Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5949
Gene name	Retinol binding protein 3
Gene symbol	RBP3
Synonyms (NCBI Gene)	D10S64D10S65D10S66IRBPRBPIRP66
Chromosome	10
Chromosome location	10q11.22
Summary	Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport re

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34932849	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143076262	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146038948	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146150511	G>A	Pathogenic	Coding sequence variant, missense variant
rs146175391	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148591757	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782215106	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs782469310	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs782604129	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs917821437	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588865728	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
MIRT1297372	hsa-miR-146b-3p	CLIP-seq
MIRT1297373	hsa-miR-1913	CLIP-seq
MIRT1297374	hsa-miR-3120-5p	CLIP-seq
MIRT1297375	hsa-miR-3173-5p	CLIP-seq
MIRT1297376	hsa-miR-3194-3p	CLIP-seq
MIRT1297377	hsa-miR-324-3p	CLIP-seq
MIRT1297378	hsa-miR-346	CLIP-seq
MIRT1297379	hsa-miR-4283	CLIP-seq
MIRT1297380	hsa-miR-4288	CLIP-seq
MIRT1297381	hsa-miR-4292	CLIP-seq
MIRT1297382	hsa-miR-4489	CLIP-seq
MIRT1297383	hsa-miR-632	CLIP-seq
MIRT1297384	hsa-miR-760	CLIP-seq
MIRT1297385	hsa-miR-874	CLIP-seq
MIRT2088387	hsa-miR-1292	CLIP-seq
MIRT2088388	hsa-miR-1343	CLIP-seq
MIRT2088389	hsa-miR-3121-5p	CLIP-seq
MIRT2088390	hsa-miR-4268	CLIP-seq
MIRT2088391	hsa-miR-4448	CLIP-seq
MIRT2088392	hsa-miR-4471	CLIP-seq
MIRT2088393	hsa-miR-4646-5p	CLIP-seq

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Transcription factor	Regulation	Reference
CRX	Activation	12409453
CRX	Repression	15277472
CRX	Unknown	11934446
KLF15	Repression	15277472;15963234
NRL	Repression	15277472
OTX2	Activation	10354480;10372988
OTX2	Unknown	18628516
ZNF239	Repression	12409453

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0005501	Function	Retinoid binding	TAS	2542268
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	23486466
GO:0006508	Process	Proteolysis	IEA
GO:0006629	Process	Lipid metabolic process	TAS	2542268
GO:0007601	Process	Visual perception	TAS	2542268
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016918	Function	Retinal binding	IEA
GO:0019841	Function	Retinol binding	IBA
GO:0019841	Function	Retinol binding	IEA
GO:0033165	Component	Interphotoreceptor matrix	IEA
GO:0090658	Component	Cone matrix sheath	IBA
GO:1903561	Component	Extracellular vesicle	HDA	24769233

MIM	HGNC	e!Ensembl
180290	9921	ENSG00000265203

P10745

Protein name

Retinol-binding protein 3 (Interphotoreceptor retinoid-binding protein) (IRBP) (Interstitial retinol-binding protein)

Protein function

IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11918	Peptidase_S41_N	21 → 127		Domain
PF03572	Peptidase_S41	129 → 307	Peptidase family S41	Family
PF11918	Peptidase_S41_N	309 → 436		Domain
PF03572	Peptidase_S41	438 → 617	Peptidase family S41	Family
PF11918	Peptidase_S41_N	619 → 740		Domain
PF03572	Peptidase_S41	742 → 918	Peptidase family S41	Family
PF11918	Peptidase_S41_N	920 → 1039		Domain
PF03572	Peptidase_S41	1041 → 1217	Peptidase family S41	Family

Sequence

MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHE
ILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRG
LRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGI
PYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAE
DIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSG
VLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFS
TVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEA
IRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRH
NPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLL
TSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFID
NHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQT
SALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAV
PSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVI
DLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDL
YILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMS
ATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAK
MATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIP
SPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIID
MRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMV
ILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGA
SDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL

Sequence length

1247

Interactions

View interactions

	Reactome
			The retinoid cycle in cones (daylight vision) The canonical retinoid cycle in rods (twilight vision)

306

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic	rs782245537	RCV001257783
Cone-rod dystrophy	Pathogenic	rs1588865728	RCV002267760
RBP3-related disorder	Likely pathogenic	rs781793052	RCV003391342
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2549027726, rs1392992564, rs2132257029, rs1565767178, rs781881541, rs782463303	RCV004817057 RCV003889523 RCV003889525 RCV003889528 RCV001073631 RCV003890354
Retinitis pigmentosa	Pathogenic	rs1555210929, rs1836974640	RCV001199531 RCV001199530
Retinitis pigmentosa 66	Likely pathogenic; Pathogenic	rs1555211286, rs2549028615, rs146150511, rs1836931186, rs782574616, rs782245537	RCV001376430 RCV002468771 RCV000043517 RCV001078178 RCV001810002 RCV001376320

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital stationary night blindness	Uncertain significance	rs782604129	RCV000505002
Hypercholesterolemia, familial, 1	Uncertain significance	rs561239259	RCV006274452
Optic atrophy	Uncertain significance	rs200239015	RCV004816318
Retinitis Pigmentosa, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	rs139717453, rs886047015, rs747769509, rs146269396	RCV000349500 RCV000394922 RCV000322554 RCV000261360

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autoimmune Diseases	Associate	16030131
Carcinoma Hepatocellular	Associate	33845647
Exfoliation Syndrome	Associate	30842085
Familial medullary thyroid carcinoma	Associate	2576939
Hypertensive Retinopathy	Associate	37806543
Mucocutaneous Lymph Node Syndrome	Associate	37550746
Multiple Endocrine Neoplasia Type 2a	Associate	1968709, 1978561, 1979053, 2906045
Myopia	Associate	37806543
Nerve Degeneration	Associate	19074801
Osler rendu weber syndrome 2	Associate	23882694
Parathyroid Neoplasms	Associate	1978560
Pheochromocytoma	Associate	1978560
Retinal Dystrophies	Associate	37806543
Retinitis	Associate	23882694
Retinitis Pigmentosa	Associate	19074801
Retinoblastoma	Associate	11134581, 11934446
Retinoschisis	Associate	34991515
Thyroid cancer medullary	Associate	1978560

RBP3 (retinol binding protein 3)