RBP7

Summary

RBP7 (retinol binding protein 7, HGNC:30316) is a protein-coding gene on chromosome 1p36.22, encoding Retinoid-binding protein 7 (Q96R05). Intracellular transport of retinol.

The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs.

Source: NCBI Gene 116362 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_052960

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30316
Approved symbol	RBP7
Name	retinol binding protein 7
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	CRBPIV
Ensembl gene	ENSG00000162444
Ensembl biotype	protein_coding
OMIM	608604
Entrez	116362

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay

ENST00000294435, ENST00000315901, ENST00000853118, ENST00000853119, ENST00000911541, ENST00000959464

RefSeq mRNA: 1 — MANE Select: NM_052960 NM_052960

CCDS: CCDS109

Canonical transcript exons

ENST00000294435 — 4 exons

Exon	Start	End
ENSE00001937141	9997228	9997331
ENSE00003508304	10015782	10016021
ENSE00003669191	10008173	10008274
ENSE00003680187	10007570	10007748

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 98.75.

FANTOM5 (CAGE): breadth broad, TPM avg 6.5819 / max 667.9750, expressed in 861 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
546	3.8514	621
545	1.6482	602
543	0.7044	175
544	0.2989	152
542	0.0790	37

Top tissues by expression

251 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adipose tissue of abdominal region	UBERON:0007808	98.75	gold quality
omental fat pad	UBERON:0010414	98.73	gold quality
peritoneum	UBERON:0002358	98.66	gold quality
pericardium	UBERON:0002407	98.46	gold quality
adipose tissue	UBERON:0001013	98.33	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.13	gold quality
monocyte	CL:0000576	97.51	gold quality
leukocyte	CL:0000738	97.42	gold quality
spleen	UBERON:0002106	96.13	gold quality
apex of heart	UBERON:0002098	96.04	gold quality
granulocyte	CL:0000094	95.79	gold quality
vena cava	UBERON:0004087	95.39	gold quality
lower esophagus mucosa	UBERON:0035834	93.86	gold quality
mucosa of stomach	UBERON:0001199	93.85	gold quality
tendon of biceps brachii	UBERON:0008188	93.78	gold quality
heart left ventricle	UBERON:0002084	93.52	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.48	gold quality
cardiac ventricle	UBERON:0002082	93.39	gold quality
gall bladder	UBERON:0002110	92.57	gold quality
heart	UBERON:0000948	92.55	gold quality
left ventricle myocardium	UBERON:0006566	92.37	gold quality
trabecular bone tissue	UBERON:0002483	92.31	gold quality
right atrium auricular region	UBERON:0006631	92.18	gold quality
spinal cord	UBERON:0002240	92.13	gold quality
cardiac atrium	UBERON:0002081	91.92	gold quality
skin of hip	UBERON:0001554	91.87	gold quality
mammary gland	UBERON:0001911	91.75	gold quality
thoracic mammary gland	UBERON:0005200	91.75	gold quality
myocardium	UBERON:0002349	91.33	gold quality
left lobe of thyroid gland	UBERON:0001120	91.03	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-9841	yes	2233.64
E-GEOD-124263	yes	1971.05
E-MTAB-10137	yes	981.60
E-MTAB-3929	yes	481.40
E-GEOD-134144	yes	48.54
E-CURD-112	yes	25.30
E-HCAD-9	yes	22.57
E-HCAD-10	yes	14.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARG

miRNA regulators (miRDB)

9 targeting RBP7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-7850-5P	98.12	67.28	1111
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-1181	87.50	67.85	7

Literature-anchored findings (GeneRIF, showing 3)

• Human CRBP IV belongs to a clearly distinct CRBP subfamily and suggest a relatively different mode of retinol binding for this binding protein. (PMID:12177003)
• Reduced Expression of RBP7 is Associated with Resistance to Tamoxifen In Luminal A Breast Cancer. (PMID:36537604)
• RBP7 Regulated by EBF1 Affects Th2 Cells and the Oocyte Meiosis Pathway in Bone Metastases of Bladder Urothelial Carcinoma. (PMID:37664915)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbp7b	ENSDARG00000070486
mus_musculus	Rbp7	ENSMUSG00000028996
rattus_norvegicus	Rbp7	ENSRNOG00000015850
drosophila_melanogaster	fabp	FBGN0037913
caenorhabditis_elegans		WBGENE00002259
caenorhabditis_elegans		WBGENE00002260

Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), FABP2 (ENSG00000145384), PMP2 (ENSG00000147588), FABP1 (ENSG00000163586), FABP7 (ENSG00000164434), FABP5 (ENSG00000164687), CRABP1 (ENSG00000166426), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP12 (ENSG00000197416), FABP9 (ENSG00000205186)

Protein

Protein identifiers

Retinoid-binding protein 7 — Q96R05 (reviewed: Q96R05)

Alternative names: Cellular retinoic acid-binding protein 4, Cellular retinoic acid-binding protein IV

All UniProt accessions (2): B1AQ60, Q96R05

UniProt curated annotations — full annotation on UniProt →

Function. Intracellular transport of retinol.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed primarily in kidney, heart and transverse colon. Detected in adult lymph node, appendix, ascending colon, and in fetal heart and spleen.

Domain organisation. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.

Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.

RefSeq proteins (1): NP_443192* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000463	Fatty_acid-bd	Domain
IPR000566	Lipocln_cytosolic_FA-bd_dom	Domain
IPR012674	Calycin	Homologous_superfamily
IPR031259	ILBP	Family

Pfam: PF00061

UniProt features (14 total): strand 10, helix 2, chain 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6AT8	X-RAY DIFFRACTION	1.1
6E6K	X-RAY DIFFRACTION	1.3
1LPJ	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96R05-F1	96.32	0.95

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 115 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_ORGANIC_ACID_TRANSPORT, MARTINEZ_RB1_TARGETS_UP, WONG_ENDMETRIUM_CANCER_DN, GOBP_ORGANIC_ANION_TRANSPORT, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, YAMASHITA_METHYLATED_IN_PROSTATE_CANCER, RICKMAN_HEAD_AND_NECK_CANCER_A, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT

GO Biological Process (1): fatty acid transport (GO:0015908)

GO Molecular Function (6): fatty acid binding (GO:0005504), retinal binding (GO:0016918), retinol binding (GO:0019841), retinoid binding (GO:0005501), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
retinoid binding	2
vitamin binding	2
binding	2
cellular anatomical structure	2
lipid transport	1
monocarboxylic acid transport	1
lipid binding	1
monocarboxylic acid binding	1
alcohol binding	1
isoprenoid binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

506 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBP7	POLR2D	O15514	759
RBP7	POLR2G	P52433	509
RBP7	POLR2K	P53803	459
RBP7	RARS1	P54136	456
RBP7	LRRK1	Q38SD2	434
RBP7	CRISP1	P54107	415
RBP7	RBP4	P02753	413
RBP7	UBE4B	O95155	396
RBP7	CIC	Q96RK0	392
RBP7	MSLN	Q13421	389
RBP7	LHFPL1	Q86WI0	386
RBP7	LZIC	Q8WZA0	371
RBP7	POLR2L	P52436	370
RBP7	EZH2	Q15910	353
RBP7	ATOH8	Q96SQ7	353

IntAct

17 interactions, top by confidence:

A	B	Type	Score
SOCS4	RBP7	psi-mi:“MI:0915”(physical association)	0.570
RBP7	PIK3R3	psi-mi:“MI:0915”(physical association)	0.570
PIK3R3	RBP7	psi-mi:“MI:0915”(physical association)	0.570
RBP7	SOCS4	psi-mi:“MI:0915”(physical association)	0.570
RBP7	NCKIPSD	psi-mi:“MI:0915”(physical association)	0.560
LHFPL4	ATP5F1B	psi-mi:“MI:0914”(association)	0.530
HSH2D	RBP7	psi-mi:“MI:0915”(physical association)	0.490
RBP7	HSH2D	psi-mi:“MI:0915”(physical association)	0.490
APPL2	RBP7	psi-mi:“MI:0915”(physical association)	0.370
RBP7	DOK4	psi-mi:“MI:0915”(physical association)	0.370
RBP7	DAPP1	psi-mi:“MI:0915”(physical association)	0.370
RBP7	NCKIPSD	psi-mi:“MI:0915”(physical association)	0.000
recC	RBP7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): RBP7 (Two-hybrid), RBP7 (Two-hybrid), RBP7 (Two-hybrid), RBP7 (Two-hybrid), RBP7 (Two-hybrid), RBP7 (Two-hybrid), PIK3R3 (Affinity Capture-Luminescence), RBP7 (Affinity Capture-Luminescence), NCKIPSD (Two-hybrid), RBP7 (Affinity Capture-RNA), RBP7 (Affinity Capture-MS), RBP7 (Co-fractionation), RBP7 (Co-fractionation)

ESM2 similar proteins: A0A0K0MJN3, A6NFH5, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O15540, P02694, P02696, P05413, P06768, P09455, P0C6G6, P10790, P15090, P24526, P29498, P41496, P41509, P48035, P50120, P50121, P51880, P55051, P55054, P70623, P80049, P82708, P82980, Q00915, Q02970, Q05423, Q05816, Q08652, Q09139, Q0Z7S8

Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02694, P02696, P04117, P05413, P06768, P07148, P07483, P09455, P0C6G6, P10790, P11404, P12710, P15090, P22935, P24526, P29373, P29498, P29762

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

22 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

631 predictions. Top by Δscore:

Variant	Effect	Δscore
1:10008172:GA:G	acceptor_gain	1.0000
1:9997328:CTAGG:C	donor_loss	1.0000
1:9997329:TAGG:T	donor_loss	1.0000
1:9997330:AGGTA:A	donor_loss	1.0000
1:9997331:GGTA:G	donor_loss	1.0000
1:9997332:GT:G	donor_loss	1.0000
1:9997333:T:G	donor_loss	1.0000
1:10007565:TTAA:T	acceptor_loss	0.9900
1:10007566:TAAGG:T	acceptor_loss	0.9900
1:10007568:A:AT	acceptor_loss	0.9900
1:10007569:G:GA	acceptor_loss	0.9900
1:10007747:AG:A	donor_loss	0.9900
1:10007748:GG:G	donor_loss	0.9900
1:10007749:G:GC	donor_loss	0.9900
1:10008171:A:AG	acceptor_gain	0.9900
1:10008172:G:GG	acceptor_gain	0.9900
1:10015774:C:CA	acceptor_gain	0.9900
1:10015774:C:G	acceptor_gain	0.9900
1:10015777:CCTA:C	acceptor_loss	0.9900
1:10015778:CTA:C	acceptor_loss	0.9900
1:10015779:TAGG:T	acceptor_loss	0.9900
1:10015780:A:T	acceptor_loss	0.9900
1:10015781:G:GA	acceptor_loss	0.9900
1:10015781:GGA:G	acceptor_gain	0.9900
1:10015781:GGAA:G	acceptor_gain	0.9900
1:9997332:G:GG	donor_gain	0.9900
1:10007568:A:G	acceptor_gain	0.9800
1:10007596:GCCAA:G	acceptor_gain	0.9800
1:10008172:GAGT:G	acceptor_gain	0.9800
1:10008258:G:GT	donor_gain	0.9800

AlphaMissense

909 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:10008239:T:A	W107R	0.987
1:10008239:T:C	W107R	0.987
1:9997283:T:A	W9R	0.986
1:9997283:T:C	W9R	0.986
1:10007588:G:C	R31P	0.983
1:10007707:T:C	F71L	0.982
1:10007709:T:A	F71L	0.982
1:10007709:T:G	F71L	0.982
1:10015818:T:C	F131L	0.982
1:10015820:C:A	F131L	0.982
1:10015820:C:G	F131L	0.982
1:10008173:A:C	S85R	0.981
1:10008175:T:A	S85R	0.981
1:10008175:T:G	S85R	0.981
1:9997285:G:C	W9C	0.981
1:9997285:G:T	W9C	0.981
1:10007689:T:C	F65L	0.976
1:10007691:T:A	F65L	0.976
1:10007691:T:G	F65L	0.976
1:10008273:T:C	L118P	0.975
1:10008180:T:A	V87D	0.974
1:10007597:C:A	A34D	0.973
1:10008241:G:C	W107C	0.972
1:10008241:G:T	W107C	0.972
1:10007662:A:C	S56R	0.971
1:10007664:C:A	S56R	0.971
1:10007664:C:G	S56R	0.971
1:10008208:T:G	C96W	0.970
1:10008267:T:C	L116P	0.969
1:10008235:A:C	R105S	0.966

dbSNP variants (sampled 300 via entrez): RS1000023223 (1:9996037 C>A,G,T), RS1000583112 (1:10006422 A>C), RS1000697610 (1:10006108 C>G), RS1000766994 (1:10012563 G>A), RS1000826839 (1:10002177 T>C), RS1000875945 (1:10012160 G>A), RS1000974493 (1:10000370 C>G), RS1001098230 (1:10015244 A>G), RS1001412448 (1:10008750 C>T), RS1001813165 (1:10001360 C>G), RS1001824363 (1:10005706 G>A), RS1001938982 (1:10005412 G>A), RS1002176889 (1:10008407 C>T), RS1002212586 (1:9999355 T>A), RS1002386406 (1:10014360 G>A)

Disease associations

OMIM: gene MIM:608604 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): Charcot-Marie-Tooth disease type 2 (MONDO:0018993)

Orphanet (1): Autosomal dominant Charcot-Marie-Tooth disease type 2 (Orphanet:64746)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Fatty acid-binding proteins

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	8
trichostatin A	increases expression	3
Estradiol	decreases expression, increases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects response to substance, increases expression, affects methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
terbufos	increases methylation	1
arsenite	increases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects methylation	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
ICG 001	decreases expression	1
dorsomorphin	increases expression, decreases expression, affects cotreatment	1
bisphenol S	increases expression	1
gardiquimod	decreases expression, decreases reaction	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease