C1orf216

Summary

C1orf216 (chromosome 1 open reading frame 216, HGNC:26800) is a protein-coding gene on chromosome 1p34.3, encoding UPF0500 protein C1orf216 (Q8TAB5).

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_152374

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26800
Approved symbol	C1orf216
Name	chromosome 1 open reading frame 216
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38984
Ensembl gene	ENSG00000142686
Ensembl biotype	protein_coding
Entrez	127703

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000270815, ENST00000453178, ENST00000503824, ENST00000856968, ENST00000856969, ENST00000856970, ENST00000957928

RefSeq mRNA: 2 — MANE Select: NM_152374 NM_001348691, NM_152374

CCDS: CCDS395

Canonical transcript exons

ENST00000270815 — 2 exons

Exon	Start	End
ENSE00000955864	35718707	35718884
ENSE00001202162	35713877	35716326

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 96.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2372 / max 109.8568, expressed in 1696 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11692	7.0467	1675
11691	1.1113	620
11690	0.0793	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	96.45	gold quality
prefrontal cortex	UBERON:0000451	96.30	gold quality
cortical plate	UBERON:0005343	96.19	gold quality
endothelial cell	CL:0000115	95.91	gold quality
pons	UBERON:0000988	95.88	gold quality
frontal cortex	UBERON:0001870	95.60	gold quality
right frontal lobe	UBERON:0002810	95.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.28	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.20	gold quality
neocortex	UBERON:0001950	94.93	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.58	gold quality
cerebral cortex	UBERON:0000956	94.48	gold quality
superior frontal gyrus	UBERON:0002661	94.40	gold quality
superior vestibular nucleus	UBERON:0007227	94.11	gold quality
cingulate cortex	UBERON:0003027	93.70	gold quality
primary visual cortex	UBERON:0002436	93.62	gold quality
anterior cingulate cortex	UBERON:0009835	93.62	gold quality
occipital lobe	UBERON:0002021	93.58	gold quality
parietal lobe	UBERON:0001872	93.57	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.29	gold quality
telencephalon	UBERON:0001893	93.26	gold quality
Brodmann (1909) area 10	UBERON:0013541	93.06	gold quality
dorsal root ganglion	UBERON:0000044	93.03	gold quality
Ammon’s horn	UBERON:0001954	92.99	gold quality
temporal lobe	UBERON:0001871	92.88	gold quality
postcentral gyrus	UBERON:0002581	92.87	gold quality
amygdala	UBERON:0001876	92.74	gold quality
entorhinal cortex	UBERON:0002728	92.65	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.53	gold quality
orbitofrontal cortex	UBERON:0004167	92.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting C1orf216, 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-8485	100.00	77.57	4731
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6738-3P	99.03	67.14	1326

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	5730409E04Rik	ENSMUSG00000073755
rattus_norvegicus	C5h1orf216	ENSRNOG00000021609

Protein

Protein identifiers

UPF0500 protein C1orf216 — Q8TAB5 (reviewed: Q8TAB5)

All UniProt accessions (1): Q8TAB5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0500 family.

RefSeq proteins (2): NP_001335620, NP_689587* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027812	DUF4653	Family

Pfam: PF15546

UniProt features (6 total): compositionally biased region 3, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAB5-F1	68.19	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MORF_MSH3, MORF_BRCA1, MORF_ATRX, MORF_ESR1, MORF_RAD51L3, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, chr1p34, MORF_RAP1A, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, MORF_ATF2, MORF_BCL2L11, MORF_PPP2R5B, MORF_PRKACA

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf216	GLI4	P10075	479
C1orf216	ARMC9	Q7Z3E5	434
C1orf216	FAM167A	Q96KS9	380
C1orf216	KIDINS220	Q9ULH0	377
C1orf216	MNDA	P41218	311
C1orf216	CDS2	O95674	263
C1orf216	TRAPPC12	Q8WVT3	232
C1orf216	ZNF146	Q15072	227
C1orf216	ZNF592	Q92610	212
C1orf216	SGSM3	Q96HU1	197
C1orf216	ARL6IP1	Q15041	197
C1orf216	NLN	Q9BYT8	197
C1orf216	MCTS1	Q9ULC4	194
C1orf216	MAGEA12	P43365	174
C1orf216	LRP5	O75197	153
C1orf216	CENPN	Q96H22	153

IntAct

319 interactions, top by confidence:

A	B	Type	Score
USHBP1	C1orf216	psi-mi:“MI:0915”(physical association)	0.780
C1orf216	USHBP1	psi-mi:“MI:0915”(physical association)	0.780
KRT38	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
NUP62	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	CDR2	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	TRAF1	psi-mi:“MI:0915”(physical association)	0.720
RALBP1	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	KRT31	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	CCDC197	psi-mi:“MI:0915”(physical association)	0.720
MYRIP	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
ODAD1	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	NUP62	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	RALBP1	psi-mi:“MI:0915”(physical association)	0.720
CCDC197	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	MYRIP	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	ODAD1	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	KRT38	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (91): C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid), C1orf216 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: A4IH95, Q52KN3, Q8BP99, Q8TAB5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	14	26.2×	2e-14
Keratinization	14	16.6×	6e-12

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	12	68.8×	2e-17
intermediate filament organization	15	60.2×	6e-21
epithelial cell differentiation	11	32.2×	4e-12
cytoskeleton organization	7	15.5×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

193 predictions. Top by Δscore:

Variant	Effect	Δscore
1:35718705:A:AC	donor_gain	1.0000
1:35718706:C:CC	donor_gain	1.0000
1:35718706:CGG:C	donor_gain	1.0000
1:35716322:CTAGC:C	acceptor_gain	0.9900
1:35716323:TAGC:T	acceptor_gain	0.9900
1:35716323:TAGCC:T	acceptor_loss	0.9900
1:35716326:CCTG:C	acceptor_loss	0.9900
1:35716327:C:CC	acceptor_gain	0.9900
1:35718705:ACGG:A	donor_gain	0.9800
1:35718706:CG:C	donor_gain	0.9800
1:35718706:CGGC:C	donor_gain	0.9800
1:35716325:GC:G	acceptor_gain	0.9700
1:35716326:CC:C	acceptor_gain	0.9700
1:35718700:GACT:G	donor_loss	0.9700
1:35718701:ACTC:A	donor_loss	0.9700
1:35718703:TCACG:T	donor_loss	0.9700
1:35718704:CAC:C	donor_loss	0.9700
1:35718706:CGGCG:C	donor_gain	0.9600
1:35716324:AGC:A	acceptor_gain	0.9500
1:35718698:CGG:C	donor_gain	0.9400
1:35718701:A:AC	donor_gain	0.9400
1:35718702:C:CC	donor_gain	0.9400
1:35718699:GGAC:G	donor_loss	0.9300
1:35716329:G:GC	acceptor_gain	0.8900
1:35716324:AGCCT:A	acceptor_gain	0.8600
1:35716325:GCCTG:G	acceptor_gain	0.8600
1:35717609:T:TA	donor_gain	0.8600
1:35716326:CCTGT:C	acceptor_gain	0.8400
1:35716434:C:CA	donor_gain	0.8200
1:35716329:G:C	acceptor_gain	0.8000

AlphaMissense

1501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:35715716:G:C	F202L	0.991
1:35715716:G:T	F202L	0.991
1:35715718:A:G	F202L	0.991
1:35715692:C:A	K210N	0.990
1:35715692:C:G	K210N	0.990
1:35715839:T:A	K161N	0.990
1:35715839:T:G	K161N	0.990
1:35715696:C:G	R209P	0.988
1:35715795:C:G	R176P	0.988
1:35715729:A:G	L198P	0.987
1:35715792:C:G	R177P	0.986
1:35715799:A:C	Y175D	0.986
1:35715789:A:G	L178P	0.985
1:35715708:A:G	I205T	0.984
1:35715783:A:G	L180P	0.984
1:35715793:G:T	R177S	0.980
1:35715796:G:T	R176S	0.980
1:35715708:A:T	I205N	0.978
1:35715719:G:C	S201R	0.978
1:35715719:G:T	S201R	0.978
1:35715721:T:G	S201R	0.978
1:35715696:C:A	R209L	0.976
1:35715800:C:A	M174I	0.975
1:35715800:C:G	M174I	0.975
1:35715800:C:T	M174I	0.975
1:35715708:A:C	I205S	0.974
1:35715798:T:G	Y175S	0.973
1:35715799:A:G	Y175H	0.973
1:35715798:T:C	Y175C	0.972
1:35715780:A:G	L181P	0.971

dbSNP variants (sampled 300 via entrez): RS1001263191 (1:35714344 G>C), RS1001446925 (1:35720583 G>A,T), RS1001650458 (1:35717224 A>G), RS1001932739 (1:35717580 T>A,C), RS1002164498 (1:35720218 T>C), RS1003202737 (1:35718938 C>A), RS1004037638 (1:35715595 T>C), RS1004994042 (1:35720004 G>A), RS1005123822 (1:35718253 C>T), RS1005154841 (1:35713600 C>A), RS1005287760 (1:35720481 G>A,C,T), RS1005692428 (1:35715618 G>A,C,T), RS1005794200 (1:35715062 A>G), RS1005827914 (1:35716762 C>G,T), RS1006096538 (1:35716724 T>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	4
sodium arsenite	decreases expression, increases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
perfluorooctanoic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	decreases expression	1
Vitamin E	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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