C1orf74

Summary

C1orf74 (chromosome 1 open reading frame 74, HGNC:26319) is a protein-coding gene on chromosome 1q32.2, encoding UPF0739 protein C1orf74 (Q96LT6).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 32 total — 3 pathogenic
• MANE Select transcript: NM_152485

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26319
Approved symbol	C1orf74
Name	chromosome 1 open reading frame 74
Location	1q32.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25078, URLC4
Ensembl gene	ENSG00000162757
Ensembl biotype	protein_coding
Entrez	148304

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000294811, ENST00000885064, ENST00000956279

RefSeq mRNA: 1 — MANE Select: NM_152485 NM_152485

CCDS: CCDS1491

Canonical transcript exons

ENST00000294811 — 2 exons

Exon	Start	End
ENSE00001068299	209784378	209784559
ENSE00001068300	209779208	209783709

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 80.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6869 / max 23.1037, expressed in 1429 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17307	2.6869	1429

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	80.39	gold quality
granulocyte	CL:0000094	79.82	gold quality
endothelial cell	CL:0000115	77.10	silver quality
gingival epithelium	UBERON:0001949	76.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.70	gold quality
gingiva	UBERON:0001828	76.48	gold quality
pancreatic ductal cell	CL:0002079	76.17	silver quality
secondary oocyte	CL:0000655	74.73	silver quality
upper arm skin	UBERON:0004263	73.59	gold quality
skin of abdomen	UBERON:0001416	73.11	gold quality
upper leg skin	UBERON:0004262	72.85	gold quality
kidney epithelium	UBERON:0004819	72.04	gold quality
islet of Langerhans	UBERON:0000006	72.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.79	gold quality
ileal mucosa	UBERON:0000331	71.68	gold quality
lymph node	UBERON:0000029	71.65	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.63	gold quality
esophagus mucosa	UBERON:0002469	71.16	gold quality
myocardium	UBERON:0002349	70.95	gold quality
skin of leg	UBERON:0001511	70.16	gold quality
zone of skin	UBERON:0000014	70.07	gold quality
spleen	UBERON:0002106	69.93	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	68.98	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	68.91	gold quality
stromal cell of endometrium	CL:0002255	68.77	gold quality
vermiform appendix	UBERON:0001154	68.76	gold quality
rectum	UBERON:0001052	68.22	gold quality
deltoid	UBERON:0001476	68.05	silver quality
cardiac muscle of right atrium	UBERON:0003379	67.99	gold quality
left ventricle myocardium	UBERON:0006566	67.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-11	no	196.44
E-ANND-3	no	3.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

164 targeting C1orf74, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059

Literature-anchored findings (GeneRIF, showing 2)

• C1orf74 positively regulates the EGFR/AKT/mTORC1 signaling in lung adenocarcinoma cells. (PMID:36032960)
• Increased Gene Expression of C1orf74 Is Associated with Poor Prognosis in Cervical Cancer. (PMID:37947608)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:112163	ENSDARG00000017657
mus_musculus	A130010J15Rik	ENSMUSG00000079144
rattus_norvegicus	C13h1orf74	ENSRNOG00000005558

Protein

Protein identifiers

UPF0739 protein C1orf74 — Q96LT6 (reviewed: Q96LT6)

All UniProt accessions (2): A0A0A8K8E6, Q96LT6

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0739 family.

RefSeq proteins (1): NP_689698* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027850	DUF4504	Family

Pfam: PF14953

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LT6-F1	90.75	0.77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 77 (showing top): CGGAARNGGCNG_UNKNOWN, CREB_Q3, ZHANG_BREAST_CANCER_PROGENITORS_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, LIN_SILENCED_BY_TUMOR_MICROENVIRONMENT, ZHANG_RESPONSE_TO_IKK_INHIBITOR_AND_TNF_UP, BANP_TARGET_GENES, CBX7_TARGET_GENES, CREB3L4_TARGET_GENES, DIDO1_TARGET_GENES, DYRK1A_TARGET_GENES, FEV_TARGET_GENES, HOXB6_TARGET_GENES

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

206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf74	CWF19L1	Q69YN2	561
C1orf74	TRAF3IP3	Q9Y228	544
C1orf74	USP54	Q70EL1	517
C1orf74	UTP25	Q68CQ4	507
C1orf74	NREP	Q16612	495
C1orf74	BBOF1	Q8ND07	479
C1orf74	RFC5	P40937	459
C1orf74	RHEX	Q6ZWK4	446
C1orf74	NUP155	O75694	440
C1orf74	USP33	Q8TEY7	419
C1orf74	DHX36	Q9H2U1	405
C1orf74	PLCE1	Q9P212	402
C1orf74	DDX1	Q92499	397
C1orf74	CCT2	P78371	383
C1orf74	UBN2	Q6ZU65	378

IntAct

20 interactions, top by confidence:

A	B	Type	Score
TEKT1	C1orf74	psi-mi:“MI:0915”(physical association)	0.560
C1orf74	WWTR1	psi-mi:“MI:0915”(physical association)	0.560
IGFBP6	C1orf74	psi-mi:“MI:0915”(physical association)	0.560
C1orf74	C22orf23	psi-mi:“MI:0915”(physical association)	0.560
MBD3L1	C1orf74	psi-mi:“MI:0915”(physical association)	0.560
REL	C1orf74	psi-mi:“MI:0915”(physical association)	0.560
C1orf74	HCK	psi-mi:“MI:0914”(association)	0.350
C1orf74	TEKT1	psi-mi:“MI:0915”(physical association)	0.000
C1orf74	REL	psi-mi:“MI:0915”(physical association)	0.000
C1orf74	WWTR1	psi-mi:“MI:0915”(physical association)	0.000
C1orf74	IGFBP6	psi-mi:“MI:0915”(physical association)	0.000
C1orf74	C22orf23	psi-mi:“MI:0915”(physical association)	0.000
C1orf74	MBD3L1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): C1orf74 (Two-hybrid), C1orf74 (Two-hybrid), REL (Two-hybrid), IGFBP6 (Two-hybrid), TEKT1 (Two-hybrid), MBD3L1 (Two-hybrid), DAAM1 (Affinity Capture-MS), KIAA1919 (Affinity Capture-MS), SCCPDH (Affinity Capture-MS), FAS (Affinity Capture-MS), ABCB6 (Affinity Capture-MS), HCK (Affinity Capture-MS), C1orf74 (Affinity Capture-RNA)

ESM2 similar proteins: A6QQA5, A7YWU3, B5XBP5, F5HA27, F5HF47, F5HG20, O36381, O36391, O36416, O36417, P03185, P03220, P0C6Z9, P0C866, P0CK56, P0CK57, P10191, P20402, P29882, P78543, Q03552, Q04566, Q07G87, Q1RMA6, Q20A00, Q2HR98, Q3KSP4, Q3KSR8, Q3TDK6, Q4V7D2, Q567C3, Q5BK64, Q5PQ92, Q5R7X1, Q5REJ0, Q5U2R2, Q66669, Q6DFN5, Q758A1, Q7ZVT5

Diamond homologs: A6QQA5, B5XBP5, Q07G87, Q567C3, Q5PQ92, Q5REJ0, Q5U2R2, Q96LT6, Q9DAE8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	18
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	Pathogenic
3420	nsv1067914	Pathogenic
395067	GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1	Pathogenic

SpliceAI

845 predictions. Top by Δscore:

Variant	Effect	Δscore
1:209781457:GA:G	donor_gain	1.0000
1:209781459:G:GG	donor_gain	1.0000
1:209784377:CGTT:C	donor_gain	1.0000
1:209779487:T:G	donor_gain	0.9900
1:209780604:G:GT	donor_gain	0.9900
1:209781339:CCCCA:C	acceptor_loss	0.9900
1:209781340:CCCA:C	acceptor_loss	0.9900
1:209781341:CCA:C	acceptor_loss	0.9900
1:209781343:A:AG	acceptor_gain	0.9900
1:209781344:G:C	acceptor_loss	0.9900
1:209781344:G:GA	acceptor_gain	0.9900
1:209781344:GT:G	acceptor_gain	0.9900
1:209781344:GTGCA:G	acceptor_gain	0.9900
1:209781455:CAGAG:C	donor_loss	0.9900
1:209781458:AG:A	donor_loss	0.9900
1:209781459:GT:G	donor_loss	0.9900
1:209781460:T:G	donor_loss	0.9900
1:209782051:TACA:T	acceptor_loss	0.9900
1:209782051:TACAG:T	acceptor_gain	0.9900
1:209782052:ACAG:A	acceptor_loss	0.9900
1:209782052:ACAGA:A	acceptor_gain	0.9900
1:209782053:CA:C	acceptor_loss	0.9900
1:209782053:CAG:C	acceptor_gain	0.9900
1:209782054:A:AC	acceptor_loss	0.9900
1:209782054:A:AG	acceptor_gain	0.9900
1:209782054:AGA:A	acceptor_gain	0.9900
1:209782054:AGAG:A	acceptor_gain	0.9900
1:209782055:G:A	acceptor_loss	0.9900
1:209782055:G:GG	acceptor_gain	0.9900
1:209782055:GAG:G	acceptor_gain	0.9900

AlphaMissense

1721 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:209782969:A:C	S222R	0.987
1:209782969:A:T	S222R	0.987
1:209782971:T:G	S222R	0.987
1:209782972:A:C	F221L	0.980
1:209782972:A:T	F221L	0.980
1:209782974:A:G	F221L	0.980
1:209783482:C:A	K51N	0.972
1:209783482:C:G	K51N	0.972
1:209782829:A:T	L269H	0.965
1:209782967:A:T	V223D	0.961
1:209782973:A:G	F221S	0.943
1:209783501:G:T	A45D	0.942
1:209782970:C:T	S222N	0.940
1:209783477:G:T	A53D	0.940
1:209783026:G:C	F203L	0.939
1:209783026:G:T	F203L	0.939
1:209783028:A:G	F203L	0.939
1:209782921:C:A	W238C	0.938
1:209782921:C:G	W238C	0.938
1:209783114:C:T	G174E	0.938
1:209783051:A:G	L195S	0.937
1:209782923:A:G	W238R	0.936
1:209782923:A:T	W238R	0.936
1:209783478:C:G	A53P	0.935
1:209783033:C:G	R201P	0.934
1:209783116:A:C	F173L	0.930
1:209783116:A:T	F173L	0.930
1:209783118:A:G	F173L	0.930
1:209783114:C:A	G174V	0.929
1:209783484:T:C	K51E	0.928

dbSNP variants (sampled 300 via entrez): RS1000890560 (1:209784517 G>A,T), RS1001192790 (1:209778792 T>C), RS1001423064 (1:209785379 GC>G), RS1001866391 (1:209779629 A>C), RS1002315298 (1:209780180 G>T), RS1002869867 (1:209779918 A>G), RS1003129595 (1:209786555 C>T), RS1003586591 (1:209781612 T>C), RS1003942364 (1:209781227 G>C), RS1004698510 (1:209781761 C>G), RS1005175085 (1:209784791 C>A,T), RS1005343280 (1:209783828 T>C), RS1005372279 (1:209784963 T>C), RS1006043098 (1:209779620 G>A), RS1006430782 (1:209784148 A>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:119300

GenCC curated gene-disease

Mondo (1): van der Woude syndrome 1 (MONDO:0007333)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004866_6	Alopecia areata	2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Lead	affects methylation	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Mustard Gas	increases expression	1
Potassium Chloride	decreases response to substance, decreases expression	1
Dronabinol	decreases expression, decreases response to substance	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	decreases methylation	1
Vincristine	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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