C1orf115

Summary

C1orf115 (chromosome 1 open reading frame 115, HGNC:25873) is a protein-coding gene on chromosome 1q41, encoding Required for drug-induced death protein 1 (Q9H7X2). Regulates drug efflux through modulation of ABCB1 localization and activity.

Involved in regulation of response to drug. Located in 9+0 non-motile cilium.

Source: NCBI Gene 79762 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_024709

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25873
Approved symbol	C1orf115
Name	chromosome 1 open reading frame 115
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14146, RDD1
Ensembl gene	ENSG00000162817
Ensembl biotype	protein_coding
Entrez	79762

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000294889

RefSeq mRNA: 1 — MANE Select: NM_024709 NM_024709

CCDS: CCDS1524

Canonical transcript exons

ENST00000294889 — 2 exons

Exon	Start	End
ENSE00001068927	220696612	220699153
ENSE00001068928	220690363	220690711

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 98.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8580 / max 530.8018, expressed in 990 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8648	5.8141	912
8646	0.7042	229
8647	0.3398	183

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.85	gold quality
jejunal mucosa	UBERON:0000399	98.70	gold quality
ileal mucosa	UBERON:0000331	97.58	gold quality
ileum	UBERON:0002116	97.47	silver quality
placenta	UBERON:0001987	97.41	gold quality
orbitofrontal cortex	UBERON:0004167	96.98	gold quality
duodenum	UBERON:0002114	96.53	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.24	gold quality
postcentral gyrus	UBERON:0002581	96.16	gold quality
parietal lobe	UBERON:0001872	96.15	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.14	gold quality
superior frontal gyrus	UBERON:0002661	96.08	gold quality
right lobe of liver	UBERON:0001114	95.83	gold quality
liver	UBERON:0002107	95.64	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.39	gold quality
mucosa of transverse colon	UBERON:0004991	95.24	gold quality
frontal cortex	UBERON:0001870	95.19	gold quality
right frontal lobe	UBERON:0002810	95.12	gold quality
cingulate cortex	UBERON:0003027	94.86	gold quality
anterior cingulate cortex	UBERON:0009835	94.85	gold quality
prefrontal cortex	UBERON:0000451	94.59	gold quality
neocortex	UBERON:0001950	94.50	gold quality
entorhinal cortex	UBERON:0002728	94.34	gold quality
adult mammalian kidney	UBERON:0000082	93.90	gold quality
cerebral cortex	UBERON:0000956	93.81	gold quality
temporal lobe	UBERON:0001871	93.18	gold quality
renal medulla	UBERON:0000362	92.93	gold quality
mammary duct	UBERON:0001765	92.88	gold quality
occipital lobe	UBERON:0002021	92.84	gold quality
telencephalon	UBERON:0001893	92.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	6.36
E-ANND-3	yes	5.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

77 targeting C1orf115, 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-6833-3P	100.00	70.63	3197
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-1275	99.47	67.90	2749

Literature-anchored findings (GeneRIF, showing 1)

• Systematic functional identification of cancer multi-drug resistance genes. (PMID:32028983)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:194392	ENSDARG00000074809
danio_rerio	si:dkey-126g1.9	ENSDARG00000093702
mus_musculus	C130074G19Rik	ENSMUSG00000039349
rattus_norvegicus	C13h1orf115	ENSRNOG00000002322

Protein

Protein identifiers

Required for drug-induced death protein 1 — Q9H7X2 (reviewed: Q9H7X2)

All UniProt accessions (1): Q9H7X2

UniProt curated annotations — full annotation on UniProt →

Function. Regulates drug efflux through modulation of ABCB1 localization and activity.

Subcellular location. Membrane.

RefSeq proteins (1): NP_078985* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031667	RDD1	Family

Pfam: PF15828

UniProt features (4 total): region of interest 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7X2-F1	64.47	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): BENPORATH_ES_WITH_H3K27ME3, LUCAS_HNF4A_TARGETS_UP, WEI_MYCN_TARGETS_WITH_E_BOX, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, NAKAYAMA_SOFT_TISSUE_TUMORS_PCA2_DN, BOQUEST_STEM_CELL_DN, ZHAN_MULTIPLE_MYELOMA_CD1_DN, DOANE_BREAST_CANCER_CLASSES_UP, LIU_SOX4_TARGETS_UP, GOCC_CILIUM, PUIFFE_INVASION_INHIBITED_BY_ASCITES_DN, COULOUARN_TEMPORAL_TGFB1_SIGNATURE_DN, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, CHEN_LIVER_METABOLISM_QTL_CIS

GO Biological Process (1): regulation of response to drug (GO:2001023)

GO Molecular Function (0):

GO Cellular Component (2): membrane (GO:0016020), 9+0 non-motile cilium (GO:0097731)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to xenobiotic stimulus	1
regulation of response to stimulus	1
cellular anatomical structure	1
non-motile cilium	1

Protein interactions and networks

STRING

348 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf115	TMEM244	Q5VVB8	528
C1orf115	RASGEF1C	Q8N431	488
C1orf115	LYZL4	Q96KX0	481
C1orf115	KIF16B	Q96L93	388
C1orf115	NOL4	O94818	378
C1orf115	C5orf15	Q8NC54	370
C1orf115	CCNP	Q9H8S5	369
C1orf115	DUSP13B	Q9UII6	357
C1orf115	BBLN	Q9BUW7	355
C1orf115	SMIM32	A0A1B0GUA5	333
C1orf115	TMEM220	Q6QAJ8	322
C1orf115	TMEM41A	Q96HV5	322
C1orf115	TMEM52	Q8NDY8	321
C1orf115	TMEM71	Q6P5X7	307
C1orf115	MARK1	Q9P0L2	304

IntAct

2 interactions, top by confidence:

A	B	Type	Score
C1orf115	PRMT5	psi-mi:“MI:0914”(association)	0.350

BioGRID (24): C1orf115 (Biochemical Activity), C1orf115 (Positive Genetic), TUBA4A (Affinity Capture-MS), UBR5 (Affinity Capture-MS), FAT3 (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), WDR77 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), CLNS1A (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), IPO7 (Affinity Capture-MS), LRRC1 (Affinity Capture-MS), NCS1 (Affinity Capture-MS), MKS1 (Affinity Capture-MS), COPRS (Affinity Capture-MS)

ESM2 similar proteins: A0A286YDK6, A0A286YF18, A5PKK9, A8WFF7, F5HGI9, O08664, O10331, O12165, P03407, P05856, P06499, P12479, P17473, P27114, P28925, P46695, P52511, P52512, P89457, Q00336, Q14493, Q17QW1, Q32LJ5, Q5STR5, Q66619, Q6NZY7, Q6S6U0, Q6VUC0, Q75009, Q7YR42, Q82855, Q84240, Q86YL5, Q89448, Q8BGN9, Q8BRE0, Q8C1R3, Q8N4L4, Q8N5W9, Q8QVL8

Diamond homologs: Q3ZCQ0, Q8BGN9, Q9H7X2

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	4
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

248 predictions. Top by Δscore:

Variant	Effect	Δscore
1:220696598:A:AG	acceptor_gain	1.0000
1:220696604:A:AG	acceptor_gain	1.0000
1:220696605:A:G	acceptor_gain	1.0000
1:220696607:A:AG	acceptor_gain	1.0000
1:220696608:C:G	acceptor_gain	1.0000
1:220696611:GA:G	acceptor_gain	1.0000
1:220690690:G:GT	donor_gain	0.9900
1:220690699:G:GT	donor_gain	0.9900
1:220690699:GAA:G	donor_gain	0.9900
1:220690702:G:GG	donor_gain	0.9900
1:220690709:AAGG:A	donor_loss	0.9900
1:220690710:AG:A	donor_loss	0.9900
1:220690712:G:A	donor_loss	0.9900
1:220690713:T:A	donor_loss	0.9900
1:220696599:T:G	acceptor_gain	0.9900
1:220696606:C:G	acceptor_gain	0.9900
1:220696608:CTA:C	acceptor_loss	0.9900
1:220696609:TAGA:T	acceptor_loss	0.9900
1:220696610:A:AG	acceptor_gain	0.9900
1:220696610:A:T	acceptor_loss	0.9900
1:220696610:AGAAT:A	acceptor_gain	0.9900
1:220696611:G:GA	acceptor_gain	0.9900
1:220696611:GAA:G	acceptor_gain	0.9900
1:220696611:GAAT:G	acceptor_gain	0.9900
1:220696611:GAATG:G	acceptor_gain	0.9900
1:220690675:G:GT	donor_gain	0.9800
1:220690708:C:T	donor_gain	0.9800
1:220696609:TAGAA:T	acceptor_gain	0.9800
1:220696607:ACTAG:A	acceptor_gain	0.9600
1:220696606:CACTA:C	acceptor_gain	0.9500

AlphaMissense

894 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:220696636:G:A	G112R	0.993
1:220696636:G:C	G112R	0.993
1:220696637:G:A	G112E	0.988
1:220696639:T:C	C113R	0.988
1:220696657:G:C	G119R	0.987
1:220696673:C:A	A124D	0.985
1:220696658:G:A	G119D	0.983
1:220696616:T:A	V105D	0.980
1:220696691:C:T	P130L	0.976
1:220690699:G:C	K99N	0.975
1:220690699:G:T	K99N	0.975
1:220696628:T:A	I109N	0.975
1:220696614:T:A	N104K	0.972
1:220696614:T:G	N104K	0.972
1:220696691:C:A	P130Q	0.971
1:220696691:C:G	P130R	0.971
1:220696619:G:A	G106E	0.970
1:220696681:T:G	Y127D	0.969
1:220696661:T:C	L120P	0.966
1:220690707:G:A	G102D	0.964
1:220690711:G:C	K103N	0.962
1:220690711:G:T	K103N	0.962
1:220696670:T:C	F123S	0.961
1:220696652:T:A	V117D	0.960
1:220696708:A:C	S136R	0.958
1:220696710:C:A	S136R	0.958
1:220696710:C:G	S136R	0.958
1:220696661:T:A	L120Q	0.951
1:220696625:T:A	V108D	0.950
1:220696623:G:C	K107N	0.949

dbSNP variants (sampled 300 via entrez): RS1000404198 (1:220690879 C>A), RS1000608540 (1:220696961 C>A,G,T), RS1000812476 (1:220690070 C>T), RS1001093713 (1:220695120 T>G), RS1001451535 (1:220694844 T>C), RS1001768438 (1:220697821 A>T), RS1001816083 (1:220690909 T>A), RS1001870893 (1:220697591 A>G), RS1001941727 (1:220691249 A>G), RS1002046191 (1:220696127 G>A), RS1002163575 (1:220697025 C>A,T), RS1002395625 (1:220690977 C>G,T), RS1002548480 (1:220693273 A>G), RS1002728838 (1:220699380 C>G,T), RS1003093464 (1:220698962 T>G)

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

2 associations (top):

Study	Trait	p-value
GCST90011898_33	Alanine aminotransferase levels	1.000000e-31
GCST90011899_103	Aspartate aminotransferase levels	3.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
bisphenol A	affects expression, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
triphenyl phosphate	affects expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases expression	1
bisphenol AF	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases expression	1
Cisplatin	decreases expression	1
Cosmetics	affects cotreatment, increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Flame Retardants	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Lead	affects expression	1
Plasticizers	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Testosterone	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SG19	HAP1 C1orf115 (-) 1	Cancer cell line	Male
CVCL_SG20	HAP1 C1orf115 (-) 2	Cancer cell line	Male
CVCL_SG21	HAP1 C1orf115 (-) 3	Cancer cell line	Male
CVCL_SG22	HAP1 C1orf115 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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