RRBP1

Summary

RRBP1 (ribosome binding protein 1, HGNC:10448) is a protein-coding gene on chromosome 20p12.1, encoding Ribosome-binding protein 1 (Q9P2E9). Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.

This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12.

Source: NCBI Gene 6238 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 258 total
• Druggable target: yes
• MANE Select transcript: NM_001365613

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10448
Approved symbol	RRBP1
Name	ribosome binding protein 1
Location	20p12.1
Locus type	gene with protein product
Status	Approved
Aliases	ES/130, hES, p180
Ensembl gene	ENSG00000125844
Ensembl biotype	protein_coding
OMIM	601418
Entrez	6238

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000246043, ENST00000360807, ENST00000377807, ENST00000377813, ENST00000398782, ENST00000455029, ENST00000468428, ENST00000470422, ENST00000495501, ENST00000620641, ENST00000853412, ENST00000853413, ENST00000853414, ENST00000923164, ENST00000971286

RefSeq mRNA: 3 — MANE Select: NM_001365613 NM_001042576, NM_001365613, NM_004587

CCDS: CCDS13128, CCDS93010

Canonical transcript exons

ENST00000377813 — 25 exons

Exon	Start	End
ENSE00000859235	17624576	17624668
ENSE00000859237	17625512	17625602
ENSE00000859238	17627348	17627382
ENSE00000859246	17635546	17635664
ENSE00000859249	17636577	17636729
ENSE00000859251	17641797	17641919
ENSE00001475231	17658596	17660528
ENSE00001475234	17679999	17680075
ENSE00001475235	17682028	17682242
ENSE00003540983	17615431	17615529
ENSE00003556867	17614737	17614880
ENSE00003573046	17633460	17633613
ENSE00003574008	17615926	17616009
ENSE00003583100	17627504	17627682
ENSE00003592274	17642979	17643127
ENSE00003627216	17629823	17629961
ENSE00003673622	17621855	17621947
ENSE00003693209	17616732	17616839
ENSE00003711906	17619633	17619728
ENSE00003714800	17621690	17621773
ENSE00003720313	17620715	17620807
ENSE00003726998	17618596	17618679
ENSE00003742610	17620299	17620370
ENSE00003749257	17621458	17621547
ENSE00003888811	17613679	17614220

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 125.0647 / max 1441.2454, expressed in 1825 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186518	87.2701	1821
186517	32.3145	1807
186516	2.3519	1050
186515	0.7389	423
186513	0.6650	342
186509	0.5451	303
186510	0.3703	206
186508	0.3453	120
186512	0.3051	133
186511	0.1202	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	99.28	gold quality
parotid gland	UBERON:0001831	99.26	gold quality
tendon of biceps brachii	UBERON:0008188	99.11	gold quality
pylorus	UBERON:0001166	98.53	gold quality
stromal cell of endometrium	CL:0002255	98.46	gold quality
sural nerve	UBERON:0015488	98.33	gold quality
right lobe of liver	UBERON:0001114	98.19	gold quality
colonic epithelium	UBERON:0000397	98.14	gold quality
nasal cavity mucosa	UBERON:0001826	98.12	gold quality
mucosa of transverse colon	UBERON:0004991	98.08	gold quality
right lobe of thyroid gland	UBERON:0001119	98.04	gold quality
left lobe of thyroid gland	UBERON:0001120	97.97	gold quality
trachea	UBERON:0003126	97.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.94	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.91	gold quality
liver	UBERON:0002107	97.85	gold quality
cardia of stomach	UBERON:0001162	97.84	gold quality
thyroid gland	UBERON:0002046	97.80	gold quality
calcaneal tendon	UBERON:0003701	97.80	gold quality
placenta	UBERON:0001987	97.78	gold quality
colonic mucosa	UBERON:0000317	97.71	gold quality
saliva-secreting gland	UBERON:0001044	97.71	gold quality
nasal cavity epithelium	UBERON:0005384	97.64	gold quality
pancreas	UBERON:0001264	97.58	gold quality
minor salivary gland	UBERON:0001830	97.35	gold quality
stomach	UBERON:0000945	97.23	gold quality
body of stomach	UBERON:0001161	97.19	gold quality
gall bladder	UBERON:0002110	97.13	gold quality
transverse colon	UBERON:0001157	96.86	gold quality
tendon	UBERON:0000043	96.78	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	94.15
E-MTAB-9467	yes	60.43
E-CURD-122	yes	51.35
E-CURD-46	yes	48.86
E-GEOD-135922	yes	39.12
E-GEOD-81547	yes	17.30
E-CURD-112	yes	16.87
E-MTAB-9067	yes	13.70
E-HCAD-1	yes	13.46
E-HCAD-10	yes	7.04
E-MTAB-10553	yes	6.57
E-MTAB-6678	yes	6.34
E-CURD-135	no	925.67
E-GEOD-125970	no	7.75
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting RRBP1, 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-4283	100.00	66.42	2097
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-4741	97.69	64.14	883

Literature-anchored findings (GeneRIF, showing 19)

• Results identify the ribosome receptor, p180, as a binding partner of the kinesin heavy chain isoform KIF5B. (PMID:15184079)
• These data suggest that p180 mediates interactions between the endoplasmic reticulum and microtubules mainly through the novel microtubule-binding and -bundling domain MTB-1. (PMID:17634287)
• over-expression of p180R failed to increase secretory pathway proteins calnexin, SEC61beta, and calreticulin, or ribosome biogenesis (PMID:18083570)
• results obtained demonstrate that p180 is both necessary & sufficient to induce a secretory phenotype in mammalian cells; findings support a central role for p180 in the terminal differentiation of secretory cells & tissues (PMID:19037105)
• the discovery overexpression of GPD1 and RRBP1 proteins and lack of expression for HNRNPH1 and SERPINB6 proteins which are new candidate biomarkers of colon cancer. (PMID:19425502)
• A novel function of p180-abundant endoplasmic reticulum on the trans-Golgi network expansion, both of which are highly developed in various professional secretory cells. (PMID:19932094)
• p180 plays crucial roles in enhancing collagen biosynthesis at the entry site of the secretory compartments by a novel mechanism that mainly involves facilitating ribosome association on the ER. (PMID:20647306)
• p180 is concentrated in ER sheets by interacting with polysomes and may play a role in ER morphology. (PMID:21111237)
• p180 promotes the ribosome-independent localization of a subset of mRNA to the endoplasmic reticulum. (PMID:22679391)
• RRBP1 could alleviate ER stress and help cancer cell survive (PMID:23318453)
• Data indicate that p180 is required for the efficient targeting of placental alkaline phosphatase (ALPP) mRNA to the endoplasmic reticulum (ER). (PMID:24019514)
• High RRBP1 expression facilitates colorectal cancer progression and predicts an unfavourable post-operative prognosis. (PMID:26196185)
• RRBP1 expression was an independent prognostic factor for overall survival (OS) and disease-free survival (DFS) in patients with endometrial carcinoma (EC) (both P < 0.05). (PMID:30684972)
• Expression of RRBP1 in epithelial ovarian cancer and its clinical significance. (PMID:31285390)
• we found that E2F1 could bind to the RRBP1 promoter and promote the transcription of RRBP1, and the E2F1/RRBP1 axis played an important role in the process of high glucose promoting the proliferation, migration and invasion of HepG2 cells (hepatocellular carcinoma) (PMID:32289433)
• Correlation between reticulum ribosome-binding protein 1 (RRBP1) overexpression and prognosis in cervical squamous cell carcinoma. (PMID:32536673)
• RRBP1 rewires cisplatin resistance in oral squamous cell carcinoma by regulating Hippo pathway. (PMID:33762722)
• Hypomethylated RRBP1 Potentiates Tumor Malignancy and Chemoresistance in Upper Tract Urothelial Carcinoma. (PMID:34445467)
• ER ribosomal-binding protein 1 regulates blood pressure and potassium homeostasis by modulating intracellular renin trafficking. (PMID:36803854)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rrbp1a	ENSDARG00000013763
danio_rerio	rrbp1b	ENSDARG00000041703
mus_musculus	Rrbp1	ENSMUSG00000027422
rattus_norvegicus	Rrbp1	ENSRNOG00000005958
drosophila_melanogaster	alt	FBGN0038535

Protein

Protein identifiers

Ribosome-binding protein 1 — Q9P2E9 (reviewed: Q9P2E9)

Alternative names: 180 kDa ribosome receptor homolog, ES/130-related protein, Ribosome receptor protein

All UniProt accessions (5): Q9P2E9, A0A087WU26, A2A2S5, F8W7S5, V9GY78

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.

Subcellular location. Endoplasmic reticulum membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P2E9-1	1	yes
Q9P2E9-3	2, ES130

RefSeq proteins (3): NP_001036041, NP_001352542, NP_004578 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007794	Rib_rcpt_KP	Domain
IPR040248	RRBP1	Family

Pfam: PF05104

UniProt features (94 total): repeat 41, modified residue 16, compositionally biased region 12, region of interest 9, sequence conflict 7, topological domain 2, cross-link 2, splice variant 2, chain 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2E9-F1	70.52	0.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (18): 159, 165, 225, 235, 245, 255, 533, 573, 583, 615, 900, 932, 959, 978, 1276, 1277, 148, 620

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9725370	Signaling by ALK fusions and activated point mutants
R-HSA-9918487	Dengue Virus Genome Translation and Replication
R-HSA-1643685	Disease
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-9700206	Signaling by ALK in cancer

MSigDB gene sets: 239 (showing top): RNGTGGGC_UNKNOWN, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_OSTEOBLAST_DIFFERENTIATION, TGACCTY_ERR1_Q2, RODRIGUES_NTN1_TARGETS_DN, COUP_01, GOBP_TRANSLATION, TERAMOTO_OPN_TARGETS_CLUSTER_7, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, BLALOCK_ALZHEIMERS_DISEASE_UP, ACATTCC_MIR1_MIR206, PPAR_DR1_Q2, IRF_Q6

GO Biological Process (3): osteoblast differentiation (GO:0001649), translation (GO:0006412), protein transport (GO:0015031)

GO Molecular Function (3): RNA binding (GO:0003723), signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), ribosome (GO:0005840), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Signaling by ALK in cancer	1
Dengue Virus Infection	1
Disease	1
Diseases of signal transduction by growth factor receptors and second messengers	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ossification	1
cell differentiation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
nucleic acid binding	1
molecular transducer activity	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular membraneless organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

275 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
ZWINT	NDC80	psi-mi:“MI:0914”(association)	0.940
EEF1G	EEF1B2	psi-mi:“MI:0914”(association)	0.890
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RRBP1	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.590
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
ANK2	RRBP1	psi-mi:“MI:0915”(physical association)	0.560
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
RRBP1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	APBA1	psi-mi:“MI:0407”(direct interaction)	0.440
PDZRN3	RRBP1	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
RRBP1	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (434): RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), MORC2 (Co-fractionation), RBM8A (Co-fractionation), RRBP1 (Co-fractionation), RRBP1 (Co-fractionation), RRBP1 (Proximity Label-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS), RRBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D1CKI0, A0A0H3K686, A0A6B9KZ90, A6QQF6, D2K835, O24006, O88492, P01357, P02674, P02894, P02976, P04922, P05222, P05226, P05995, P08672, P08673, P08674, P08675, P08676, P08677, P08798, P0A015, P0DRJ4, P13673, P13826, P14606, P38507, P81592, P99134, Q03110, Q03646, Q09180, Q1ELU4, Q1ELU5, Q28201, Q28298, Q29428, Q42626, Q42627

Diamond homologs: O97961, Q28298, Q61595, Q86UP2, Q90631, Q99PL5, Q9P2E9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 223 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Eukaryotic Translation Elongation	8	14.9×	2e-05
Eukaryotic Translation Initiation	5	10.4×	3e-03
Cap-dependent Translation Initiation	5	10.4×	3e-03
SARS-CoV-1 modulates host translation machinery	5	10.4×	3e-03
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	5	9.1×	5e-03
RHOQ GTPase cycle	7	8.5×	2e-03
Assembly and cell surface presentation of NMDA receptors	5	8.5×	7e-03
Influenza Infection	7	8.2×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
receptor clustering	5	16.0×	8e-03
establishment or maintenance of epithelial cell apical/basal polarity	5	14.9×	8e-03
cytoplasmic translation	11	10.4×	1e-05
ribosomal small subunit biogenesis	7	8.2×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	165
Likely benign	24
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

4993 predictions. Top by Δscore:

Variant	Effect	Δscore
20:17614712:C:CA	donor_gain	1.0000
20:17614735:A:AC	donor_gain	1.0000
20:17614736:C:CC	donor_gain	1.0000
20:17614736:CTG:C	donor_gain	1.0000
20:17614753:T:A	donor_gain	1.0000
20:17614781:C:CA	donor_gain	1.0000
20:17615447:T:TA	donor_gain	1.0000
20:17615531:T:C	acceptor_gain	1.0000
20:17615922:TGACC:T	donor_loss	1.0000
20:17615923:GAC:G	donor_loss	1.0000
20:17615924:AC:A	donor_loss	1.0000
20:17615925:C:CG	donor_loss	1.0000
20:17615927:T:TA	donor_gain	1.0000
20:17616022:C:CT	acceptor_gain	1.0000
20:17616022:C:T	acceptor_gain	1.0000
20:17618681:T:C	acceptor_gain	1.0000
20:17618681:T:TC	acceptor_gain	1.0000
20:17618705:A:C	acceptor_gain	1.0000
20:17619631:ACC:A	donor_gain	1.0000
20:17619632:CCC:C	donor_gain	1.0000
20:17619643:T:TA	donor_gain	1.0000
20:17620294:CATA:C	donor_loss	1.0000
20:17620295:ATAC:A	donor_loss	1.0000
20:17620296:TA:T	donor_loss	1.0000
20:17620297:A:T	donor_loss	1.0000
20:17620298:C:G	donor_loss	1.0000
20:17620366:CGGGA:C	acceptor_gain	1.0000
20:17620371:C:CC	acceptor_gain	1.0000
20:17620532:T:TA	donor_gain	1.0000
20:17620662:C:A	donor_gain	1.0000

AlphaMissense

9238 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:17620788:A:G	L1145P	0.999
20:17660443:G:T	A22D	0.999
20:17635580:C:G	A808P	0.998
20:17635588:A:G	L805P	0.998
20:17660437:C:T	G24D	0.998
20:17660438:C:G	G24R	0.998
20:17620797:A:G	L1142P	0.997
20:17635585:C:G	R806P	0.997
20:17635609:A:G	L798P	0.997
20:17660455:A:T	M18K	0.997
20:17660462:C:G	G16R	0.997
20:17660462:C:T	G16R	0.997
20:17621468:A:G	L1135P	0.996
20:17635568:C:G	A812P	0.996
20:17660428:A:G	L27P	0.996
20:17660444:C:G	A22P	0.996
20:17660449:A:T	V20D	0.996
20:17660455:A:C	M18R	0.996
20:17660461:C:T	G16E	0.996
20:17660465:C:G	G15R	0.996
20:17660465:C:T	G15R	0.996
20:17641804:A:G	L726P	0.995
20:17643031:A:G	L670P	0.995
20:17660452:A:T	V19D	0.995
20:17660464:C:T	G15E	0.995
20:17621477:C:G	R1132P	0.994
20:17641813:A:G	L723P	0.994
20:17641876:A:G	L702P	0.994
20:17660470:A:T	V13D	0.994
20:17660425:A:T	V28E	0.993

dbSNP variants (sampled 300 via entrez): RS1000026925 (20:17648847 G>A), RS1000033382 (20:17676108 C>A), RS1000038609 (20:17682807 C>A,T), RS1000085264 (20:17675854 G>A), RS1000119593 (20:17653693 G>A,T), RS1000218013 (20:17653393 T>C), RS1000268074 (20:17675673 C>A,T), RS1000294637 (20:17622877 C>A,T), RS1000316729 (20:17654139 G>A), RS1000365363 (20:17626563 G>A), RS1000396386 (20:17626412 C>A,T), RS1000429378 (20:17659825 T>C), RS1000475942 (20:17630608 T>C), RS1000549038 (20:17630328 G>A), RS1000571181 (20:17665122 C>A,G)

Disease associations

OMIM: gene MIM:601418 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST005196_242	Coronary artery disease	1.000000e-06
GCST006147_5	Frontotemporal dementia (age at onset)	1.000000e-06
GCST006149_6	Frontotemporal dementia with GRN mutation (age at onset)	5.000000e-06
GCST008839_370	Height	2.000000e-09
GCST010241_193	Apolipoprotein A1 levels	2.000000e-26
GCST010242_19	HDL cholesterol levels	1.000000e-16
GCST011368_7	Iron status biomarkers (total iron binding capacity)	2.000000e-08
GCST90002381_358	Eosinophil count	2.000000e-14
GCST90002382_527	Eosinophil percentage of white cells	1.000000e-10
GCST90002400_293	Plateletcrit	1.000000e-09
GCST90002402_583	Platelet count	5.000000e-09
GCST90011900_5	Serum alkaline phosphatase levels	5.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0006334	total iron binding capacity
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007985	platelet crit
EFO:0004309	platelet count
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067172 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.56	Kd	277.3	nM	CHEMBL5653589
6.56	ED50	277.3	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149320: Binding affinity to human RRBP1 incubated for 45 mins by Kinobead based pull down assay	kd	0.2773	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment	5
sodium arsenite	affects binding, increases reaction, decreases expression, increases abundance, increases expression	4
methylmercuric chloride	increases expression, affects cotreatment	3
trichostatin A	affects cotreatment, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
bisphenol A	affects expression, increases expression	2
arsenite	affects binding, increases reaction, increases methylation	2
entinostat	increases expression, affects cotreatment	2
Air Pollutants	increases abundance, increases oxidation, affects expression, affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Doxorubicin	affects expression, increases expression	2
Nickel	increases expression	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance, affects expression	2
Tretinoin	increases expression	2
Zinc	decreases expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
testosterone enanthate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
deoxynivalenol	decreases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression, decreases expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
cupric chloride	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652362	Binding	Binding affinity to human RRBP1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2E9	Abcam HeLa RRBP1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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