C1orf167

Summary

C1orf167 (chromosome 1 open reading frame 167, HGNC:25262) is a protein-coding gene on chromosome 1p36.22, encoding Uncharacterized protein C1orf167 (Q5SNV9).

Implicated in coronary artery disease.

Source: NCBI Gene 284498 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001010881

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25262
Approved symbol	C1orf167
Name	chromosome 1 open reading frame 167
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434E1410, RP11-56N19.2
Ensembl gene	ENSG00000215910
Ensembl biotype	protein_coding
Entrez	284498

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000312793, ENST00000433342, ENST00000444493, ENST00000449278, ENST00000475041, ENST00000482358, ENST00000484153, ENST00000688073

RefSeq mRNA: 1 — MANE Select: NM_001010881 NM_001010881

CCDS: CCDS90862

Canonical transcript exons

ENST00000688073 — 21 exons

Exon	Start	End
ENSE00001231239	11788149	11788378
ENSE00001231246	11787873	11788047
ENSE00001231251	11787388	11787493
ENSE00001231256	11785148	11785289
ENSE00001231262	11784174	11784593
ENSE00001231269	11782189	11782333
ENSE00001231277	11779802	11780010
ENSE00001296243	11778660	11778816
ENSE00001309538	11778926	11779080
ENSE00003461086	11771524	11771636
ENSE00003471227	11776464	11776638
ENSE00003497760	11775435	11775610
ENSE00003538594	11767221	11767264
ENSE00003560834	11788652	11788746
ENSE00003606707	11789270	11789585
ENSE00003686655	11772082	11772259
ENSE00003925917	11768077	11768275
ENSE00003926709	11768973	11769127
ENSE00003931429	11762193	11762305
ENSE00003932366	11765857	11767085
ENSE00003938574	11764331	11764470

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 89.16.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4227 / max 47.3639, expressed in 180 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
645	0.3434	159
643	0.0662	15
642	0.0113	6
644	0.0018	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	89.16	gold quality
right testis	UBERON:0004534	88.67	gold quality
testis	UBERON:0000473	84.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	78.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.19	gold quality
apex of heart	UBERON:0002098	70.65	gold quality
upper lobe of left lung	UBERON:0008952	70.48	gold quality
muscle of leg	UBERON:0001383	69.75	gold quality
gastrocnemius	UBERON:0001388	69.31	gold quality
upper lobe of lung	UBERON:0008948	68.25	gold quality
heart left ventricle	UBERON:0002084	66.95	gold quality
cardiac ventricle	UBERON:0002082	66.05	gold quality
right adrenal gland	UBERON:0001233	64.46	gold quality
right adrenal gland cortex	UBERON:0035827	64.40	gold quality
tibial nerve	UBERON:0001323	64.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	63.85	gold quality
popliteal artery	UBERON:0002250	63.75	gold quality
tibial artery	UBERON:0007610	63.73	gold quality
descending thoracic aorta	UBERON:0002345	63.68	gold quality
right coronary artery	UBERON:0001625	63.19	gold quality
mucosa of transverse colon	UBERON:0004991	63.12	gold quality
skin of hip	UBERON:0001554	62.80	silver quality
heart	UBERON:0000948	62.43	gold quality
left adrenal gland	UBERON:0001234	61.89	gold quality
left adrenal gland cortex	UBERON:0035825	61.45	gold quality
sural nerve	UBERON:0015488	61.41	gold quality
aorta	UBERON:0000947	61.06	gold quality
upper leg skin	UBERON:0004262	61.00	gold quality
ventricular zone	UBERON:0003053	60.72	gold quality
adrenal cortex	UBERON:0001235	60.54	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	3.56
E-ANND-3	no	2.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting C1orf167, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-4308	97.56	67.13	1385

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein C1orf167 — Q5SNV9 (reviewed: Q5SNV9)

All UniProt accessions (5): Q5SNV9, A0AAG2QDU5, H0Y5F2, H0Y5L4, H7BXQ2

Isoforms (3)

UniProt ID	Names	Canonical?
Q5SNV9-1	1	yes
Q5SNV9-2	2
Q5SNV9-3	3

RefSeq proteins (1): NP_001010881* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031473	DUF4684	Family

Pfam: PF15736

UniProt features (32 total): sequence variant 11, region of interest 7, compositionally biased region 7, splice variant 6, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SNV9-F1	48.89	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): chr1p36, HMGA1_TARGET_GENES, NFKBIA_TARGET_GENES, SUPT16H_TARGET_GENES, ZNF274_TARGET_GENES, ZNF768_TARGET_GENES, MIR6791_5P, MIR4292, MIR3151_5P, DESCARTES_MAIN_FETAL_SKELETAL_MUSCLE_CELLS, ADNP_TARGET_GENES, GSE26495_PD1HIGH_VS_PD1LOW_CD8_TCELL_UP, GSE29614_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_DN, GSE29614_DAY3_VS_DAY7_TIV_FLU_VACCINE_PBMC_UP, ZHANG_FH_DEFICIENT_RCC_C2_VS_OTHERS_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf167	OR5C1	Q8NGR4	692
C1orf167	OR4X1	Q8NH49	603
C1orf167	KIAA0825	Q8IV33	597
C1orf167	NBPF9	P0DPF3	595
C1orf167	C3orf22	Q8N5N4	591
C1orf167	RNASE12	Q5GAN4	570
C1orf167	C12orf56	Q8IXR9	544
C1orf167	SMIM17	P0DL12	540
C1orf167	SH2D7	A6NKC9	507
C1orf167	C22orf42	Q6IC83	507
C1orf167	CC2D2B	Q6DHV5	507
C1orf167	ANKRD62	A6NC57	507
C1orf167	SPDYE4	A6NLX3	505
C1orf167	PRSS54	Q6PEW0	479
C1orf167	CLPSL1	A2RUU4	479

IntAct

3 interactions, top by confidence:

A	B	Type	Score
METTL3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): C1orf167 (Affinity Capture-MS), C1orf167 (Affinity Capture-MS), C1orf167 (Affinity Capture-RNA), C1orf167 (Affinity Capture-MS), C1orf167 (Affinity Capture-MS), C1orf167 (Affinity Capture-MS), EEA1 (Cross-Linking-MS (XL-MS)), C1orf167 (Affinity Capture-MS), C1orf167 (Affinity Capture-MS)

ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A5D8V7, A5PK16, A6QP29, A7E3N7, A8K8P3, A9CB34, B0KWR6, B5DFA1, D3ZI76, G3HQ82, O73770, P0C7M6, P41002, Q14129, Q14DK4, Q15051, Q3SYS7, Q3UK37, Q3UZY0, Q5SNV9, Q5SXM2, Q60953, Q60I26, Q60I27, Q69ZT1, Q6NUI2, Q8BP00, Q8BP86, Q8C1F5, Q8C2K1, Q8CJ00, Q8IV45, Q8NCU4, Q8NE28, Q8NEE8, Q8TE82, Q95KD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4091 predictions. Top by Δscore:

Variant	Effect	Δscore
1:11762123:G:GT	donor_gain	1.0000
1:11772080:A:AG	acceptor_gain	1.0000
1:11772081:G:GA	acceptor_gain	1.0000
1:11772081:GT:G	acceptor_gain	1.0000
1:11772169:G:GT	donor_gain	1.0000
1:11775424:T:TA	acceptor_gain	1.0000
1:11775433:A:AG	acceptor_gain	1.0000
1:11775433:AG:A	acceptor_gain	1.0000
1:11775433:AGGT:A	acceptor_gain	1.0000
1:11775434:G:GA	acceptor_gain	1.0000
1:11775434:GG:G	acceptor_gain	1.0000
1:11775434:GGT:G	acceptor_gain	1.0000
1:11775434:GGTG:G	acceptor_gain	1.0000
1:11775434:GGTGC:G	acceptor_gain	1.0000
1:11775607:GCAG:G	donor_gain	1.0000
1:11775610:GG:G	donor_loss	1.0000
1:11775611:G:C	donor_loss	1.0000
1:11775611:G:GG	donor_gain	1.0000
1:11775612:T:G	donor_loss	1.0000
1:11776639:G:GG	donor_gain	1.0000
1:11778659:GCTCC:G	acceptor_gain	1.0000
1:11778816:GGTGA:G	donor_loss	1.0000
1:11778818:T:A	donor_loss	1.0000
1:11787492:GA:G	donor_gain	1.0000
1:11787494:G:GG	donor_gain	1.0000
1:11761857:GCA:G	donor_gain	0.9900
1:11762122:GGAC:G	donor_gain	0.9900
1:11762330:G:GT	donor_gain	0.9900
1:11762331:A:T	donor_gain	0.9900
1:11762367:G:T	donor_gain	0.9900

AlphaMissense

9262 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:11775439:T:C	F689L	0.937
1:11775441:C:A	F689L	0.937
1:11775441:C:G	F689L	0.937
1:11768099:T:C	F517L	0.934
1:11768101:T:A	F517L	0.934
1:11768101:T:G	F517L	0.934
1:11775537:G:C	W721C	0.933
1:11775537:G:T	W721C	0.933
1:11766138:T:C	F308L	0.930
1:11766140:T:A	F308L	0.930
1:11766140:T:G	F308L	0.930
1:11764430:G:C	K196N	0.924
1:11764430:G:T	K196N	0.924
1:11768267:T:C	F573L	0.920
1:11768269:C:A	F573L	0.920
1:11768269:C:G	F573L	0.920
1:11784178:T:C	F1028L	0.916
1:11784180:C:A	F1028L	0.916
1:11784180:C:G	F1028L	0.916
1:11784238:T:C	F1048L	0.914
1:11784240:T:A	F1048L	0.914
1:11784240:T:G	F1048L	0.914
1:11768110:G:C	W520C	0.911
1:11768110:G:T	W520C	0.911
1:11772084:T:C	F629L	0.905
1:11772086:C:A	F629L	0.905
1:11772086:C:G	F629L	0.905
1:11779994:G:C	W972C	0.904
1:11779994:G:T	W972C	0.904
1:11787902:T:C	F1259L	0.903

dbSNP variants (sampled 300 via entrez): RS1000148389 (1:11776113 C>T), RS1000164983 (1:11782719 G>A), RS1000222865 (1:11775346 T>G), RS1000347359 (1:11785349 C>T), RS1000393582 (1:11786723 C>A,T), RS1000439631 (1:11776306 G>A), RS1000460504 (1:11780771 A>G), RS1000610447 (1:11785668 C>A), RS1000680496 (1:11787086 G>A), RS1000767098 (1:11781522 C>G,T), RS1000844607 (1:11764871 G>A), RS1001006000 (1:11770553 C>T), RS1001020751 (1:11765383 C>A,T), RS1001128797 (1:11785452 G>A), RS1001202687 (1:11781695 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:236250

GenCC curated gene-disease

Mondo (1): homocystinuria due to methylene tetrahydrofolate reductase deficiency (MONDO:0009353)

Orphanet (1): Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003880_4	Schizophrenia	2.000000e-07
GCST005207_2	Midregional pro atrial natriuretic peptide levels	3.000000e-09
GCST006166_107	Diastolic blood pressure x alcohol consumption interaction (2df test)	7.000000e-17
GCST006168_54	Pulse pressure x alcohol consumption interaction (2df test)	1.000000e-13
GCST006434_12	Systolic blood pressure x alcohol consumption interaction (2df test)	4.000000e-44
GCST006434_73	Systolic blood pressure x alcohol consumption interaction (2df test)	1.000000e-45
GCST006613_42	Triglycerides	2.000000e-08
GCST007268_76	Diastolic blood pressure	1.000000e-11
GCST90020026_528	Hip index	2.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0008468	midregional pro atrial natriuretic peptide measurement
EFO:0004329	alcohol drinking
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004530	triglyceride measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537357	Methylenetetrahydrofolate reductase deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1801131	C1orf167, CLCN6, MTHFR	3	4.75	11	methotrexate;nitrous oxide;bevacizumab;carboplatin;cisplatin;cyanocobalamin;folic acid;pemetrexed;capecitabine;fluorouracil;leucovorin;oxaliplatin;clozapine;olanzapine;l-methylfolate;Vitamin B-complex;Incl. Combinations
rs3737967	C1orf167, MTHFR		0.00	0

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment	2
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	increases expression, affects cotreatment	1
Indomethacin	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns