; illeal lipid-binding protein; ileal bile acid binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029500.1 RefSeqGene

Range

5001..56356

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040442.1 → NP_001035532.1 gastrotropin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform 1).

Source sequence(s)

AI208231, BC022489, X90908

Consensus CDS

CCDS43393.1

UniProtKB/Swiss-Prot

P51161

Related

ENSP00000377551, ENST00000393982

Conserved Domains (1) summary

pfam00061
Location:57 – 175
Blast Score: 82

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
NM_001130958.1 → NP_001124430.1 gastrotropin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an additional 5' exon, as compared to variant 1. Both variants 1 and 3 encode the same isoform 1.

Source sequence(s)

BC022489, DQ132786

Consensus CDS

CCDS43393.1

UniProtKB/Swiss-Prot

P51161

Related

ENSP00000377549, OTTHUMP00000160846, ENST00000393980, OTTHUMT00000252678

Conserved Domains (1) summary

pfam00061
Location:57 – 175
Blast Score: 82

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
NM_001445.2 → NP_001436.1 gastrotropin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two 5' exons and has an alternate 5' sequence, and the translation initiation starts from a downstream AUG codon, as compared to variant 1. The encoded protein (isoform 2) is dominant and shorter at the N-terminus, as compared to isoform 1.

Source sequence(s)

BC022489, X90908

Consensus CDS

CCDS4349.1

UniProtKB/Swiss-Prot

P51161

Related

ENSP00000385433, OTTHUMP00000198697, ENST00000402432, OTTHUMT00000320505

Conserved Domains (1) summary

pfam00061
Location:8 – 126
Blast Score: 80

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p10 Primary Assembly

Range

159614374..159665729

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

154708386..154759676

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018916.1 Alternate CHM1_1.0

Range

159842199..159893552

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01044222.1 (18569..33457)	None
genomic	ABBA01044223.1	None
genomic	ABBA01044224.1	None
genomic	AC008609.7	None
genomic	AC112191.2 (131185..140471)	None
genomic	AJ250902.1	CAB65728.1
genomic	AJ276802.1	CAC81780.1
genomic	AMYH01015759.1 (154427..205780)	None
genomic	CH471062.2	EAW61563.1
		EAW61564.1
		EAW61565.1
		EAW61566.1
mRNA	AI208231.1	None
mRNA	BC022489.1	AAH22489.1
mRNA	DQ132786.1	ABA12611.1
mRNA	U19869.1	AAB82751.1
mRNA	X90908.1	CAA62415.1
other-genetic	HQ448339.1	ADQ32819.1