InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RBP4

Summary

InnateDB Protein

IDBP-82810.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RBP4

Protein Name

retinol binding protein 4, plasma

Synonyms

RDCCAS;

Species

Homo sapiens

Ensembl Protein

ENSP00000360522

InnateDB Gene

IDBG-82806 (RBP4)

Protein Structure

UniProt Annotation

Function

Delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin, this prevents its loss by filtration through the kidney glomeruli.

Subcellular Localization

Secreted.

Disease Associations

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]: A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne. {ECO:0000269PubMed:23189188, ECO:0000269PubMed:9888420}. Note=The disease is caused by mutations affecting the gene represented in this entry. Loss of functional RBP4 protein results in serum retinol deficiency. Lack of normal levels of retinol impairs the visual cycle leading to night blindness at early stages; prolonged deficiency may lead to retinal degeneration. Additionally, retinol deficiency may result in dry skin, increased susceptibility to infection and acne (PubMed:23189188). {ECO:0000269PubMed:23189188}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0016918	retinal binding
GO:0019841	retinol binding
GO:0034632	retinol transporter activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0001654	eye development
GO:0006094	gluconeogenesis
GO:0007283	spermatogenesis
GO:0007507	heart development
GO:0007603	phototransduction, visible light
GO:0008584	male gonad development
GO:0030277	maintenance of gastrointestinal epithelium
GO:0030324	lung development
GO:0032024	positive regulation of insulin secretion
GO:0032526	response to retinoic acid
GO:0032868	response to insulin
GO:0034633	retinol transport
GO:0042572	retinol metabolic process
GO:0042574	retinal metabolic process
GO:0042593	glucose homeostasis
GO:0045471	response to ethanol
GO:0048562	embryonic organ morphogenesis
GO:0048706	embryonic skeletal system development
GO:0048738	cardiac muscle tissue development
GO:0048807	female genitalia morphogenesis
GO:0050908	detection of light stimulus involved in visual perception
GO:0051024	positive regulation of immunoglobulin secretion
GO:0060041	retina development in camera-type eye
GO:0060044	negative regulation of cardiac muscle cell proliferation
GO:0060059	embryonic retina morphogenesis in camera-type eye
GO:0060065	uterus development
GO:0060068	vagina development
GO:0060157	urinary bladder development
GO:0060347	heart trabecula formation

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005829	cytosol
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000566 Lipocalin/cytosolic fatty-acid binding domain
IPR002345 Lipocalin
IPR002449 Retinol binding protein/Purpurin
IPR011038 Calycin-like
IPR022271 Lipocalin, ApoD type

PFAM

PF00061
PF08212

PRINTS

PR00179
PR01174

PIRSF

PIRSF500204
PIRSF036893

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt