OSER1

Summary

OSER1 (oxidative stress responsive serine rich 1, HGNC:16105) is a protein-coding gene on chromosome 20q13.12, encoding Oxidative stress-responsive serine-rich protein 1 (Q9NX31).

Predicted to be involved in cellular response to hydrogen peroxide. Located in nucleus.

Source: NCBI Gene 51526 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_016470

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16105
Approved symbol	OSER1
Name	oxidative stress responsive serine rich 1
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	dJ1183I21.1, HSPC207, Perit1, Osr1
Ensembl gene	ENSG00000132823
Ensembl biotype	protein_coding
OMIM	621330
Entrez	51526

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 18 protein_coding

ENST00000255174, ENST00000372970, ENST00000882655, ENST00000882656, ENST00000882657, ENST00000882658, ENST00000922936, ENST00000922937, ENST00000922938, ENST00000922939, ENST00000922940, ENST00000922941, ENST00000950396, ENST00000950397, ENST00000950398, ENST00000950399, ENST00000950400, ENST00000950401

RefSeq mRNA: 1 — MANE Select: NM_016470 NM_016470

CCDS: CCDS13327

Canonical transcript exons

ENST00000255174 — 4 exons

Exon	Start	End
ENSE00000906876	44202961	44203074
ENSE00000906877	44206881	44206998
ENSE00001126773	44210696	44210771
ENSE00003846164	44195939	44197739

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 97.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.2156 / max 693.1105, expressed in 1815 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187326	25.0591	1809
187325	1.9454	1057
187321	1.2401	626
187324	0.9530	488
187323	0.9030	472
187320	0.4941	138
187322	0.3219	147
209119	0.2398	101
187327	0.0592	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.47	gold quality
right testis	UBERON:0004534	97.25	gold quality
sperm	CL:0000019	96.71	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.06	gold quality
testis	UBERON:0000473	95.98	gold quality
gastrocnemius	UBERON:0001388	95.84	gold quality
muscle of leg	UBERON:0001383	95.51	gold quality
buccal mucosa cell	CL:0002336	95.24	gold quality
lower esophagus mucosa	UBERON:0035834	94.90	gold quality
male germ cell	CL:0000015	94.81	gold quality
mucosa of stomach	UBERON:0001199	94.60	gold quality
popliteal artery	UBERON:0002250	94.40	gold quality
tibial artery	UBERON:0007610	94.40	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.19	gold quality
lower esophagus	UBERON:0013473	94.18	gold quality
skin of leg	UBERON:0001511	94.06	gold quality
skin of abdomen	UBERON:0001416	93.99	gold quality
artery	UBERON:0001637	93.83	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.75	gold quality
muscle organ	UBERON:0001630	93.73	gold quality
skeletal muscle organ	UBERON:0014892	93.73	gold quality
descending thoracic aorta	UBERON:0002345	93.60	gold quality
aorta	UBERON:0000947	93.56	gold quality
amniotic fluid	UBERON:0000173	93.45	gold quality
right lung	UBERON:0002167	93.13	gold quality
blood	UBERON:0000178	93.04	gold quality
esophagus	UBERON:0001043	93.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.74	gold quality
ascending aorta	UBERON:0001496	92.67	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	654.69
E-GEOD-93593	yes	6.92
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting OSER1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	oser1	ENSDARG00000024669
mus_musculus	Oser1	ENSMUSG00000035399
rattus_norvegicus	Oser1	ENSRNOG00000008297
drosophila_melanogaster	CG5056	FBGN0032231
caenorhabditis_elegans	F02E9.5	WBGENE00008530

Protein

Protein identifiers

Oxidative stress-responsive serine-rich protein 1 — Q9NX31 (reviewed: Q9NX31)

Alternative names: Oxidative stress-responsive protein 1, Peroxide-inducible transcript 1 protein

All UniProt accessions (1): Q9NX31

RefSeq proteins (1): NP_057554* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008494	DUF776	Family

Pfam: PF05604

UniProt features (6 total): modified residue 2, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NX31-F1	58.65	0.01

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 (2): 143, 233

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 490 (showing top): ATF_B, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_URETER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, GOBP_METANEPHROS_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_CARTILAGE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT

GO Biological Process (1): cellular response to hydrogen peroxide (GO:0070301)

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
cellular response to reactive oxygen species	1
response to hydrogen peroxide	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

354 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSER1	CIMIP6	Q8N5S3	474
OSER1	LRRC66	Q68CR7	393
OSER1	GOLT1B	Q9Y3E0	385
OSER1	URAD	A6NGE7	379
OSER1	SLC35B1	P78383	379
OSER1	BRD10	Q5HYC2	370
OSER1	ATXN1L	P0C7T5	362
OSER1	C1orf174	Q8IYL3	354
OSER1	SLC5A9	Q2M3M2	352
OSER1	CSRNP2	Q9H175	348
OSER1	TTC19	Q6DKK2	346
OSER1	AP4E1	Q9UPM8	338
OSER1	MYO19	Q96H55	330
OSER1	DEFB124	Q8NES8	324
OSER1	HAGHL	Q6PII5	322

IntAct

18 interactions, top by confidence:

A	B	Type	Score
PSMB3	PSMD11	psi-mi:“MI:0914”(association)	0.640
OSER1	LACC1	psi-mi:“MI:0914”(association)	0.620
OSER1	LACC1	psi-mi:“MI:0915”(physical association)	0.620
PSMB9	PSMD11	psi-mi:“MI:0914”(association)	0.530
TRMT13	STAG1	psi-mi:“MI:0914”(association)	0.530
LACC1	CKS2	psi-mi:“MI:0914”(association)	0.530
OSER1	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
OSER1	POTEI	psi-mi:“MI:0915”(physical association)	0.400
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
NCR1	OSER1	psi-mi:“MI:0914”(association)	0.350
OSER1		psi-mi:“MI:0915”(physical association)	0.000
OSER1	pyrC	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): OSER1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), LACC1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), TSR3 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), OSER1 (Proximity Label-MS), OSER1 (Affinity Capture-RNA), LACC1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1

Diamond homologs: Q5E9A0, Q5RD08, Q703I1, Q9D722, Q9NX31

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1215 predictions. Top by Δscore:

Variant	Effect	Δscore
20:44197738:ACCTA:A	acceptor_loss	1.0000
20:44197740:C:CC	acceptor_gain	1.0000
20:44197741:T:A	acceptor_loss	1.0000
20:44202959:AC:A	donor_gain	1.0000
20:44202960:CC:C	donor_gain	1.0000
20:44206879:AC:A	donor_gain	1.0000
20:44206880:CC:C	donor_gain	1.0000
20:44206997:CA:C	acceptor_gain	1.0000
20:44206999:C:CC	acceptor_gain	1.0000
2:19353835:GATC:G	acceptor_loss	1.0000
2:19353836:ATC:A	acceptor_loss	1.0000
2:19353838:C:CC	acceptor_gain	1.0000
2:19353838:C:CG	acceptor_loss	1.0000
2:19353839:T:A	acceptor_loss	1.0000
20:44197735:TAGAC:T	acceptor_gain	0.9900
20:44197737:GAC:G	acceptor_gain	0.9900
20:44197738:AC:A	acceptor_gain	0.9900
20:44197739:CC:C	acceptor_gain	0.9900
20:44202954:CTCTT:C	donor_loss	0.9900
20:44202955:TCTTA:T	donor_loss	0.9900
20:44202956:CTTAC:C	donor_loss	0.9900
20:44202957:TTAC:T	donor_loss	0.9900
20:44202958:T:TA	donor_loss	0.9900
20:44202959:A:AA	donor_loss	0.9900
20:44203070:CAGAC:C	acceptor_gain	0.9900
20:44203074:CCT:C	acceptor_loss	0.9900
20:44203075:C:CA	acceptor_loss	0.9900
20:44203076:T:G	acceptor_loss	0.9900
20:44203531:A:AC	donor_gain	0.9900
20:44206867:A:AC	donor_gain	0.9900

AlphaMissense

1886 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:44197062:A:G	M290T	1.000
20:44197065:A:G	M289T	1.000
20:44197083:A:G	M283T	1.000
20:44197125:A:G	L269P	1.000
20:44197060:A:G	Y291H	0.999
20:44197061:C:A	M290I	0.999
20:44197061:C:G	M290I	0.999
20:44197061:C:T	M290I	0.999
20:44197062:A:C	M290R	0.999
20:44197062:A:T	M290K	0.999
20:44197064:C:A	M289I	0.999
20:44197064:C:G	M289I	0.999
20:44197064:C:T	M289I	0.999
20:44197065:A:C	M289R	0.999
20:44197067:T:A	E288D	0.999
20:44197067:T:G	E288D	0.999
20:44197072:C:G	A287P	0.999
20:44197073:C:A	M286I	0.999
20:44197073:C:G	M286I	0.999
20:44197073:C:T	M286I	0.999
20:44197074:A:G	M286T	0.999
20:44197080:G:A	S284F	0.999
20:44197082:C:A	M283I	0.999
20:44197082:C:G	M283I	0.999
20:44197082:C:T	M283I	0.999
20:44197083:A:C	M283R	0.999
20:44197088:C:A	K281N	0.999
20:44197088:C:G	K281N	0.999
20:44197092:G:T	P280H	0.999
20:44197093:G:A	P280S	0.999

dbSNP variants (sampled 300 via entrez): RS1000369003 (20:44209140 T>C), RS1000611942 (20:44210251 T>C), RS1000681052 (20:44210380 G>A), RS1000681883 (20:44208945 C>A), RS1000899775 (20:44210400 G>A), RS1001074620 (20:44204656 C>A,G), RS1001129704 (20:44198866 C>A,T), RS1001502084 (20:44209826 A>G), RS1001668629 (20:44209664 T>C,G), RS1001701230 (20:44203703 C>A), RS1001807831 (20:44210626 C>A,G,T), RS1001839146 (20:44210730 C>A,G,T), RS1002069310 (20:44205226 T>C,G), RS1002132062 (20:44203978 G>T), RS1002258730 (20:44198985 G>A)

Disease associations

OMIM: gene MIM:621330 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002595_20	Clozapine-induced agranulocytosis	6.000000e-06
GCST004608_145	Granulocyte percentage of myeloid white cells	2.000000e-20
GCST90002393_458	Monocyte count	3.000000e-13
GCST90002394_578	Monocyte percentage of white cells	2.000000e-16
GCST90002396_58	Mean reticulocyte volume	4.000000e-11
GCST90002397_280	Mean spheric corpuscular volume	2.000000e-11
GCST90002401_322	Platelet distribution width	8.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression	3
Cyclosporine	increases expression	3
sodium arsenite	decreases expression, increases expression	2
cobaltous chloride	increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
GSK-J4	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
deoxynivalenol	increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
celastrol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	increases expression	1
gedunin	increases expression	1
K 7174	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
abrine	increases expression	1
elesclomol	decreases reaction, increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
licochalcone B	increases expression	1
NSC 689534	affects binding, increases expression	1
PCI 5002	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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