Human Gene RBP4 (ENST00000371464.8_7) from GENCODE V47lift37
  Description: retinol binding protein 4, transcript variant 1 (from RefSeq NM_006744.4)
Gencode Transcript: ENST00000371464.8_7
Gencode Gene: ENSG00000138207.15_11
Transcript (Including UTRs)
   Position: hg19 chr10:95,351,451-95,360,992 Size: 9,542 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr10:95,351,832-95,360,785 Size: 8,954 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:95,351,451-95,360,992)mRNA (may differ from genome)Protein (201 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RET4_HUMAN
DESCRIPTION: RecName: Full=Retinol-binding protein 4; AltName: Full=Plasma retinol-binding protein; Short=PRBP; Short=RBP; Contains: RecName: Full=Plasma retinol-binding protein(1-182); Contains: RecName: Full=Plasma retinol-binding protein(1-181); Contains: RecName: Full=Plasma retinol-binding protein(1-179); Contains: RecName: Full=Plasma retinol-binding protein(1-176); Flags: Precursor;
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 LOCATION: Secreted.
MASS SPECTROMETRY: Mass=21063.46; Mass_error=1.88; Method=Electrospray; Range=17-199; Source=PubMed:7666002;
MASS SPECTROMETRY: Mass=20534; Method=MALDI; Range=19-197; Source=PubMed:12237133;
MASS SPECTROMETRY: Mass=20162; Method=MALDI; Range=19-194; Source=PubMed:12237133;
DISEASE: Defects in RBP4 are a cause of retinol-binding protein deficiency (RBP deficiency) [MIM:180250]. This condition causes night vision problems. It produces a typical 'fundus xerophthalmicus', featuring a progressed atrophy of the retinal pigment epithelium.
SIMILARITY: Belongs to the calycin superfamily. Lipocalin family.
SEQUENCE CAUTION: Sequence=AAF69622.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Mutations of the RBP4 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rlbp4mut.htm";
WEB RESOURCE: Name=Wikipedia; Note=Retinol-binding protein 4 entry; URL="http://en.wikipedia.org/wiki/Retinol_binding_protein_4";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RBP4
Diseases sorted by gene-association score: retinal dystrophy, iris coloboma, and comedogenic acne syndrome* (1681), microphthalmia, isolated, with coloboma 10* (1330), colobomatous microphthalmia* (143), lipid metabolism disorder (31), keratomalacia (25), hypervitaminosis a (23), bronchopulmonary dysplasia (9), gestational diabetes (8), acne (8), coloboma (7), polyneuropathy (7), split foot (6), glucose intolerance (6), split hand-split foot malformation (5), ariboflavinosis (5), intracranial hypertension, idiopathic (5), kidney disease (5), diabetes mellitus, noninsulin-dependent (3), obesity (2), diabetes mellitus, insulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2679.13 RPKM in Liver
Total median expression: 3700.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.1083-0.375 Picture PostScript Text
3' UTR -89.20381-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012674 - Calycin
IPR011038 - Calycin-like
IPR002345 - Lipocalin
IPR022271 - Lipocalin_ApoD
IPR022272 - Lipocalin_CS
IPR000566 - Lipocln_cytosolic_FA-bd_dom
IPR002449 - Retinol-bd

Pfam Domains:
PF00061 - Lipocalin / cytosolic fatty-acid binding protein family
PF08212 - Lipocalin-like domain

SCOP Domains:
50814 - Lipocalins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BRP - X-ray MuPIT 1BRQ - X-ray MuPIT 1JYD - X-ray MuPIT 1JYJ - X-ray MuPIT 1QAB - X-ray 1RBP - X-ray MuPIT 1RLB - X-ray 2WQ9 - X-ray MuPIT 2WQA - X-ray MuPIT 2WR6 - X-ray MuPIT 3BSZ - X-ray MuPIT 3FMZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02753
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005501 retinoid binding
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:0007507 heart development
GO:0007601 visual perception
GO:0030277 maintenance of gastrointestinal epithelium
GO:0030324 lung development
GO:0032024 positive regulation of insulin secretion
GO:0032526 response to retinoic acid
GO:0034633 retinol transport
GO:0042572 retinol 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:0050896 response to stimulus
GO:0051024 positive regulation of immunoglobulin secretion
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:0032991 macromolecular complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF211316 - JP 2014500723-A/18819: Polycomb-Associated Non-Coding RNAs.
X00129 - Human mRNA for retinol binding protein (RBP).
BC020633 - Homo sapiens retinol binding protein 4, plasma, mRNA (cDNA clone MGC:22269 IMAGE:4767481), complete cds.
JD526418 - Sequence 507442 from Patent EP1572962.
JD048268 - Sequence 29292 from Patent EP1572962.
JD083462 - Sequence 64486 from Patent EP1572962.
JD126836 - Sequence 107860 from Patent EP1572962.
JD418407 - Sequence 399431 from Patent EP1572962.
JD193077 - Sequence 174101 from Patent EP1572962.
JD508988 - Sequence 490012 from Patent EP1572962.
DQ891381 - Synthetic construct clone IMAGE:100004011; FLH176380.01X; RZPDo839C08122D retinol binding protein 4, plasma (RBP4) gene, encodes complete protein.
CU676592 - Synthetic construct Homo sapiens gateway clone IMAGE:100022106 5' read RBP4 mRNA.
KJ897458 - Synthetic construct Homo sapiens clone ccsbBroadEn_06852 RBP4 gene, encodes complete protein.
KR711247 - Synthetic construct Homo sapiens clone CCSBHm_00021404 RBP4 (RBP4) mRNA, encodes complete protein.
KR711248 - Synthetic construct Homo sapiens clone CCSBHm_00021405 RBP4 (RBP4) mRNA, encodes complete protein.
DQ894558 - Synthetic construct Homo sapiens clone IMAGE:100009018; FLH176376.01L; RZPDo839C08121D retinol binding protein 4, plasma (RBP4) gene, encodes complete protein.
AB527944 - Synthetic construct DNA, clone: pF1KB6882, Homo sapiens RBP4 gene for retinol binding protein 4, plasma, without stop codon, in Flexi system.
LF345559 - JP 2014500723-A/153062: Polycomb-Associated Non-Coding RNAs.
LF212783 - JP 2014500723-A/20286: Polycomb-Associated Non-Coding RNAs.
LF213445 - JP 2014500723-A/20948: Polycomb-Associated Non-Coding RNAs.
MA581136 - JP 2018138019-A/153062: Polycomb-Associated Non-Coding RNAs.
MA446893 - JP 2018138019-A/18819: Polycomb-Associated Non-Coding RNAs.
MA448360 - JP 2018138019-A/20286: Polycomb-Associated Non-Coding RNAs.
MA449022 - JP 2018138019-A/20948: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6857 - retinol biosynthesis
PWY-6861 - the visual cycle I (vertebrates)
PWY-6872 - retinoate biosynthesis I
PWY-6875 - retinoate biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein P02753 (Reactome details) participates in the following event(s):

R-HSA-2404135 RBP4 binds atROL
R-HSA-2404134 RBP4:atROL binds TTR
R-HSA-2453863 STRA6 transports atROL from extracellular region to cytosol
R-HSA-2453876 TTR:RBP:atROL binds to STRA6 receptor
R-HSA-975634 Retinoid metabolism and transport
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-2187338 Visual phototransduction
R-HSA-6806667 Metabolism of fat-soluble vitamins
R-HSA-6809583 Retinoid metabolism disease events
R-HSA-418594 G alpha (i) signalling events
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-2474795 Diseases associated with visual transduction
R-HSA-2453864 Retinoid cycle disease events
R-HSA-388396 GPCR downstream signalling
R-HSA-1430728 Metabolism
R-HSA-5663202 Diseases of signal transduction
R-HSA-372790 Signaling by GPCR
R-HSA-1643685 Disease
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: D3DR38, ENST00000371464.1, ENST00000371464.2, ENST00000371464.3, ENST00000371464.4, ENST00000371464.5, ENST00000371464.6, ENST00000371464.7, NM_006744, O43478, O43479, P02753, PRO2222, Q5VY24, Q8WWA3, Q9P178, RET4_HUMAN, uc318jdv.1, uc318jdv.2
UCSC ID: ENST00000371464.8_7
RefSeq Accession: NM_006744.4
Protein: P02753 (aka RET4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.