RSRP1

Summary

RSRP1 (arginine and serine rich protein 1, HGNC:25234) is a protein-coding gene on chromosome 1p36.11, encoding Arginine/serine-rich protein 1 (Q9BUV0). Probably acts as a spliceosomal factor that contributes to spliceosome assembly and regulates the isoform switching of proteins such as PARP6.

Involved in spliceosomal complex assembly. Located in nucleus.

Source: NCBI Gene 57035 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 54 total — 2 pathogenic
• MANE Select transcript: NM_020317

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25234
Approved symbol	RSRP1
Name	arginine and serine rich protein 1
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	DJ465N24.2.1
Ensembl gene	ENSG00000117616
Ensembl biotype	protein_coding
OMIM	620030
Entrez	57035

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 9 protein_coding, 9 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 4 retained_intron

ENST00000243189, ENST00000431849, ENST00000450820, ENST00000473314, ENST00000475766, ENST00000491378, ENST00000498238, ENST00000561867, ENST00000562018, ENST00000564223, ENST00000564413, ENST00000565733, ENST00000566395, ENST00000566599, ENST00000567741, ENST00000568212, ENST00000568254, ENST00000568399, ENST00000568701, ENST00000568996, ENST00000569495, ENST00000570063, ENST00000879800, ENST00000879801, ENST00000879802, ENST00000917616

RefSeq mRNA: 2 — MANE Select: NM_020317 NM_001321772, NM_020317

CCDS: CCDS260

Canonical transcript exons

ENST00000243189 — 5 exons

Exon	Start	End
ENSE00001890856	25247309	25247454
ENSE00002588992	25242249	25242705
ENSE00003499491	25245150	25245301
ENSE00003607450	25243550	25243633
ENSE00003613589	25246444	25247029

Expression profiles

Bgee: expression breadth ubiquitous, 305 present calls, max score 99.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 70.3904 / max 1410.4113, expressed in 1821 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11089	68.1223	1820
11090	1.4062	760
11086	0.3937	165
11085	0.3778	195
11087	0.0903	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	99.13	gold quality
pylorus	UBERON:0001166	99.00	gold quality
monocyte	CL:0000576	98.92	gold quality
mononuclear cell	CL:0000842	98.90	gold quality
right uterine tube	UBERON:0001302	98.88	gold quality
granulocyte	CL:0000094	98.82	gold quality
adenohypophysis	UBERON:0002196	98.82	gold quality
pituitary gland	UBERON:0000007	98.78	gold quality
leukocyte	CL:0000738	98.75	gold quality
spleen	UBERON:0002106	98.74	gold quality
cardia of stomach	UBERON:0001162	98.67	gold quality
corpus epididymis	UBERON:0004359	98.64	gold quality
left lobe of thyroid gland	UBERON:0001120	98.61	gold quality
seminal vesicle	UBERON:0000998	98.60	gold quality
endocervix	UBERON:0000458	98.58	gold quality
minor salivary gland	UBERON:0001830	98.57	gold quality
right lobe of thyroid gland	UBERON:0001119	98.56	gold quality
right lung	UBERON:0002167	98.55	gold quality
cauda epididymis	UBERON:0004360	98.52	gold quality
right ovary	UBERON:0002118	98.47	gold quality
mucosa of transverse colon	UBERON:0004991	98.45	gold quality
saliva-secreting gland	UBERON:0001044	98.44	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.43	gold quality
thyroid gland	UBERON:0002046	98.42	gold quality
tonsil	UBERON:0002372	98.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.42	gold quality
primary visual cortex	UBERON:0002436	98.40	gold quality
metanephros cortex	UBERON:0010533	98.39	gold quality
cerebellar hemisphere	UBERON:0002245	98.38	gold quality
cerebellar cortex	UBERON:0002129	98.36	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-106540	yes	1683.26
E-MTAB-7052	yes	573.83
E-GEOD-36552	yes	558.45
E-CURD-122	yes	25.99
E-MTAB-9388	yes	10.92
E-GEOD-135922	yes	10.04
E-MTAB-10137	no	5.33
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting RSRP1, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-892A	99.54	68.16	1141

Literature-anchored findings (GeneRIF, showing 1)

• Results show that C1orf63 expression was elevated in tumor tissues and correlated with better prognosis for breast cancers with advanced stage but the underlying mechanism is unknown. (PMID:26209438)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rsrp1	ENSMUSG00000037266

Paralogs (8): SRSF5 (ENSG00000100650), RSRC2 (ENSG00000111011), SRSF9 (ENSG00000111786), SRSF3 (ENSG00000112081), SRSF7 (ENSG00000115875), SRSF4 (ENSG00000116350), SRSF6 (ENSG00000124193), SRSF1 (ENSG00000136450)

Protein

Protein identifiers

Arginine/serine-rich protein 1 — Q9BUV0 (reviewed: Q9BUV0)

All UniProt accessions (7): Q9BUV0, H3BMN1, H3BMX3, H3BP33, H3BT33, H3BTJ0, H3BVB7

UniProt curated annotations — full annotation on UniProt →

Function. Probably acts as a spliceosomal factor that contributes to spliceosome assembly and regulates the isoform switching of proteins such as PARP6.

Subcellular location. Nucleus.

Tissue specificity. Expressed in brain (at protein level).

Post-translational modifications. Phosphorylated. Phosphorylation at Ser-107 and Ser-109 mediates the interaction with spliceosome proteins.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the RSRP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BUV0-1	1	yes
Q9BUV0-2	2
Q9BUV0-3	3

RefSeq proteins (2): NP_001308701, NP_064713* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029656	RSRP1	Family

Pfam: PF17069

UniProt features (23 total): compositionally biased region 6, modified residue 5, region of interest 3, splice variant 3, mutagenesis site 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUV0-F1	51.29	0.06

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 (5): 12, 107, 109, 135, 274

Mutagenesis-validated functional residues (3):

Position	Phenotype
107–109	reduces interaction with spliceosome factors.
107	no effect on interaction with spliceosome factors.
109	no effect on interaction with spliceosome factors.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 246 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, BROWNE_HCMV_INFECTION_4HR_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, PAL_PRMT5_TARGETS_UP, BROWNE_HCMV_INFECTION_8HR_UP, TGCACTT_MIR519C_MIR519B_MIR519A, MORF_ATRX, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, SCHLOSSER_SERUM_RESPONSE_DN, MARSON_FOXP3_TARGETS_UP

GO Biological Process (1): spliceosomal complex assembly (GO:0000245)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mRNA splicing, via spliceosome	1
protein-RNA complex assembly	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

368 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RSRP1	TMEM50A	O95807	674
RSRP1	MACO1	Q8N5G2	659
RSRP1	CXorf58	Q96LI9	607
RSRP1	SYF2	O95926	572
RSRP1	RHCE	P18577	534
RSRP1	SMLR1	H3BR10	507
RSRP1	H3BT10	H3BT10	482
RSRP1	SUPT7L	O94864	424
RSRP1	C7orf25	Q9BPX7	397
RSRP1	KLHL28	Q9NXS3	383
RSRP1	MTPAP	Q9NVV4	375
RSRP1	PRMT2IP	Q6ZRI6	370
RSRP1	CHERP	Q8IWX8	370
RSRP1	METTL4	Q8N3J2	368
RSRP1	GPR132	Q9UNW8	356

IntAct

42 interactions, top by confidence:

A	B	Type	Score
RSRP1	CLK2	psi-mi:“MI:0915”(physical association)	0.840
CLK2	RSRP1	psi-mi:“MI:0915”(physical association)	0.840
RSRP1	CLK3	psi-mi:“MI:0915”(physical association)	0.830
CLK3	RSRP1	psi-mi:“MI:0915”(physical association)	0.830
RSRP1	C1QBP	psi-mi:“MI:0914”(association)	0.640
RSRP1	PSME3	psi-mi:“MI:0914”(association)	0.640
RSRP1	CCNL1	psi-mi:“MI:0915”(physical association)	0.560
SRPK2	RSRP1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
SRPK1	RSRP1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
RSRP1	rep	psi-mi:“MI:0915”(physical association)	0.370
BMP2K	RSRP1	psi-mi:“MI:0915”(physical association)	0.370
RSRP1	PRMT5	psi-mi:“MI:0915”(physical association)	0.370
RSRP1	DMWD	psi-mi:“MI:0914”(association)	0.350
CLK2	CASC3	psi-mi:“MI:0914”(association)	0.350
RSRP1	A2ML1	psi-mi:“MI:0914”(association)	0.350
	EBAG9	psi-mi:“MI:0914”(association)	0.350
RSRP1	CLK3	psi-mi:“MI:0915”(physical association)	0.000
RSRP1	CLK2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (388): RSRP1 (Two-hybrid), RSRP1 (Two-hybrid), RSRP1 (Affinity Capture-RNA), C1QBP (Affinity Capture-MS), TNPO3 (Affinity Capture-MS), CPSF6 (Affinity Capture-MS), FAM192A (Affinity Capture-MS), PSME3 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), ZNF579 (Affinity Capture-MS), RSRP1 (Two-hybrid), C1QBP (Affinity Capture-MS), DMWD (Affinity Capture-MS), DYNC1I2 (Affinity Capture-MS), ITGA2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1I8MUL8, A2AG58, A2AJT9, A6ZWC8, B3LKV0, B5VT41, B9UYK6, C1IWT1, C5IY45, C7GJ78, C8ZIQ5, E7KIY3, E7KVI3, E7M1C7, E7QAA9, E7QLB7, O14269, O23372, O94687, P0CO26, P0CO27, P11596, P30414, P30415, P33419, P97868, Q03063, Q08D57, Q18221, Q1LY77, Q23935, Q24669, Q3UC65, Q3YPH5, Q4R626, Q5LJZ2, Q5R840, Q5RAA7, Q5U2S0, Q66J90

Diamond homologs: Q1ECZ9, Q3UC65, Q4R626, Q5R840, Q5U2S0, Q9BUV0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	42
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
430826	Single allele	Pathogenic
430827	NC_000001.11:g.25324070_25331709del	Pathogenic

SpliceAI

2561 predictions. Top by Δscore:

Variant	Effect	Δscore
1:25242570:AG:A	donor_gain	1.0000
1:25242571:G:C	donor_gain	1.0000
1:25242701:GAATT:G	acceptor_gain	1.0000
1:25242704:TT:T	acceptor_gain	1.0000
1:25242705:TC:T	acceptor_loss	1.0000
1:25242706:C:CA	acceptor_loss	1.0000
1:25242706:C:CC	acceptor_gain	1.0000
1:25243546:TTA:T	donor_loss	1.0000
1:25243547:TACAT:T	donor_loss	1.0000
1:25243548:A:AC	donor_gain	1.0000
1:25243548:AC:A	donor_loss	1.0000
1:25243549:C:CA	donor_gain	1.0000
1:25243549:CA:C	donor_gain	1.0000
1:25243549:CAT:C	donor_gain	1.0000
1:25243549:CATT:C	donor_gain	1.0000
1:25243549:CATTA:C	donor_gain	1.0000
1:25243629:GACAG:G	acceptor_gain	1.0000
1:25243630:ACAG:A	acceptor_gain	1.0000
1:25243631:CAG:C	acceptor_gain	1.0000
1:25243631:CAGC:C	acceptor_gain	1.0000
1:25243632:AG:A	acceptor_gain	1.0000
1:25243633:GCTA:G	acceptor_loss	1.0000
1:25243634:C:CC	acceptor_gain	1.0000
1:25243634:CT:C	acceptor_loss	1.0000
1:25243643:T:TC	acceptor_gain	1.0000
1:25245144:ACTT:A	donor_loss	1.0000
1:25245147:TACTT:T	donor_loss	1.0000
1:25245148:A:AC	donor_gain	1.0000
1:25245148:AC:A	donor_loss	1.0000
1:25245148:ACTT:A	donor_gain	1.0000

AlphaMissense

1820 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:25242603:A:G	W287R	0.990
1:25242603:A:T	W287R	0.990
1:25245289:A:G	L178P	0.988
1:25246455:A:G	L170S	0.988
1:25242601:C:A	W287C	0.985
1:25242601:C:G	W287C	0.985
1:25245278:C:G	A182P	0.984
1:25245286:A:G	L179S	0.982
1:25245298:C:G	R175P	0.981
1:25245266:C:G	A186P	0.979
1:25245277:G:T	A182E	0.977
1:25245289:A:T	L178Q	0.976
1:25245273:T:A	K183N	0.975
1:25245273:T:G	K183N	0.975
1:25245232:A:G	L197S	0.974
1:25243559:A:C	F249L	0.971
1:25243559:A:T	F249L	0.971
1:25243561:A:G	F249L	0.971
1:25245265:G:T	A186E	0.966
1:25245222:A:C	S200R	0.964
1:25245222:A:T	S200R	0.964
1:25245224:T:G	S200R	0.964
1:25245263:C:G	A187P	0.964
1:25243556:G:C	S250R	0.959
1:25243556:G:T	S250R	0.959
1:25243558:T:G	S250R	0.959
1:25245229:G:T	P198Q	0.959
1:25242602:C:G	W287S	0.948
1:25246939:A:G	W9R	0.947
1:25246939:A:T	W9R	0.947

dbSNP variants (sampled 300 via entrez): RS1000107327 (1:25294833 G>C), RS1000116436 (1:25247001 G>A), RS1000138074 (1:25320263 A>G), RS1000178233 (1:25300020 G>A), RS1000182568 (1:25250529 A>G), RS1000314125 (1:25245361 G>A,T), RS1000357511 (1:25338456 C>G), RS1000392276 (1:25338618 C>G,T), RS1000451641 (1:25247980 C>A,T), RS1000637124 (1:25255624 CTTTAT>C), RS1000774611 (1:25247793 G>A), RS1000819430 (1:25249364 G>C), RS1000839575 (1:25252506 G>T), RS1000854848 (1:25273836 G>C), RS1000885917 (1:25272839 C>T)

Disease associations

OMIM: gene MIM:620030 | disease phenotypes: MIM:618920

GenCC curated gene-disease

Mondo (1): arrhythmogenic right ventricular dysplasia, familial, 14 (MONDO:0030062)

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001120_2	Erythrocyte sedimentation rate	2.000000e-09
GCST004605_52	Mean corpuscular hemoglobin concentration	3.000000e-13
GCST004621_5	Red cell distribution width	1.000000e-20
GCST90002386_310	High light scatter reticulocyte percentage of red cells	1.000000e-16
GCST90002391_54	Mean corpuscular hemoglobin concentration	5.000000e-45
GCST90002392_155	Mean corpuscular volume	6.000000e-68
GCST90002396_117	Mean reticulocyte volume	5.000000e-107
GCST90002397_616	Mean spheric corpuscular volume	7.000000e-94
GCST90002400_16	Plateletcrit	1.000000e-84
GCST90002401_7	Platelet distribution width	1.000000e-32
GCST90002402_531	Platelet count	6.000000e-27
GCST90002402_532	Platelet count	6.000000e-11
GCST90002404_456	Red cell distribution width	4.000000e-15

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0009188	Red cell distribution width
EFO:0010701	mean reticulocyte volume
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1043879	RSRP1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	3
Air Pollutants	affects expression, decreases expression, affects cotreatment, increases abundance	3
sodium arsenite	decreases expression, increases abundance	2
Acetaminophen	increases expression	2
Benzo(a)pyrene	increases expression	2
Cadmium	decreases expression, increases abundance, increases expression	2
Formaldehyde	increases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	decreases expression, affects cotreatment, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
lead acetate	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
butyraldehyde	increases expression	1
ferrous chloride	increases expression	1
cupric chloride	decreases expression	1
resorcinol	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression	1
licochalcone B	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7ZS	Ubigene A-549 RSRP1 KO	Cancer cell line	Male
CVCL_E0XE	Ubigene LN-229 RSRP1 KO	Cancer cell line	Female
CVCL_E1EL	Ubigene U-87 MG RSRP1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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