C1orf185

Summary

C1orf185 (chromosome 1 open reading frame 185, HGNC:28096) is a protein-coding gene on chromosome 1p32.3, encoding Uncharacterized protein C1orf185 (Q5T7R7).

Predicted to be located in membrane.

Source: NCBI Gene 284546 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001136508

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28096
Approved symbol	C1orf185
Name	chromosome 1 open reading frame 185
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ27485
Ensembl gene	ENSG00000204006
Ensembl biotype	protein_coding
OMIM	621135
Entrez	284546

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371759, ENST00000467127, ENST00000474016, ENST00000648827

RefSeq mRNA: 2 — MANE Select: NM_001136508 NM_001136508, NM_001410790

CCDS: CCDS44142, CCDS90951

Canonical transcript exons

ENST00000371759 — 5 exons

Exon	Start	End
ENSE00001456038	51147467	51148086
ENSE00001648415	51102228	51102249
ENSE00003300991	51145724	51145760
ENSE00003493952	51118666	51118801
ENSE00003645311	51112464	51112569

Expression profiles

Bgee: expression breadth broad, 47 present calls, max score 90.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0213 / max 22.5542, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2835	0.0112	3
2834	0.0101	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.11	gold quality
left testis	UBERON:0004533	86.25	gold quality
right testis	UBERON:0004534	86.03	gold quality
testis	UBERON:0000473	85.91	gold quality
stromal cell of endometrium	CL:0002255	43.90	gold quality
granulocyte	CL:0000094	43.64	silver quality
mucosa of stomach	UBERON:0001199	41.76	silver quality
gall bladder	UBERON:0002110	38.43	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
monocyte	CL:0000576	36.85	gold quality
leukocyte	CL:0000738	36.82	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
descending thoracic aorta	UBERON:0002345	35.64	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
endometrium	UBERON:0001295	34.89	silver quality
tonsil	UBERON:0002372	33.74	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
blood	UBERON:0000178	32.03	silver quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
liver	UBERON:0002107	30.45	gold quality
prefrontal cortex	UBERON:0000451	29.75	gold quality
right coronary artery	UBERON:0001625	29.68	silver quality
endocervix	UBERON:0000458	29.59	silver quality
thoracic mammary gland	UBERON:0005200	29.58	silver quality
calcaneal tendon	UBERON:0003701	29.56	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting C1orf185, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-7154-5P	99.69	70.52	1900

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930522H14Rik	ENSMUSG00000060491
rattus_norvegicus	C5h1orf185	ENSRNOG00000009138

Protein

Protein identifiers

Uncharacterized protein C1orf185 — Q5T7R7 (reviewed: Q5T7R7)

All UniProt accessions (3): A0A3B3ISR6, Q5T7R7, R4GMU4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001129980, NP_001397719 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031695	DUF4718	Family

Pfam: PF15842

UniProt features (2 total): chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T7R7-F1	62.85	0.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): MIR3133, MIR4755_5P, MIR5006_3P, MIR6508_5P, MIR4446_5P, MIR8067, MIR16_1_3P, MIR4777_5P, MIR1255A_MIR1255B_5P, DESCARTES_MAIN_FETAL_PDE1C_ACSM3_POSITIVE_CELLS, ARID3B_TARGET_GENES, NOTCH3_TARGET_GENES, GSE20366_CD103_KLRG1_DP_VS_DN_TREG_UP, GSE14413_UNSTIM_VS_IFNB_STIM_RAW264_CELLS_UP, GSE14413_UNSTIM_VS_IFNB_STIM_L929_CELLS_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

96 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf185	NUP210L	Q5VU65	511
C1orf185	MISFA	A0A0U1RRN3	445
C1orf185	SLC35E2A	P0CK97	445
C1orf185	CCT6B	Q92526	391
C1orf185	FAF1	Q9UNN5	373
C1orf185	ADAT1	Q9BUB4	367
C1orf185	TMEM269	A0A1B0GVZ9	347
C1orf185	CDK11A	Q9UQ88	305
C1orf185	CDK11B	P21127	299
C1orf185	PKDREJ	Q9NTG1	285
C1orf185	RNF11	Q9Y3C5	277
C1orf185	CDKN2C	P42773	275
C1orf185	CCT6A	P40227	269
C1orf185	TNNC1	P02590	262
C1orf185	KANSL1	Q7Z3B3	260

IntAct

0 interactions, top by confidence:

BioGRID (1): C1orf185 (Synthetic Lethality)

ESM2 similar proteins: A0A023PZB3, A0A182BSS2, A0A1B0GVD1, A0A3B7TNM4, B8QCG6, D3Z0R2, F4JYJ1, F5GUE5, H2A0P2, O32528, O56774, O62688, O62689, O62690, O94262, P0CV29, P0DMD1, P22388, P32772, P34290, P34507, P34566, P34890, P40745, P53074, P92560, Q00997, Q03233, Q03703, Q03937, Q09220, Q09280, Q09953, Q12418, Q19541, Q1KN19, Q1X6X8, Q3V0X1, Q54IV8, Q5I123

Diamond homologs: Q2M2T8, Q5T7R7, Q9CPZ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

8 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

736 predictions. Top by Δscore:

Variant	Effect	Δscore
1:51112495:T:A	acceptor_gain	1.0000
1:51112498:T:A	acceptor_gain	1.0000
1:51118665:GAGAA:G	acceptor_gain	1.0000
1:51118664:A:AG	acceptor_gain	0.9900
1:51118665:G:GG	acceptor_gain	0.9900
1:51118665:GA:G	acceptor_gain	0.9900
1:51117169:G:GG	donor_gain	0.9800
1:51117173:A:G	donor_gain	0.9800
1:51118659:TTTTC:T	acceptor_loss	0.9800
1:51118660:TTTCA:T	acceptor_loss	0.9800
1:51118661:TTCA:T	acceptor_loss	0.9800
1:51118662:TCA:T	acceptor_loss	0.9800
1:51118663:CAG:C	acceptor_gain	0.9800
1:51118664:AGA:A	acceptor_gain	0.9800
1:51118664:AGAGA:A	acceptor_loss	0.9800
1:51118665:GAG:G	acceptor_gain	0.9800
1:51118665:GAGA:G	acceptor_gain	0.9800
1:51147466:GCA:G	acceptor_gain	0.9800
1:51112449:AATTT:A	acceptor_loss	0.9700
1:51112458:GTATA:G	acceptor_loss	0.9700
1:51112459:TATAG:T	acceptor_loss	0.9700
1:51112460:ATAGG:A	acceptor_loss	0.9700
1:51112461:TA:T	acceptor_loss	0.9700
1:51112462:AGGT:A	acceptor_loss	0.9700
1:51117168:A:AG	donor_gain	0.9700
1:51118651:T:G	acceptor_loss	0.9700
1:51118656:T:G	acceptor_loss	0.9700
1:51129825:GCAC:G	donor_gain	0.9700
1:51147465:A:AG	acceptor_gain	0.9700
1:51147466:G:GG	acceptor_gain	0.9700

AlphaMissense

1302 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:51112521:G:A	G25D	0.977
1:51112520:G:C	G25R	0.976
1:51112547:T:A	W34R	0.975
1:51112547:T:C	W34R	0.975
1:51112530:C:A	A28D	0.971
1:51112514:G:A	G23R	0.968
1:51112514:G:C	G23R	0.968
1:51118775:T:C	F78L	0.964
1:51118777:T:A	F78L	0.964
1:51118777:T:G	F78L	0.964
1:51112550:T:C	F35L	0.949
1:51112552:C:A	F35L	0.949
1:51112552:C:G	F35L	0.949
1:51118760:T:C	F73L	0.947
1:51118762:T:A	F73L	0.947
1:51118762:T:G	F73L	0.947
1:51112536:C:A	A30E	0.944
1:51112515:G:A	G23E	0.933
1:51112564:A:C	K39N	0.931
1:51112564:A:T	K39N	0.931
1:51112554:T:C	L36P	0.928
1:51112506:T:A	V20D	0.925
1:51112499:G:C	G18R	0.923
1:51112500:G:A	G18D	0.922
1:51112566:G:C	R40P	0.915
1:51112542:C:A	A32D	0.913
1:51112503:C:A	A19D	0.910
1:51112494:C:A	A16D	0.905
1:51112497:C:A	A17D	0.896
1:51118776:T:C	F78S	0.896

dbSNP variants (sampled 300 via entrez): RS1000010766 (1:51139774 A>C,G), RS1000047459 (1:51147196 A>C), RS1000103641 (1:51127787 G>A), RS1000144143 (1:51140229 T>C), RS1000147705 (1:51140124 A>T), RS1000275168 (1:51116244 A>G), RS1000313902 (1:51146827 C>G), RS1000334996 (1:51122426 T>G), RS1000391448 (1:51116557 G>A,T), RS1000480787 (1:51138828 C>T), RS1000523837 (1:51134781 T>A), RS1000560908 (1:51121791 C>T), RS1000577200 (1:51122907 C>T), RS1000687588 (1:51102187 T>C), RS1000761917 (1:51132266 A>G)

Disease associations

OMIM: gene MIM:621135 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000872_3	QRS duration	3.000000e-10
GCST003263_2	Post bronchodilator FEV1 in COPD	7.000000e-07
GCST003263_45	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_46	Post bronchodilator FEV1 in COPD	5.000000e-06
GCST003263_85	Post bronchodilator FEV1 in COPD	2.000000e-06
GCST003263_86	Post bronchodilator FEV1 in COPD	5.000000e-06
GCST006061_137	Atrial fibrillation	2.000000e-10
GCST006061_138	Atrial fibrillation	2.000000e-10
GCST006661_54	Male-pattern baldness	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Fulvestrant	increases methylation	1
Benzo(a)pyrene	increases methylation	1
Smoke	increases expression	1

Clinical trials (associated diseases)

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