C1orf198

Summary

C1orf198 (chromosome 1 open reading frame 198, HGNC:25900) is a protein-coding gene on chromosome 1q42.2, encoding Uncharacterized protein C1orf198 (Q9H425).

Located in cytosol.

Source: NCBI Gene 84886 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_032800

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25900
Approved symbol	C1orf198
Name	chromosome 1 open reading frame 198
Location	1q42.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847
Ensembl gene	ENSG00000119280
Ensembl biotype	protein_coding
Entrez	84886

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000366663, ENST00000427697, ENST00000470540, ENST00000519360, ENST00000521263, ENST00000522201, ENST00000523410, ENST00000904028

RefSeq mRNA: 3 — MANE Select: NM_032800 NM_001136494, NM_001136495, NM_032800

CCDS: CCDS1587, CCDS44330, CCDS44331

Canonical transcript exons

ENST00000366663 — 4 exons

Exon	Start	End
ENSE00001442275	230868180	230868521
ENSE00001826466	230837119	230839908
ENSE00003489748	230843354	230843896
ENSE00003570290	230855668	230855718

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.0298 / max 1628.2246, expressed in 1752 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17963	26.3332	1746
17956	1.2942	524
17967	1.1853	353
17957	0.5718	259
17958	0.4778	173
17959	0.4107	136
17964	0.3080	128
17955	0.1814	56
17965	0.1200	53
17966	0.0897	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	98.38	gold quality
tibialis anterior	UBERON:0001385	98.22	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.89	gold quality
spinal cord	UBERON:0002240	97.87	gold quality
upper arm skin	UBERON:0004263	97.51	gold quality
sural nerve	UBERON:0015488	97.28	gold quality
left ventricle myocardium	UBERON:0006566	97.25	gold quality
right coronary artery	UBERON:0001625	97.18	gold quality
inferior vagus X ganglion	UBERON:0005363	97.05	gold quality
popliteal artery	UBERON:0002250	96.80	gold quality
tibial artery	UBERON:0007610	96.80	gold quality
ascending aorta	UBERON:0001496	96.72	gold quality
aorta	UBERON:0000947	96.71	gold quality
thoracic aorta	UBERON:0001515	96.62	gold quality
adult organism	UBERON:0007023	96.60	gold quality
subthalamic nucleus	UBERON:0001906	96.40	gold quality
lower lobe of lung	UBERON:0008949	96.33	gold quality
corpus callosum	UBERON:0002336	96.32	gold quality
saphenous vein	UBERON:0007318	96.17	gold quality
tibial nerve	UBERON:0001323	95.99	gold quality
cartilage tissue	UBERON:0002418	95.93	gold quality
medulla oblongata	UBERON:0001896	95.92	gold quality
right lung	UBERON:0002167	95.81	gold quality
vena cava	UBERON:0004087	95.80	gold quality
substantia nigra	UBERON:0002038	95.77	gold quality
coronary artery	UBERON:0001621	95.74	gold quality
left coronary artery	UBERON:0001626	95.69	gold quality
midbrain	UBERON:0001891	95.67	gold quality
globus pallidus	UBERON:0001875	95.66	gold quality
medial globus pallidus	UBERON:0002477	95.52	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.49
E-GEOD-124858	no	1840.75
E-ENAD-20	no	607.85
E-MTAB-6075	no	508.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

119 targeting C1orf198, 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-3163	100.00	77.23	8605
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4694-3P	99.79	69.53	2640

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C20H1orf198	ENSDARG00000043842
mus_musculus	2310022B05Rik	ENSMUSG00000031983
rattus_norvegicus	C19h1orf198	ENSRNOG00000018836

Protein

Protein identifiers

Uncharacterized protein C1orf198 — Q9H425 (reviewed: Q9H425)

All UniProt accessions (3): Q9H425, E5RFY9, E5RI90

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H425-1	1	yes
Q9H425-2	2
Q9H425-3	3

RefSeq proteins (3): NP_001129966, NP_001129967, NP_116189* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031600	DUF4706	Domain

Pfam: PF15797

UniProt features (20 total): modified residue 5, compositionally biased region 5, region of interest 3, splice variant 2, sequence variant 2, initiator methionine 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H425-F1	60.91	0.14

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): 2, 37, 129, 175, 289

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 104 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GCM_MAP4K4, AAGCCAT_MIR135A_MIR135B, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, AACTTT_UNKNOWN, AML1_01, GCM_PTK2, GCM_SIRT2, NUYTTEN_EZH2_TARGETS_DN, ZHENG_GLIOBLASTOMA_PLASTICITY_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, OLSSON_E2F3_TARGETS_UP, GCM_IL6ST, CHYLA_CBFA2T3_TARGETS_DN, KOHOUTEK_CCNT2_TARGETS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1299 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf198	LGALSL	Q3ZCW2	571
C1orf198	OR52A1	Q9UKL2	571
C1orf198	CST2	P09228	493
C1orf198	FOXS1	O43638	480
C1orf198	LAMP5	Q9UJQ1	474
C1orf198	INSL5	Q9Y5Q6	435
C1orf198	ZBED11	P0CF97	432
C1orf198	ANKRD45	Q5TZF3	407
C1orf198	GOLGA6L10	A6NI86	396
C1orf198	OR5P2	Q8WZ92	395
C1orf198	CASKIN2	Q8WXE0	392
C1orf198	CLINT1	Q14677	389
C1orf198	CHSY3	Q70JA7	380
C1orf198	HEG1	Q9ULI3	371
C1orf198	FAM78B	Q5VT40	365

IntAct

61 interactions, top by confidence:

A	B	Type	Score
RHOA	CTSA	psi-mi:“MI:0914”(association)	0.730
RHOC	RAP1GDS1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RHOD	PLXNB2	psi-mi:“MI:0914”(association)	0.640
FGL1	LCMT2	psi-mi:“MI:0914”(association)	0.640
RHOC	ARHGEF11	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
C1orf198	INPPL1	psi-mi:“MI:0914”(association)	0.530
SERPINB13	TTC4	psi-mi:“MI:0914”(association)	0.530
CEP170P1	PCYT1A	psi-mi:“MI:0914”(association)	0.350
Tecpr2	PUF60	psi-mi:“MI:0914”(association)	0.350
Sart1	PRPF4	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SERPINB13	TTC4	psi-mi:“MI:0914”(association)	0.350
FGL1	DNM1L	psi-mi:“MI:0914”(association)	0.350
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.350
RHOA	TAX1BP3	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (112): C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Proximity Label-MS), C1orf198 (Proximity Label-MS), C1orf198 (Proximity Label-MS), C1orf198 (Proximity Label-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Proximity Label-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTI1, A2BIL8, A5PKK9, C5DY61, E2QSX5, E7F555, O35147, O43151, P11805, P19416, P24940, P27579, Q06616, Q17QE3, Q1LZE2, Q1RMQ5, Q1T763, Q28CW2, Q2HR82, Q2TBN9, Q3B8E9, Q3ZBS1, Q567C6, Q5RDK8, Q62417, Q68FW2, Q6AY26, Q6DFB0, Q6P6I6, Q6PKN7, Q80U49, Q86YL5, Q8C3W1, Q8QVM1, Q8VEB3, Q8VI59, Q96FT9, Q96GV9, Q96GY3, Q99618

Diamond homologs: Q4KMC9, Q58CU6, Q8C3W1, Q9H425

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

823 predictions. Top by Δscore:

Variant	Effect	Δscore
1:230843349:CTCA:C	donor_loss	1.0000
1:230843350:TCA:T	donor_loss	1.0000
1:230843351:CACC:C	donor_loss	1.0000
1:230843353:C:A	donor_loss	1.0000
1:230855663:CTTA:C	donor_loss	1.0000
1:230855664:TTA:T	donor_loss	1.0000
1:230855665:TA:T	donor_loss	1.0000
1:230855666:A:AC	donor_gain	1.0000
1:230855667:C:CC	donor_gain	1.0000
1:230866544:T:TA	donor_gain	1.0000
1:230839910:T:G	acceptor_loss	0.9900
1:230843352:A:AC	donor_gain	0.9900
1:230843353:C:CC	donor_gain	0.9900
1:230843909:A:C	acceptor_gain	0.9900
1:230855667:CCT:C	donor_gain	0.9900
1:230855717:TC:T	acceptor_gain	0.9900
1:230855718:CC:C	acceptor_gain	0.9900
1:230857456:T:TA	donor_gain	0.9900
1:230857457:C:A	donor_gain	0.9900
1:230866532:TGGCC:T	donor_gain	0.9900
1:230868176:CTAC:C	donor_loss	0.9900
1:230868177:TAC:T	donor_loss	0.9900
1:230839909:C:CC	acceptor_gain	0.9800
1:230843353:CCT:C	donor_gain	0.9800
1:230855666:AC:A	donor_gain	0.9800
1:230855667:CC:C	donor_gain	0.9800
1:230855716:ATCC:A	acceptor_loss	0.9800
1:230855717:TCC:T	acceptor_loss	0.9800
1:230855718:CCTGA:C	acceptor_loss	0.9800
1:230855719:C:CA	acceptor_loss	0.9800

AlphaMissense

2137 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:230855709:A:G	W115R	1.000
1:230855709:A:T	W115R	1.000
1:230868339:C:A	W58C	1.000
1:230868339:C:G	W58C	1.000
1:230839855:C:A	W327C	0.999
1:230839855:C:G	W327C	0.999
1:230839857:A:G	W327R	0.999
1:230839857:A:T	W327R	0.999
1:230839867:A:C	F323L	0.999
1:230839867:A:T	F323L	0.999
1:230839868:A:G	F323S	0.999
1:230839869:A:G	F323L	0.999
1:230839873:A:C	F321L	0.999
1:230839873:A:T	F321L	0.999
1:230839875:A:G	F321L	0.999
1:230855679:A:G	W125R	0.999
1:230855679:A:T	W125R	0.999
1:230855683:G:C	F123L	0.999
1:230855683:G:T	F123L	0.999
1:230855684:A:G	F123S	0.999
1:230855685:A:G	F123L	0.999
1:230855695:G:C	H119Q	0.999
1:230855695:G:T	H119Q	0.999
1:230855703:C:G	D117H	0.999
1:230855707:C:A	W115C	0.999
1:230855707:C:G	W115C	0.999
1:230868341:A:G	W58R	0.999
1:230868341:A:T	W58R	0.999
1:230868385:A:C	I43S	0.999
1:230868385:A:G	I43T	0.999

dbSNP variants (sampled 300 via entrez): RS1000014350 (1:230843510 G>A), RS1000142644 (1:230857965 T>A,C), RS1000237614 (1:230863610 C>A), RS1000376690 (1:230851460 G>A), RS1000400867 (1:230847632 G>A), RS1000425976 (1:230851227 C>T), RS1000431864 (1:230847997 C>T), RS1000607280 (1:230851559 G>A), RS1000627919 (1:230857698 C>T), RS1000675745 (1:230841001 T>C), RS1000686614 (1:230863291 G>A,T), RS1000736577 (1:230846044 T>C), RS1000743656 (1:230842223 A>C), RS1000868632 (1:230864050 A>G), RS1000927373 (1:230846689 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006427_2	Depression in smokers	5.000000e-07
GCST008359_10	Response to cognitive-behavioural therapy in anxiety disorder	8.000000e-06
GCST009030_29	Venous thromboembolism	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression	2
Valproic Acid	decreases expression, increases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
manganese chloride	increases abundance, increases expression	1
nickel sulfate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	decreases 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
Dasatinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	increases expression	1
Manganese	increases abundance, increases expression	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Thiram	increases expression	1
Vanadates	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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